NCM 107 RLE Semi Finals Reviewer

LICEO DE CAGAYN UNIVERSITY
Maternal and Child Health Nursing

College of nursing batch 2025
Lesson #3: Multiple Gestation and Postpartum Hemorrhage
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LESSON OUTLINE How Does it Occur?

• Identical Twins
Multiple Gestation o Monozygotic
1 Multiple Pregnancy Definition o Begin with a single ovum and
2 Multiple Birth Terminology spermatozoon
How Does it Occur? o In the process of fusion, or in one of
Causes of Multiple Pregnancy the first cell divisions, the zygote
Common Signs of Multiple Pregnancy divides into two identical individuals.
Classification of Multiple Pregnancy o Single-ovum twins usually have;
Diagnosis § One placenta
Complications § One chorion
Method of Delivery § Two amnions
§ Two umbilical cords
o The twins are usually of the same
Multiple Gestation
sex
Multiple Pregnancy Definition
o They account for one third of twin
• Any pregnancy which two or more
births
embryos or fetuses present in the uterus
• Fraternal
at same time
o The other two thirds of twins
• It is considered as a complication of
o Dizygotic, nonidentical
pregnancy due to
o The result of the fertilization of two
o A woman’s body must adjust to the
separate ova by two separate
effects of more than one fetus
spermatozoa
o The mean gestational age of
§ Possibly not from the same
delivery of twins is approximately 36
sexual partner
w.g. and in triplets is approximately
o Double-ova twins have
31 w.g.
§ Two placentas
o The perinatal mortality and
§ Two chorions
morbidity increase
§ Two amnions
§ Two umbilical cords
Multiple Birth Terminology
o The twins may be of the same or a
• Singletons → one fetus
different sex
• Twins → two fetuses
• The incidence of multiple births has
• Triplets → three fetuses increased dramatically because of the
• Quadruplets → four fetuses use of in vitro fertilization, but still only
• Quintuplets → five fetuses occurs in 2% to 3% of all births
• Sextuplets → six fetuses • Multiple pregnancies of two to eight
• Septuplets → seven fetuses children may be single-ovum
• Octuplets → eight fetuses conceptions, multiple-ova conceptions,
or a combination of the two types.
• Nonuplets → nine fetuses
• Naturally occurring multiple
• Decuplets → ten fetuses
pregnancies are more frequent in
Blacks and Hispanics than Whites
Kathleen Velasco – BSN 2F 11

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• The higher a woman’s parity and age, § These technologies often use
the more likely she is to have a multiple ovulation-stimulating
gestation. Inheritance appears to play medicines to produce multiple
a role in natural dizygotic twinning eggs
o This has a familial maternal pattern § These are then fertilized in the
of occurrence lab and returned to the uterus
to grow
Causes of Multiple Pregnancy
• Many factors are linked to having a Common Signs of Multiple Pregnancy
multiple pregnancy • More frequent or earlier fetal
• Main naturally occurring factors are movement
o Heredity • Measuring large for gestational age
§ A family history of multiple • Elevated HcG levels
pregnancy raises the chances o In urine or blood
of having twins • Abnormal AFP test results
o Older age • More than 1 heartbeat is detected by
§ Women older than 30 have a Doppler System
greater chance of multiple • Severe fatigue
conception • Increased morning sickness
§ Many women today are • Excessive weight gain
waiting to have children until o Early pregnancy
later in life • Increased appetite
§ They may have twins as a result • Frequent urination
o High parity • Breast tenderness
§ Having 1 or more previous
pregnancies, especially a Classification of Multiple Pregnancy
multiple pregnancy, raises the Twin Pregnancy
chances of having multiples • The most common type of variety of
o Race multiple pregnancy
• Other factors that have greatly raised • Zygosity
the multiple birth rate in recent years o The genetic makeup or
are reproductive technologies such as characteristics of a particular
o Ovulation-stimulating medicines, zygote
§ Such as clomiphene citrate • Chorionicity
and follicle stimulating o The number of chorions in the
hormone (FSH) placenta that supply blood and
§ These help produce many nourishment to the developing
eggs fetuses
§ If fertilized, they can result in o Type of placentation
multiple babies • Amnionicity
o Assisted reproductive technologies o The number of amnions (inner
§ In vitro fertilization (IVF) and membranes) that surround fetuses
other methods may help in a multiple pregnancy
couples get pregnant

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• Amniotic Sac Genesis of Monozygotic Twins

• If the division takes place within 72 hours
after fertilization, resulting embryos will
have two separate placentas, chorion,
and amnion
o Dichorionic-diamniotic
Two Types
• Dizygotic Twins
o Most common
§ Represents 80% of the cases
o Fertilization of two ova and two
sperms, leading to fraternal twins
• Monozygotic Twins
o Constitutes to 20% of the cases
o Fertilization of an ovum that divides
(splits) into two, leading to identical
twins
• If the division takes place between 4th
and 8th day after the formation of inner
Genesis of Dizygotic Twins
cell mass when chorion has already
• There are two placentae either
developed, the resulting embryos will
completely separated or more
have one chorion and two amnion
commonly fused at the margin
o Monochorionic-diamniotic
• Each fetus is surrounded by a separate
chorion and amnion
o Dichorionic-diamniotic
• Non-identical and sex of fetus may
differ
• Genetic features such as blood group
and fingerprints also differ

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• If the division occurs after 8th day of Diagnosis

fertilization when amniotic cavity has • History
already formed, the resulting embryos o Family of dizygotic twins (maternal
will have one chorion and one amnion side)
o Monochorionic-monoamniotic o Use of fertility drugs
o Sensation of excessive fetal
movements
o Exaggerated symptoms of
pregnancy
§ Hyperemesis gravidarum
• Examination
o General examination
§ Increased prevalence of
anemia
§ Unusual weight gain not
explained by pre-eclampsia or
obesity
§ Evidence of pre-eclampsia is a
• If the division occurs after 2 weeks, this common association
results to the formation of conjoined or o Abdominal Examination
“Siamese” twins § Height of the uterus is more
than gestation age
§ Palpation of too many fetal
parts
§ Finding two fetal heads
§ Two distinct fetal heart sounds
at separate spots with a silent
area in between
o Investigation
§ Sonography
§ Biochemical test

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Complications o Poor growth

Maternal Complications § Poor placentation, unequal
• Antepartum placental sharing, fetal
o Hyperemesis anomalies
§ Increased β-hCG • Single fetal demise
o Hydramnios o Death of one twin
§ Monoamniotic pregnancies, o Sudden acute shift of blood from
twin transfusion syndrome, surviving twin to dead fetus
major cause of prematurity o Monochrionic
o Pre-eclampsia § 25% risk of twin death, 25% risk
§ 3 times commoner compared of neurological damage in
to singleton surviving twin
o Pressure symptoms § Dilemma exists whether to
o Anemia deliver early or not
§ Increased plasma volume § Terminated as soon as other
expansion, fetoplacental twin is capable of extra uterine
demand for iron increased survival
o APH o Dichorionic
§ Placenta previa, Abruptio § No such risk
placenta § Conservative management
• Intrapartum • Twin to twin transfusion syndrome
o Dysfunctional labour or prolonged o The presence of unbalanced
labour anastomosis in the placenta
o Malpresentation (typically arterial-venous
o Operative delivery connections) leads to a syndrome
o Postpartum hemorrhage in which one twin's circulation
o Retained Placenta perfuses the other twin
o Premature separation of placenta o Complications
§ Donor
Fetal Complications Ø Anemic HF, hypovolemia,
Antepartum hypotension, anemia,
• Prematurity oligohydramnios, growth
o Single most important cause of restriction
perinatal morbidity and mortality § Recipient
o ensure delivery in a tertiary care Ø Hypervolemic HF,
center hypervolemia,
• IUGR hypertension,
o Intrauterine growth restriction polyhydramnios,
o Can affect one or both fetuses thrombosis, hyperviscosity,
o Monochorionic > Dichorionic cardiomegaly,
o Up to 30-32 weeks twins grow with polycythemia, hydrops
the same velocity after that fetalis
reduction in abdominal
circumference

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• Vanishing twin/abortion Intrapartum

o Incidence of abortion more in • PROM
multiple pregnancy o Premature rupture of membranes
o Spontaneous cessation of cardiac • Cord Prolapse
activity in a previously viable fetus • Abruption in the second twin
of a multiple gestation • Interlocking (rare)
o When fetal death occur after the
first trimester, results in a thin Method of Delivery
parchment like body called FETUS Types of Delivery Methods
PAPYRACEOUS • Vaginal delivery
o Diagnosis made after delivery o In a vaginal birth, your baby is born
o No effect on mother or the viable through your vagina or birth canal
fetus o It's the most preferred and most
• Congenital Anomalies common way to deliver a baby
o Structural malformations because it carries the lowest risk (in
§ Unique to twins most cases)
Ø Conjoined twins, acardiac o A vaginal delivery occurs most
fetus often between weeks 37 and 42 of
§ Non specific but common in pregnancy
twins o A vaginal delivery has three stages
Ø CHD, Anencephaly § Labor
§ Postural deformities § Birth
Ø Talipes & congenital § Delivering the placenta
dislocation of hip • Assisted vaginal delivery
o Chromosomal anomalies o Vacuum or forceps
§ Dizygotic
Ø Independent risk, but both
will not be involved
§ Monozygotic
Ø Same risk as that of
singleton, both affected
§ Down's syndrome
§ Conjoined twins
o An assisted vaginal delivery is when

your obstetrician uses forceps or a
vacuum device to get your baby
out of your vagina
• Conjoined Twin

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o Assisted deliveries often happen Types of Fetus Positions

when • Vertex – Vertex
§ You've been in labor a long o This fetal presentation is the most
time promising for a vaginal delivery
§ Your labor isn't progressing because both twins are head-
§ You become too fatigued to down
continue pushing o In vertex-vertex pairs, the rate of
§ You or your baby are showing Cesarean delivery for the second
signs of distress twin after a vaginal delivery of the
o Assisted deliveries only occur when first one is 16.9 percent
certain conditions are met o Research shows that second twins
• C-section change positions in 20 percent of
o Cesarean birth planned vaginal deliveries
o During a C-section birth, your
obstetrician delivers your baby
through surgical incisions made in
your abdomen and uterus
o A C-section delivery might be
planned in advance if a medical
reason calls for it, or it might be
unplanned and take place during
your labor if certain problems arise • Vertex - Breech
o Sometimes, your labor and delivery o When the first twin's (the lower one)
changes, and a cesarean birth head is down, but the second twin
becomes necessary for the health isn't, your doctor may attempt a
and safety of you or your baby vaginal delivery by changing the
• VBAC baby's position or doing breech
o Vaginal birth after cesarean extraction, which isn't possible if the
o If you've already had a cesarean second twin weighs much more
birth, you may be able to have your than the first twin
next baby vaginally o The rates of emergency C-section
o This is a VBAC, or vaginal birth after deliveries for the second twin after
cesarean a vaginal delivery of the first twin
o Because a surgical cut results in a are higher in second twins who
scar on your uterus, the concern is have a very low birth weight
that the pressure of labor in a § Small babies may not tolerate
vaginal delivery could cause your labor as well
uterus to open (rupture) along the
previous C-section scar
o For this reason, certain criteria must
be met in order for your obstetrician
to attempt a vaginal birth after C-
section

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• Breech - Breech • Breech- Transverse

o When both twins are breech, a o The risk with delivery of the
planned C-section is presenting twin as a breech is head
recommended because your entrapment or extension of the
doctor isn't able to turn the fetuses neck, making delivery more difficult
§ Studies also show that there are and potentially leading to a fetal
fewer negative neonatal cervical spine injury
outcomes for planned C- o Historically, the teaching was a
sections than planned vaginal concern for "interlocking chins”
births in breech babies o This is actually a very rare event
o As with any C-section, the risks for a
planned one with twins include
infection, loss of blood, blood clots,
injury to the bowel or bladder, a
weak uterine wall, placenta
abnormalities in future pregnancies
and fetal injury
What Causes a Baby to be Breech?

• You are expecting multiples (twins or
more)
o This makes it harder for each baby
• Vertex-Transverse
to get into the right position
o If one twin is lying sideways or
• There is too much or too little amniotic
diagonally (oblique), there's a
fluid
chance the baby may shift position
• The uterus is not normal in shape or has
as your labor progresses, or your
abnormal growths such as fibroids
doctor may try to turn the baby
o Most of the time, the uterus is
head-down via external cephalic
shaped like an upside-down pear
version or internal podalic version
o If it's shaped differently, there might
(changing position in the uterus),
not be enough room for a full-
which means you may be able to
grown baby to move into position
deliver both vaginally
• The placenta covers all or part of the
cervix
o A condition called placenta previa
• The baby is preterm
o This means they are less than 37
weeks gestation and may not have
turned to a head-first position

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• Your baby has a birth defect that

causes them to not turn head-down
Transverse Position
• Your baby is more likely to end up in the
transverse lie position in late pregnancy,
if
o You have too much amniotic fluid
in your womb
§ Polyhydramnios
o You've had multiple pregnancies
o You have any abnormalities of the
womb
o You have a low-lying placenta
§ Placenta previa
o You have fibroids or ovarian cysts

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LESSON OUTLINE o The uterine wall consists of three

layers
Postpartum Hemorrhage § The perimetrium (outer)
1 Definition § Myometrium (middle)
Causes of Postpartum Hemorrhage § Endometrium (inner)
2 Types of Postpartum Hemorrhage • What causes Uterine Atony
3 Etiology of Postpartum Bleeding o Uterine atony is caused by the
4 Signs and Symptoms inability of the myometrium to
5 Prevention and Treatment contract sufficiently in response to
6 Management oxytocin, a hormone the body
releases before and during
Postpartum Hemorrhage childbirth to stimulate uterine
Definition contractions
• A condition in which excessive bleeding • Signs and Symptoms
from the genital tract at any time o The main sign of uterine atony is
following the baby's birth up to 6 weeks postpartum hemorrhage, or
after delivery excessive blood loss after delivery
• Hemorrhage may occur before, during, o This can cause a drop in the arterial
or after delivery of the placenta blood pressure and consequently
• Postpartum hemorrhage is a blood loss increase the heart rate
of o Individuals may also experience
o 500 ml in vaginal birth pain, especially in the lower back
o 1000 ml in cesarean delivery • How is uterine atony diagnosed
o Uterine atony is usually diagnosed
Causes of Postpartum Hemorrhage during physical examination
• 4Ts immediately upon delivery
o Tone • Background
o Trauma o Failure of the uterus to contract
o Tissue sufficiently during & after delivery of
o Thrombin a baby
o Myometrium doesn't respond to
Tone (Uterine Atony) oxytocin
• Uterine atony refers to the failure of the o Most common cause of
uterus to contract sufficiently during postpartum hemorrhage (obstetric
and after childbirth emergency)
o It can occur during both vaginal • Treatment
and cesarean delivery o Initial treatment
• Review § Uterine massage
o The uterus is anatomically divided § Medications
into 3 regions o Tamponade techniques
§ Fundus (uppermost part) § Gauze packing
§ Body (main part) § Bakri balloon
§ Cervix (lower part) § Foley catheter

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o Surgical management o Object embedded in a body

§ Uterine curettage opening
§ Uterine artery ligation o Groin pain or genital pain
§ Hysterectomy § Can be extreme
Trauma (Vascular and Soft Tissue Injury)

• Trauma to the uterus, cervix, and/or
vagina is the second most frequent
cause of postpartum hemorrhage
• Injury to these tissues during or after
delivery can cause significant bleeding
because of their increased vascularity
during pregnancy
• Causes
o Operative vaginal delivery
Tissue (Genital Tract Trauma) o Perineal, vaginal and cervical tears
• Refers to placental fragments retained o Lower segment tears
in the uterine cavity o Uterine rupture
• The damage to the genital structures o Caesarean section
o Uterus o Mediolateral episiotomy
o Cervix o Trauma resulting from the birth
o Vagina process can result in significant
o Perineum blood loss
• Causes o Delivery of a large infant
o A genital trauma occurs when a
female hits the vulva or perineum Thrombin (Coagulopathy)
(external female genitalia) on an • Clotting disorder
object and the force generated by • During the third stage of labor,
the weight of her body causes an hemostasis is most dependent on
injury contraction and retraction of the
§ This can occur during a fall or myometrium
accident • During this period, coagulation
§ The vulva includes the labia disorders are not often a contributing
minora, labia majora and factor
clitoris • However, hours to days after delivery,
• Signs and Symptoms the deposition of fibrin plays a more
o Abdominal pain prominent role
o Bleeding • In this delayed period, coagulation
o Bruising abnormalities can cause postpartum
o Change in shape of the affected hemorrhage alone or contribute to
area bleeding from other causes, most
o Faintness notably trauma
o Foul-smelling vaginal or urethral
discharge

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• Causes Prevention and Treatment

o Platelet dysfunction • Prevention
o Inherited coagulopathy o Administration of uterotonics such
o Use of anticoagulants as oxytocin 10 lU/IM or misoprostol
o Disseminated intravascular 600 ug orally if oxytocin is neither
coagulation available nor feasible
o Dilutional coagulopathy o Controlled cord traction
o Uterine massage after the delivery
Types of Postpartum Depression of placenta, as appropriate
• Primary (Immediate) Postpartum • Treatment
Hemorrhage o Administer oxytocin
o Excessive bleeding that occurs o Perform uterine massage
within the first 24 hours after delivery o Use of bimanual uterine
o About 70% of immediate PPH cases compression
are due to uterine atony o Non-pneumatic anti-shock
• Secondary (Late) Postpartum garment
Hemorrhage o Use of uterine balloon tamponade
o Excessive bleeding occurring o Surgical interventions such as
between 24 hours after delivery of uterine artery embolization and
the baby and 6 weeks postpartum hysterectomy
o Most late PPH is due to retained
products of conception, or Bimanual Uterine Compression
infection, or both combined • Done by placing one hand on the
o This condition of postpartum abdomen and the other hand inside
hemorrhage causes hemorrhagic the vagina then compress the uterus
shock between the two hands
Signs and Symptoms

• Excessive bleeding
• Hypotension
• Nausea and vomiting
• Decreased red blood cell (RBC) count
• Pale or clammy skin
• Drowsiness
• Tachycardia
• Swelling and pain vagina and perineum

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Non-Pneumatic Anti-Shock Garment Management of PPH

• A first aid device that looks like the • Manual Removal of The Placenta
bottom of a wetsuit, but cut into six • Hysterectomy
segments for easier application to the • Uterine Tamponade
different parts of the lower body • Vaginal tamponade
• Uterine Artery Embolization
Manual Removal of the Placenta

• Manual placenta removal is a
procedure to remove a retained
placenta from the uterus after childbirth
• The placenta is said to retained when it
is expelled from the uterus when even
30 minutes after the delivery of the baby
Procedure
• Step 1
o Manual Removal of Placenta under
General Anesthesia
• Segment 1
o If not available under deep
o 2 pieces to be used in each ankle
sedation
• Segment 2
o Patient placed in lithotomy position
o 2 pieces to be used in each calf
o Bladder is catheterized
• Segment 3
• Step 2
o 2 pieces to be used in each thigh
o Cone shaped manner on hand
• Segment 4
introduced in to the uterus
o 1 piece to be used around the
o While introducing labia are
pelvis
separated by fingers other hand
• Segment 5 and 6
o Uterine hand locate the margin of
o 1 piece to be used around the
placenta
abdomen

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• Step 3 • Step 5
o Counter pressure on the uterine o When the placenta is completely
fundus applied by the other hand separated, it is extracted by
placed over the abdomen traction of other hand
o The abdominal hand should steady o The uterine hand still in the uterus for
the fundus to guide the movement the exploration of the cavity
of fingers inside the uterine cavity till
the placenta is completely
separated
Complications
• Shock
• Postpartum hemorrhage
• Puerperal Sepsis
• Subinvolution
• Step 4 • Inversion
o Counter pressure on the uterine • Embolism
fundus applied by the other hand • Thrombophlebitis
placed over the abdomen
o The abdominal hand should steady Hysterectomy
the fundus to guide the movement • A surgical operation to remove all or
of fingers inside the uterine cavity till part of the uterus in case of life
the placenta is completely threatening condition of the women
separated o Ex. Menorrhagia post-menopausal
period
Types of Hysterectomy
• Partial hysterectomy
• Total hysterectomy
• Radical hysterectomy

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Subtotal Hysterectomy How do you do a Uterine Tamponade

• A subtotal hysterectomy is an operation • The procedure involves filling the uterine
to remove part of your uterus (womb), cavity and the cervical canal with
leaving your cervix (neck of your womb) enough pressure to cause immediate
in place tamponade between the Foley
• Your ovaries may need to be removed catheter balloon and the semirigid
at the same time uterine wall
Equipments Used in Uterine Tamponade

Uterine Tamponade • Barki Balloon
• The Uterine Balloon Tamponade (UBT) is o Is the first uterine tamponade
one such device balloon system designed
• Used as part of a series of treatment specifically for the treatment of
options, it is inserted inside the uterus by obstetric hemorrhage
a trained health care provider and • Sengstaken Blakemore esophageal
inflated to compress blood vessels to catheter
stop the hemorrhaging and stabilize the o Is a tube used in emergency
woman medicine to stop bleeding in your
stomach or esophagus
• Urological Rusch balloon
o Is a urinary balloon catheter that
was originally used to treat urinary
ailments
How to Insert and Usage

• When packing the uterus, placement
should begin at the fundus and progress
downward in a side-to-side fashion to
avoid dead space for blood
accumulation
• This procedure consists of insertion of a
silicone or rubber-shaped balloon in the
uterine cavity with subsequent filling of
the balloon with a certain volume of
normal saline

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• In vaginal delivery, the balloon is Uterine Artery Embolization

inserted after complete examination of • Uterine artery embolization (UAE) is a
the uterine cavity, cervix, and vagina to procedure to treat fibroids without
exclude the presence of retained surgery
products of conception or lacerations • Uterine fibroids are noncancerous
o The balloon should be inserted (benign) tumors that develop in the
above the cervical internal os and uterus (womb)
is then filled with 300 to 400 mL of • During the procedure, the blood supply
warm saline to the fibroids is cut off
• The balloon is held in place with vaginal • This typically causes the fibroids to shrink
packing in case of complete cervical
dilation to prevent it from prolapsing
into the vagina
o It is important to observe for
cessation of bleeding after insertion
(the tamponade test)
• Broad-spectrum antibiotics and
continuous IV oxytocin should be
administered as long as the balloon is in
place
o The balloon is then gradually
deflated over a 24-hour period How Does it Work
o Balloon tamponade is successful in • Arterial embolization is a procedure in
approximately 80% of cases which small pieces of a special gelatin
sponge, or other material, are injected
Vaginal Tamponade through a catheter to clog the main
• Vaginal balloon tamponade can be a renal blood vessel
solution in difficult cases of intractable
vaginal hemorrhage or occult vaginal How is it Performed
bleeding causing vaginal hematoma • In UAE, tiny particles (like grains of sand)
• Usage are injected into the blood vessels
o Uterine balloon tamponade leading to your uterus
provides a necessary option to o These particles are guided into your
tamponade bleeding while uterine arteries through a thin,
transport occurs higher levels of flexible tube (called a catheter)
care using fluoroscopy, a form of X-ray
• How long does a balloon tamponade that captures moving images
stay in for • Your provider can control excessive
o The balloon will be left inside the bleeding
uterus for at least 6-12 hours • Tumors or fibroids shrink because their
blood supply is cut off

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Procedure
• You receive a sedative
o This is medicine that makes you
relaxed and sleepy
• A local painkiller (anesthetic) is applied
to the skin around your groin
o This numbs the area so you do not
feel pain
• The radiologist makes a tiny cut (incision)
in your skin
o A thin tube (catheter) is inserted
into your femoral artery
• The radiologist threads the catheter into
your uterine artery
o This artery supplies blood to the
uterus
• Small plastic or gelatin particles are
injected through the catheter into the
blood vessels that supply blood to the
fibroids
• UAE is done in both your left and right
uterine arteries through the same
incision. If needed, more than 1 fibroid is
treated
How Effective is it
• After receiving embolization, 85 to 90
percent of women experience
significant or total relief from heavy
bleeding, pain and symptoms related
to uterus enlargement
Why is it Done
• The main reason to have a uterine
fibroid embolization is to treat uterine
fibroid tumors that are causing pain or
other problems

Newborn Screening and Newborn Assessment
Professor: Maria Estela L. Villegas
LESSON OUTLINE • Who pioneered the concept of

newborn screening today?
Newborn Screening o Began in the early 20th century
1 Introduction o Sir Archibald Garrod, British
Milestones in the History of NBS in the physician
2
Philippines o Used the term inborn errors of
3 Legal Mandates and Issuances metabolism
4 RA 9288: Highlights o Pioneer in medical genetics
5 Statistics o Established that a problem in a
6 Common Disorders Detected by the specific biochemical pathway was
6 connected with a gene mutation
NBS
Newborn Screening Flow of • Four Inborn Errors of Metabolism (IEM)
7 o Albinism
Operations
8 Challenges o Alkaptonuria
9 6 Standard NBS and 28 Expanded NBS o Pentosuria
o Cystinuria
10 Onset of Signs and Symptoms
11 Advantages of Early Detection
Milestones in the History of NBS in the
12 Consequences of Late Detection
Philippines
Newborn Assessment • February 22, 1996
o First organizational meeting,
1 Points to Ponder
representatives from different PPS
2 Vital Signs
and POGS accredited hospitals in
3 Physical Exam
Metro Manila
• April 02, 1996
Newborn Screening (Metabolic)
o Creation of the NBS Study group
Introduction
composed of Pediatric and OB-
• Program Objective
Gynecology consultants from
o By 2030, all Filipino newborns are
participating hospitals
screened
o Project name
o Strengthen quality of service and
§ Philippine Newborn Screening
intensify monitoring and evaluation
Project
of NBS implementation
• June 27, 1996
o Sustainable financial scheme
o Commencement of the Philippine
o Strengthen patient management
Newborn Screening Project in 24
• Target Population
participating hospitals
o Filipino newborns
§ 18 private and 6 government
• Newborn Screening
• Sept. 18, 1997
o A form of preventive health care in
o Start of operation of the Newborn
which babies are tested within the
Screening Laboratory at the
first days of their life to discover
National Institutes of Health, UP
evidence of diseases for which the
Manila
principal symptoms may not be
apparent

• April 07, 2004

o Enactment of Republic Act 9288
known as the Newborn Screening
Act of 2004
• December 2014
o Expanded Newborn Screening
§ Inclusion of more than 20+
disorders in the NBS Panel of
Disorders
• May 2017
o Opening of the 6th NSC in Northern
Legal Mandates and Issuances
Luzon at the Mariano Marcos
• January 03, 2000
Memorial Hospital and Medical
o AO # 1-As 2000 by the Department
Center
of Health stating the Policies for the
• January 2019
Nationwide Implementation of
o Full coverage of expanded
Newborn Screening
newborn screening in the PhilHealth
• February 07, 2001
Newborn Care Package
o DOH DO No. 29-Cs 2001
• February 2020
o Subject: "Creation of the National
o Opening of the 7th NSC in Central
Technical Working Group on
Visayas at the Eversley Childs
Newborn Screening Program under
Sanitarium and General Hospital
the National Center for Disease
(ECSGH) in Jagobiao, Mandaue
Prevention and Control”
City, Cebu
o The group was tasked to provide
direction and guidance for the
RA 9288: Highlights
nationwide implementation of the
• Section 2: Declaration of the Policy
NBS program (see Annex B)
• Section 5: Obligation to Inform
o DO 29-Cs 2001 has been amended
• Section 9: Licensing and Accreditation
by DPO 2005-1660 to reconstitute
• Section 10: Lead Agency
the NTWG membership
• Section 12: Establishment and
• 2003
Accreditation of NBC
o DOH AO No 121, s 2003
• Section 16: Newborn Screening Fees
o Subject: "Strengthening
Implementation of the National
Section 2: Declaration of the Policy
Newborn Screening System"
• Institutionalize the National NBS System
• January 20, 2004
that is
o Presidential Proclamation No, 540,
o Comprehensive
Subject: "Declaring the First Week of
o Integrative
October of each year as "National
o Sustainable
Newborn Screening Awareness
o Collaborative
Week"
• Ensure that every baby born in the
Philippines is offered the opportunity to
undergo NBS

Section 5: Obligation to Inform Statics

• Obligation of Health Workers to inform
parents or legal guardians of the
newborn about newborn screening
Section 9: Licensing and Accreditation

• DOH and PHIC shall require health
institutions to provide newborn
screening services as condition for
licensure and accreditation
Section 10: Lead Agency

• The DOH shall be the lead agency in
implementing this Act. For purposes of
achieving the objectives of this Act, the
DOH shall
Section 12: Establishment and Accreditation

of NBC
• DOH shall ensure that NBS are
strategically located; accessible to the
relevant public; and provide services
that comply with the standards
approved by the Committee
Section 16: Newborn Screening Fees

• The PHIC shall include cost of newborn
screening in its benefits package
• The newborn screening fee shall be
applied to, among others, testing costs,
education, sample transport, follow-up
and reasonable overhead expenses
NBS Screened Babies

2015, December 7,709,243
2017 9,550,832
2018, October 11,954,360
2019, December 13,791,941

6 Common Disorders Detected by the NBS Classic MSUD

• Congenital Adrenal Hyperplasia
• Congenital Hypothyroidism Intermediate MSUD
Maple Syrup Urine
• Phenylketonuria (PKUD) Disease (MSUD) Intermittent MSUD
• Galactosemia (GAL)
Thiamine-
• Glucose-6-Phosphate Dehydrogenase
Responsive MSUD
Deficiency (G6PD)
Classical
• (Maple Syrup Urine Disease (MSUD)
Mild
Phenylketonuria
BH4 Variant
Expanded NBS (PKUD)
Hyper-Phenyl-
CH
Endocrine Disorders Alanin-Nemia
CAH
Classical
Amino Acid MSUD Galactosemia
Non-Classical
Disorders PKUD (GAL)
Variant
GAL
Others Glucose-6-
G6PD
Phosphate
Organic Acid
Dehydrogenase
Disorders
Deficiency (G6PD)
Fatty Acid Oxidation
Disorders
Disorder Subtypes
Hemoglobinopathies
(<10% activity)
Class I: with chronic
Disorder Subtypes Severe (nonspherocytic)
deficiency hemolytic
Permanent CH- anemia
Dysgenesis
Class II: (<10% activity),
Severe with intermittent
Congenital Transient CH deficiency hemolysis
Hypothyroidism
(CH) Class III: (10-60% activity),
Transient Moderate hemolysis with
Abnormalities of TF G6PD deficiency stressors only
Tests
Class IV:
Classic Salt-Wasting Non No clinical
(SW) deficient sequelae
variant
Congenital Adrenal Classic Simple
Class
Hyperplasia (CAH) Virilizing (SV)
V:
No clinical
Non-Classic Increased
sequelae
(NCCAH, mild or enzyme
late onset) activity

Treatment Gene-Phenotype Relationship
Glucocorticoid,
Location Phenotype
CAH Supplementation Mineralocorticoid,
NaCl Hypothyroidism,
CH Supplementation Thyroid hormone 1p13.2 congenital,
nongoitrous 4
GAL Avoidance Galactose, Lactose
Hypothyroidism,
PKU Avoidance Protein Diet 2q14.1 congenital, due to
Oxidative Drugs, thyroid
G6PD Avoidance Food and Hypothyroidism,
Chemicals 5q35.1 congenital,
MSUD Avoidance Protein Diet nongoitrous 5
Hypothyroidism,
8q23.1 congenital,
Congenital Hypothyroidism (CH)
nongoitrous 7
• Causes of congenital hypothyroidism
Hypothyroidism,
include iodine deficiency and a
14q31.1 congenital,
developmental defect in the thyroid
nongoitrous 1
gland, either due to a genetic defect or
Hypothyroidism,
of unknown cause
15q25.3 – q26.1 congenital,
• A condition characterized by absence
nongoitrous 3
or deficiency of thyroid hormone (serum
Hypothyroidism,
free T4) since birth
17q21.1 congenital,
nongoitrous 6
Signs and Symptoms
Hypothyroidism,
• Infants born with congenital
Xp22.31 – p22.2 congenital,
hypothyroidism may show no effects, or
may display mild effects that often go nongoitrous 8
unrecognized as a problem Hypothyroidism,
Xq22.3
o Excessive sleeping congenital
o Reduced interest in nursing
o Poor muscle tone Early Clinical Manifestations
o Low or hoarse cry • Normal at birth and first 3-4 months of
o Infrequent bowel movements life
o Significant jaundice • Neurologic
o Low body temperature o Lethargy
• If the fetal thyroid hormone deficiency o Hoarse voice
is severe because of complete o Poor cry
absence (athyreosis) of the gland • Respiratory
• Physical features may include o Apnea
o A larger anterior fontanel o Difficulty of breathing
o Persistence of a posterior fontanel o Noisy respiration
o A large tongue (macroglossia) o Choking spells
o Umbilical hernia

• Skull and Face Congenital Adrenal Hyperplasia

o Delayed closure of fontanels • Congenital adrenal hyperplasia (CAH)
o Depressed nasal bridge is a group of autosomal recessive
• Gastrointestinal disorders characterized by impaired
o Constipation cortisol synthesis
o Feeding difficulties • It results from the deficiency of one of
o Prolonged jaundice the five enzymes required for the
o Umbilical hernia synthesis of cortisol in the adrenal cortex
• Skin • Autosomal recessive
o Mottling o A genetic condition that appears
o Thick, dry, cold skin only in individuals who have
o Pallor received two copies of an
o Puffiness around the eyes autosomal gene, one copy from
each parent
Late Clinical Manifestations o The gene is on an autosome, a
• Mental retardation nonsex chromosome
• Growth retardation
• Delayed skeletal maturation
• Delayed dental development and
tooth eruption
• Delayed puberty
Treatment
• Management of transient congenital
hypothyroidism
o Levo-thyroxine
o Not later than 2 weeks of life
o Normalize T4 within 2 weeks and TSH
Etiology
within 1 month
• Most of these disorders involve
o Crush tablet and mix with
excessive or deficient production of
water/milk on an empty stomach
hormones such as glucocorticoids,
o Do not mix with soya/Iron/Calcium
mineralocorticoids, or sex steroids, and
• Dose
can alter development of primary or
o 0-12 mos
secondary sex characteristics in some
§ 10-15 ug/kg/day
affected infants, children, or adults
o 1.5 vears,
• It is one of the most common autosomal
§ 5ug/kg/day
recessive disorders in humans
o 6-12 years
§ 4ug/kg/day
o Adolescents
§ 3ug/kg/day

Case Presentation
• History of Present Illness
o Hospital delivery via NSD full term;
AS 9, 10; weight 2,150 gms; head
circumference 29.5cms; length 47
cms; SGA
o Route newborn care done
o Dark-skinned
• Physical Examination
o Genitalia: hyperpigmented 2cm,
penis-like structure; scrotum-like
labia majora; (+) vaginal opening;
Clinical Manifestations
(+) urethral meatus; no gonads
• Salt Losers
palpated
• Many manifests within 7-14 days after
birth
Pathophysiology
o Vomiting
o Excessive urination
o Dehydration
o Poor suck
o Irritability
o Seizures
o Failure to thrive
o Hypotension
o Shock
o Coma
• Insufficient Cortisol
o Classic CAH causes the body to
produce an insufficient amount of
cortisol
o This can cause problems
maintaining normal blood pressure,
blood sugar and energy levels, and
cause problems during physical
stress such as illness
• Adrenal Crisis
o People with classic CAH can be
seriously affected by a lack of
cortisol, aldosterone or both
o This is known as an adrenal crisis,
and it can be life-threatening

• Atypical Genitalia
GIRLS BOYS
o Female infants
§ May have atypical genitalia Abnormal external
Enlarged penis
appearance as an enlarged genitalia
clitoris that may resemble a
penis, and partially closed Excessive hair on Small testis upon
labia resembling a scrotum face reaching adolescent
§ The urinary opening (urethra)
Early appearance Early appearance of
and the vagina may be only
of pubic & axillary masculine
one opening instead of two
hair characteristics
separate openings
§ The uterus, fallopian tubes and Early appearance of
ovaries usually develop Deepening of
pubic and axillary
typically voice
hair
o Male infants
§ Usually have typical-appearing Menstrual
Early growth spurt
genitals irregularities
• Fertility Issues
o These can include irregular
Treatment
menstrual periods, or not having
• Lifelong replacement of deficient
any at all, and having infertility
cortisol and aldosterone
problems in females
• Reconstructive surgery
o Fertility Issues can sometimes occur
• Dose
in males
o Hydrocortisone
• Altered Growth
§ 5-15mg/m2/day
o Rapid growth may occur during
o Fluodrocortisone
childhood with an advanced bone
§ 0.05-0.1mg/day
age
o Final height may be shorter than
Phenylketonuria
average
• Also called PKU
• Excess Androgen
• A rare inherited disorder that causes an
o An excess of the male sex hormone
amino acid called phenylalanine to
androgen can result short height
build up in the body
and early puberty for both males
• PKU is caused by a change in the
and females
phenylalanine hydroxylase (PAH) gene
o Pubic hair and other signs of
o This gene helps create the enzyme
puberty may appear at a very early
needed to break down
age
phenylalanine
o Severe acne also may occur
• Autosomal Recessive
o Excess androgen hormones in
females may result in facial hair,
excessive body hair and a
deepening voice

Etiology Treatment
• Phenylalanine • Timing is important!
o Essential amino acid found in most o Must be started within the first 20
protein diets days of life
• Tyrosine • Starting treatment early and continuing
o Produce from phenylalanine treatment throughout life can help
o Component of substances that prevent intellectual disability and major
regulate body functions health problems
(hormones/ pigments) • A lifetime diet with very limited intake of
o Inefficient production of tyrosine foods with phenylalanine
from phenylalanine • Taking a PKU formula
o Complete absence or profound o A special nutritional supplement -
deficiency of enzyme activity for life to make sure that you get
(phenylalanine hydroxylase) enough essential protein (without
phenylalanine) and nutrients that
Pathophysiology are essential for growth and
general health
• Medications, for certain people with
PKU
• Which foods and products to avoid
o Because the amount of
phenylalanine that a person with
PKU can safely eat is so low, it's
important to avoid all high-protein
foods, such as
§ Milk
§ Eggs
§ Cheese
• Very high levels of blood phenylalanine
§ Nuts
o Excessive amounts of waste
§ Soy products
products
Ø Such as soybeans, tofu,
o Phenylalanine (phenylketones) in
tempeh and milk
the urine
§ Beans and peas
o "Mousy odor"
§ Poultry, beef, pork and any
• Low serum levels of tyrosine
other meat
o Disturbance in hormone and
§ Fish
pigment production
• Clinical Manifestations
o Vomiting
o Hyperactivity
o Seizures and hypertonia
o Musty or mousy urine odor
o Light hair and skin color
o Seborrheic or eczematoid rash
o Mental retardation

Galactosemia Clinical Manifestations

• Galactosemia is a disorder that affects • Appear normal at birth
how the body processes a simple sugar • Signs and symptoms
called galactose o Depends on the level of enzyme
o A small amount of galactose is deficiency
present in many foods • Usually appears in the first few days of
• It is primarily part of a larger sugar called life after ingestion of breastmilk or milk
lactose, which is found in all dairy formula
products and many baby formulas o Vomiting, diarrhea, feeding
• The signs and symptoms of difficulties
galactosemia result from an inability to o Jaundice, lethargy, weakness,
use galactose to produce energy coma
• Clinical Manifestations
Etiology o Swelling of the brain
• Due to defective genes that encode for § Called "edema”
the enzymes involved in the breakdown o Pressure around the brain
of galactose o Not wanting to eat
• Autosomal recessive o Kidney Issues
• Most common deficient enzyme o Spitting up or vomiting
o GAL o Liver failure
§ Galactose-1-phosphate o Jaundice
uridyItransferase § Yellowing of skin and eyes
o Enzyme that converts galactose to o Sepsis
glucose § Extreme reaction to infection
o Brain damage
Physiology o Cataracts
o Enlarged liver
o Kidney damage
o If a galactosemic infant is given milk,
unmetabolized milk sugars build up
and damage the liver, eyes,
kidneys and brain
• Later: Excess galactose deposits in
tissues
o Brain
§ Mental retardation
o Lens
§ Cataracts
o Liver
§ Hepatomegaly, edema,
ascites, cirrhosis
o Kidneys, growth failure

Treatment Physiology
• Low-galactose diet • Functions of G6PD
o The best treatment for o Certain food and drugs have
galactosemia, which means milk oxidant properties that causes cell
and other dairy products cannot damage
be consumed o Produce H202 and other reactive
o There is no cure or medication that oxidizing agents (OH-)
can replace the missing enzymes o In RBCs, the only mechanism to
o Following a low-galactose diet can neutralize oxidative substances is
help to reduce the risk of through the G6PD activity
complications but not all of them
§ Some children can still develop Pathophysiology
learning disabilities, speech
troubles and delays, and
reproductive issues
• Protein-restricted diet
• Fat-restricted diet
• Carbohydrate-restricted diet
Glucose-6-Phosphate Dehydrogenase
Deficiency
• It is an X-linked recessive disorder that
results in defective glucose-6-
phosphate dehydrogenase enzyme • Without G6PD, RBCs undergo
• Glucose-6-phosphate dehydrogenase HEMOLYSIS when exposed to oxidative
is an enzyme which protects red blood stress
cells, which carry oxygen from the lungs
to tissues throughout the body
• A defect of the enzyme results in the
premature breakdown of red blood
cells
o This destruction of red blood cells is
called hemolysis
• G6PD mutation is the most common red
cell enzymopathy
• Affected males are hemizygous; XY
• Affected females may be heterozygous
or homozygous: X0, XX

Clinical Manifestations Etiology

• Acute hemolytic crisis • Defective decarboxylation of leucine,
o Anemia isoleucine, and valine
o Decrease oxygen delivery
o Enlarged spleen
• Increased Bilirubin
o Jaundice, tea colored urine
o Tissue accumulation
§ Brain – kernicterus
§ Gallbladder – gallstones
Pathophysiology
Causes
• Drugs
o Sulfonamides
o Quinolones
o Chloramphenicol
o Vitamin K
• Chemicals
o Mothballs
• Food
o Fava beans
• Infections
o H202
Maple Syrup Urine Disease • All four types of MSUD have symptoms
• Maple syrup urine disease (MSUD) is an including
autosomal recessive metabolic disorder o Urine, sweat, or earwax that smells
affecting branched-chain amino acids like maple syrup or burnt sugar
• It is one type of organic acidemia § This disorder got its name from
• The condition gets its name from the this common symptom
distinctive sweet odor of affected § This may not always be present
infants' urine, particularly prior to in all types
diagnosis and during times of acute o Poor feeding, vomiting, loss of
illness appetite, irritability
• Deficiency of this enzyme system o Sluggish/slow/tiredness and
causes MSUD weakness
o Named after the sweet odor of o Changes in muscle tone
maple syrup § Poor muscle tone, muscle
o Found in body fluids, especially tightness/tension
urine o Abnormal muscle movements,
• Based on clinical findings and response spasms that cause a backward
to thiamine administration arching of the head, neck and
• Five phenotypes of MSUD have been spine
identified

NSUD and Other Urine Odors early as during the conduct of pre-
marriage counseling
• The NBS team members should know
when is the best timing for parents to be
informed and educated on newborn
screening
• Posters, fliers, film and video showing
are also important aids in making
parents aware and informed of
newborn screening
Step 2: Collecting Samples

• Done in the participating health
facilities
o Hospital
o Health Centers, Rural Health Unit
Treatment
o Lying-ins or birthing facilities
• Protein-free diet
o Or done at home
• Intravenous administration of amino
• By any of the following
acids that don’t contain branched
o Physician (consultants, residents,
chain amino acids, combined with
municipal health officers)
glucose for extra calories
o Nurse
• Infants have a diet of formula with low
o Medical Technologist
levels of the amino acids leucine
o Midwife
isoleucine, and valine
• Samples should be collected at the:
o Right time
Newborn Screening Flow of Operations
o Right place
• Steps
o Right procedure/methods
o Motivating parents
• Right time
o Collecting samples
o Baby is screened after 24th hours of
o Handling and sending samples to
life
the laboratory
o Baby had an adequate milk intake
o Performing the tests
o Breastfeeding is strongly
o Relaying/releasing results
encouraged
o Recalling patients
o Before any procedure such as BT,
o Managing/referring/monitoring of
TPN, or before
positive cases
o Putting baby on NPO
• Preferred method
Step 1: Motivating Parents
o The heel prick method is the
• It is important to motivate parents early
preferred method over other
enough to allow them to prepare for
methods of blood sample
the NBS fee
collection for newborn screening
• It is best done during prenatal visits,
parents' classes, during home visits or as

• Venous blood • NBS Filter Card Pointers

o Used when there are other o If mother is married, last name refers
laboratory tests using blood to her MARRIED SURNAME
samples are being done on the o If unmarried, use the mother's
baby MAIDEN SURNAME
o Reasons why venous blood is § Refers to the time the baby was
discouraged born "hmm" = hours, minutes
§ It is more invasive § Check AM box if baby was
§ More traumatic to the newborn born in the morning
and § Check PM box if baby was born
§ Blood collected from the veins in the afternoon
has § Write M if the baby is male
§ The tendency to over saturate § Write F if the baby is female
the filter card § Write A for babies with
ambiguous genitalia
NBS Filter Card Ø External genitalia does not
conform to the "typical"
male or female
appearance
• Feeding
o Tick the box that corresponds to the
type of feeding given
§ Breast
§ Lactose Formula
§ Soy/Lactose-Free
§ NPO
§ TPN
§ 1 & 2 (Mixed feeding of breast
and lactose)
§ 1 & 3 (Mixed feeding of breast
and soy)
o Note
• Filling out the information needed in the § Feeding is important in
filter card interpreting GAL and PKU test
o Use BLACK or BLUE ball pen results
§ Do not use a pencil § For 3, 4, 5 - repeat NBS required
o Fill out all items LEGIBLY and when newborn is ol full lactose
COMPLETELY feeds for 24 hours
o ALL of the information on the filter o Glucose-water feeding is
card is IMPORTANT for the considered NPO
interpretation of results • Equally important are the following
§ Are critical for the immediate o The hospital and place of collection
recall of patients with o Attending Physician
abnormal values

o Physician's contact number and

mobile number
§ It is important that all possible
contact numbers of the
physician are available so the
NSCs can easily recall the
patients on time in case of a
screen positive result
o And, lastly, the baby's status
whether normal, sick or premature,
if on antibiotics, transfused, or
combination of any, and other
clinical relevant information as
these are important in the analysis
of test results
Sample Collection
• Prepare the necessary materials
o Alcohol
o Dry and wet cotton swabs
o Lancet (3mm tip)
o Micropore tape
o Completely filled out filter card
o Drying Rack
o Gloves
• Gently massage the baby's heel to Invalid Specimen
warm it. This will help increase the blood
flow
• To clean the heel, wipe with alcohol
• Dry with a cotton swab

Step 3: Handling and sending samples to Organic Acid Metabolism Disorders

the laboratory • IVA - Isovlaleric acidemia
• Means of Transportation • GA 1 - Glutaric acidemia type 1
o Boat • HMG - 3-OH 3-CH3 glutaric aciduria
o Plane • MCD - Multiple carboxylase deficiency
o Car • MUT - Mythylmalonic acidemia (mutase
deficiency
Step 6: Recalling Patients • 3MCC - 3-Methycrotonyl-CoA
• Prompt recall of patients would mean carboxylase deficiency
prompt management of babies • CbI A,B - Methylmalonic acidemia
thereby saving them from possible • PROP - Propionic acidemia
mental retardation and death • BKT - Beta-katothiolase deficiency
• Never give up on any case
• Should there be difficulty in recalling Fatty Acid Oxidation Disorders
patients, you may seek the assistance of • MCAD - Medium-chain acyl-CoA
DOH Regional Office dehydrogenase deficiency
• VLCAD - Very long-chain acyl-CoA
Challenges dehydrogenase deficiency
• Turn Around Times (Transit Time, Age of • LCHAD - Long-chain L-3-OH acyl-CoA
Collection, Age at Recall, Confirmatory dehydrogenase deficiency
and Treatment) • TFP - Trifunctional protein deficiency
• Quality Indicators' acceptable targets • CUD - Carnitine uptake
(Quality of samples, Recall rate,
Mortality rate, etc) Amino Acid Metabolism Disorders
• Number Inactive Newborn Screening • PKU – Phenylketonuria
Facilities (NSF) • MSUD - Maple syrup urine disease
• Philhealth reimbursements of NSF claims • HCY – Homocystinuria
• Patient's compliance or adherence to • CIT – Citruflinemia
Treatment • ASA - Argininosuccinic acidemia
• Expanding Management and Referral • TYR I - Tyrosinemia type I
Network
• Current pandemic affecting the NBS Hemoglobinopathies
implementation • SCA - Sickle cell anemia
• Hb S/Th - Hb S/ Beta-thalassemia
6 Standard NBS and 28 Expanded NBS • Hb SIC - Hb S/C disease
• 6 Standard NBS: 550 pesos
• 28 Expanded: NBS 1,500 pesos Others
• Categories • HYPOTH - Congenital hypothyroidism
o Organic Acid Metabolism Disorders • BIOT - Biotinidase deficiency
o Fatty Acid Oxidation Disorders • CAH - Congenital adrenal hyperplasia
o Amino Acid Metabolism Disorders • GALT – Galactosemia
o Hemoglobinopathies • HEAR - Hearing deficiency
o Others

Onset of Signs and Symptoms
CAH 7-14 days

CH 4 weeks
GAL 2 weeks
PKU 3 weeks
G6PD Def No Golden Period
MSUD 1st few weeks/months
Advantages of Screening Early
CAH Normal
CH Alive/Normal
GAL Alive/Normal
PKU Normal
G6PD Def Normal
MSUD Alive/Normal
Consequences of Late Detection
CAH Death
Severe Growth and
CH
Mental Retardation
GAL Death or cataracts
Severe Mental
PKU
Retardation
Severe Anemia,
G6PD Def
Jaundice, Kernicterus
MSUD Death

Newborn Physical Assessment o Weight Large for Gestational Age

Points to Ponder (LGA)
• Always make the baby comfortable § Birth weight >90th percentile on
• Baby's are unique, not just a small adult the intrauterine growth curve
• Examine the baby anytime, and in any
order
• Re-examine the baby in another time,
and do not rush the PE
• Build confidence and do it based on
appropriate practice
• Head to Toe
• Outside to Inside (invasive)
• Present position, then change position
• Prepare/ready equipment always
• Equipment within your reach, but away
from baby's reach
• Always make the examiner
comfortable
• Always examine the baby with a legal
adult
• Ways to Assess
o IAPerPal
§ Inspection
§ Auscultation
§ Percussion
§ Palpation
o IPerAPal
§ Inspection
§ Percussion
§ Auscultation
§ Palpation
• Weight
o Weight Small for Gestational Age
(SGA)
§ Birth weight <10th percentile on
the intrauterine growth curve
o Weight Appropriate for Gestational
Age (AGA)
§ Birth wight within the 10th and
90th percentiles on the
intrauterine growth curve

Vital Signs • G: Grimace

• APGAR Score o Response to stimulation, such as
• Respiratory Rate suctioning the baby's nose
• Temperature o 0 points: absent
• Pulse o 1 point: facial movement/grimace
• Blood Pressure with stimulation
• Length/Height o 2 points: cough or sneeze, cry and
• Weight withdrawal of foot with stimulation
• Head Circumference • A: Appearance (color)
o 0 points: blue, bluish-gray, or pale
APGAR Score all over
• The Apgar scoring system is divided into o 1 point: body pink but extremities
five categories o 2 points: pink all over
o Each category receives a score of • R: Respiration/Breathing
0 to 2 points o 0 points: absent
• At most, a child will receive an overall o 1 point: irregular, weak crying
score of 10 o 2 points: good, strong cry
o However, a baby rarely scores a 10
in the first few moments of life PGAR Score
o This is because most babies have
blue hands or feet immediately Criteria 0 1 2
Blue or Blue Hands or Entirely
after birth Appearance
Pale Feet Pink
• General Survey – Clinic Pulse Absent <100 >100
o PRAGA Cough,
Grimace Absent Grimace
§ Pulse (most stable) Sneeze
Some extremity Active
§ Respiratory Rate Activity Limp
flexion motion
§ Activity Weak cry, Strong
Respirations Absent
§ Grimace hypoventilating cry
§ Appearance
Respiratory Rate
APGAR Scoring
• A: Activity/Muscle Tone RR HR
Age
o 0 points: limp or floppy (breaths/min) (beats/min)
o 1 point: limbs flexed <2 months <60
o 2 points: active movement 2-12
<50 <160
• P: Pulse/Heart Rate months
o 0 points: absent 1-5 years <40 <120
o 1 point: less than 100 beats per 6-8 years <30 <110
minute 9-14 years <20 <110
o 2 points: greater than 100 beats per
minute

• Is my child breathing too much • Infection

o Up to 6 months o Many infections may occur in a
§ 30-60 breaths/min (bpm) baby after birth due to exposure to
o 6-12 months bacteria either during or after
§ 24-30 bpm delivery
o 1-5 years
§ 20-30 bpm Head Circumference
o 6-12 years • Determine head circumference at
§ 12-20 bpm every physical examination during the
o 12 years and up first 2 year
§ 12-20 bpm • Place the tape over the occipital,
parietal, and frontal prominences to
Range Values obtain the greatest circumference
• Newborns • During infancy and early childhood this
o The normal respiratory rate for a is done best with the patient supine
new-born is between 30-50 breaths
per sixty seconds Abnormalities
• 0-5 months • Premature closure of the sutures or
o The normal respiratory rate for microcephaly may cause small head
infants aged 0-5 months is between size
25-40 breaths per sixty seconds • Hydrocephalus, subdural hematoma, or,
• 6-12 months rarely, brain tumor or inherited
o The normal respiratory rate for syndromes may cause an abnormally
infants aged 6-12 months is large head size
between 20-30 breaths per sixty • Bruises and swelling are common
seconds responses to trauma and will resolve
with time
Abnormalities o Be aware that the bruises may
• Transient Tachypnea of the New-born contribute to jaundice
o During birth, the amniotic fluid • Birth injuries are bruises, lacerations or
within a baby's lungs is squeezed lesions from amniotic hook, fetal scalp
out as it passes through the birth electrode, ventouse cap or forceps
canal o Observe for signs of infection
o If the amniotic fluid remains after • Cephalhaematoma
birth, it is may cause tachypnea, or o Accumulation of blood below the
fast breathing periosteum which is contained
• Respiratory Distress Syndrome within suture lines and may be
o Respiratory distress syndrome unilateral of bilateral
occurs when not enough of this o More commonly found with forceps
substance (as surfactant) is or vacuum assisted delivery
produced, leading to a difficulty in
oxygenation of the blood

• Head Size Thermometer Options

o Note the occipito-frontal • Digital thermometer
circumference (OFC) o These thermometers use electronic
o The normal range for a term baby is heat sensors to record body
32-37cm (31.75 - 34.29cm) temperature
• Macrocephaly o They can be used in the rectum
o >90th percentile on growth chart (rectal), mouth (oral) or armpit
o This may be familial or moulding (axillary)
o Also linked to subaponeurotic o Armpit temperatures are typically
haematoma and hydrocephalus the least accurate of the three
o A large head with widely separated • Digital ear thermometers
sutures may need an immediate o Tympanic membrane
ultrasound o These thermometers use an infrared
• Microcephaly scanner to measure the
o 10th percentile on growth chart temperature inside the ear canal
o Cause may be chromosomal, o Keep in mind that earwax or a small,
metabolic, congenital infection curved ear canal can interfere with
(Zika) or an isolated microcephaly the accuracy of an ear
o Refer further management thermometer temperature
• Temporal artery thermometers
Temperature o You place on the skin of your
• The best type of thermometer forehead to get a readout of your
o Or the best place to insert the body temperature
thermometer o It uses infrared technology to
o In some cases - depends on your measure the heat energy your
child's age body gives off
• Birth to 3 months
o Use a regular digital thermometer Thermometer Technique
to take a rectal temperature • Rectal temperature
• New research suggests that a temporal o Turn on the digital thermometer
artery thermometer might also provide and lubricate with petroleum jelly
accurate readings in newborns o Insert the lubricated thermometer
• Thermometer option 1/2 to 1 inch (1.3 to 2.5 centimeters)
o Glass mercury thermometer into the rectum
§ Was once a staple in most o Never try to force a rectal
medicine cabinets thermometer past any resistance
§ Today, mercury thermometers • Oral temperature
aren't recommended because o Place the tip of the thermometer
they can break and allow under your child's tongue toward
mercury to vaporize and be the back of the mouth and ask your
inhaled child to keep his or her lips closed

• Armpit temperature Blood Pressure

o When you place the thermometer • Measure blood pressure at least once
under your child's armpit, make sure during infancy
it touches skin - not clothing • Should be part of the PE for every
• Ear temperature child >2 years
o Hold the thermometer tightly in • Although the hand-held method is
place until the thermometer signals common, the most easily used measure
that it's done of systolic blood pressure in infants and
• Temporal artery temperature young children is obtained with the
o Gently sweep the thermometer Doppler method
across your child's forehead • BP apparatus
o Sphygmomanometer method
Clean Thermometer o Doppler method
• Always clean after use
o You do not know who will use it after Normal Range
you • Blood pressure rises as the baby grows
• Assign specific thermometer for the oral o The average blood pressure in a
and or the mouth newborn is 64/41
• The average blood pressure in a child 1
Pulse month through 2 years old is 95/58
• Pulse • lt is normal for these numbers to vary
o The heart rate is quite variable and
will increase markedly with Age Systolic Diastolic
excitement, crying, or anxiety Birth (12hrs) 60-85 45-55
o Therefore, measure the pulse when Neonate
67-84 35-53
the infant or child is quiet (96hrs)
• Tachycardia Infant (1-
o >180-200 beats per minute 80-100 55-65
12mo)
o Usually indicates paroxysmal Toddler (1-2y) 90-105 55-70
supraventricular tachycardia Preschooler
• Bradycardia 95-107 60-71
(3-5y)
o May result from serious underlying School-age
disease 95-110 60-73
(6-9y)
Preadolescent
Location 100-119 65-76
(10-11y)
• Carotid Pulse Adolescent
• Radical Pulse 110-124 70-79
(12-15y)
• Dorsalis Pedis
• Femoral pulse
• Brachial Pulse

Causes of Sustained Weight

Hypertension in Children • Weigh infants directly with an infant
• Newborn scale, rather than directly by holding
o Renal artery disease (stenosis, them while you (mother) stand on the
thrombosis) scale and subtracting your weight
o Congenital renal malformations • Remove all clothing, except for pant
o Coarctation of the aorta • Use same scale at each visit
• Infancy and Early Childhood • Place weighing scale on a solid surface
o Renal parenchymal or artery • Check for a soiled diaper
disease • Use appropriate Growth Chart for
o Coarctation of the aorta Filipino, and sex
• Middle Childhood o Investigate
o Primary hypertension § >97th percentile or <3%
o Renal parenchymal or arterial percentile on standard growth
disease charts
o Coarctation of the aorta § Severely underweight
• Adolescence § Underweight
o Primary hypertension § Normal
o Renal parenchymal disease § Overweight
o Drug induced
Summary
Length/Height
• Measure the body length in supine Inspection Auscultation Percussion Palpation
RR Yes Yes Yes
position on measuring board Temp Yes Yes
• Head touches the headboard Pulse Yes Yes Yes

BP Yes
• Knees should be supported and Length Yes
Weight Yes
touches the board HC Yes Yes
• May make markers from the crown and
the heel of the infant on the examining
table then measure
• Height is measured in older children by
standing with heels, back and head
against a wall marked a cm
• Use appropriate Growth Chart for
Filipino, age and sex
o Investigate
§ >97th percentile or <3%
percentile on standard growth
charts

Physical Exam Head and Neck

• Skin • The bones of the skull are separated
• Head and Neck from one another by membranous
• Eyes tissue spaces called sutures
• Ears • The areas where the major sutures
• Nose and Throat intersect in the anterior and posterior
• Mouth and Pharynx portions of the skulls are fontanelles
• Thorax, Breast, and Lungs • Anterior fontanelle
• CVS/Heart o 4-6cm at birth
• Abdomen o Closes at 4-26 months of age
• Genitalia and Rectum • Posterior fontanelle
• Musculoskeletal System o 2 cm
• Nervous System o Closes by 2 months (early)
Skin
• Common skin normal variations (no
treatment required)
• Superficial peeling
o Often seen, particularly post term
• Acrocyanosis
o Bluish discoloration of hands and
feet
o Benign, exacerbated by low
temperature
• Circumoral cyanosis
o Bluish discoloration around the Neck
mouth • The neck of the newborn is relatively
• Lanugo short
o Fine hair • Inspection, Auscultation, Percussion,
• Erythema Toxicum Neonatorum Palpation
o Small white/yellow papules vesicles • Feel for
with erythematous base o Lymph nodes, masses, cysts
o Benign, can be found anywhere on o Position of the thyroid cartilage
the body o Trachea
o Can be present for up to 2 weeks o Clavicles
after delivery § Evidence of fracture
• Epstein's Pearls and Milia o Move neck left and right: 90°
o Epidermal cysts caused by blocked
sebaceous gland secretions
o Epstein's pearls can be found in
mouth and penis, milia on nose
o Resolve spontaneously

Lymph Nodes Internal

• Ophthalmoscopic examination
o Set to 0 diopter
• Viewing distance is approx. 10 inches
• Leukocoria is a white papillary reflex
o Instead of the normal red papillary
reflex
• It can be a sign of a rare tumor called
retinoblastoma
Visual Milestones of Infancy
Birth Blinks, may regard face

1 Month Fixes on objects
Coordinated eye
1½-2 Months
movements
Eyes Eyes converge, baby
3 Months
• Before the examination practitioners reaches
should establish 12 Months Acuity around 20/50
o Baby's family history (childhood eye
disorders, particularly congenital Ears
cataract and retinoblasoma) • Check position, shape, and features
• Bilateral examination • Small, deformed or low-set auricles may
o Covers indicate associated congenital defects,
§ Eye opening - presence of eyes especially renal disease
§ Position and symmetry
§ Size and color Abnormalities
• Newborns and young infants may look • Pre-auricular tags
at your face and follow a bright light if o Epithelial mounds or pedunculated
you catch them while alert skin tags that arise near the front of
• Inspect the iris for the presence of the ear around the tragus
Brushfield's spots o They have no bony, cartilaginous,
o Presence of Brushfield's spots highly or cystic components and do not
suggest Down's syndrome communicate to the ear canal or
middle ear
External o Referral to plastic surgeons
• Look at the sclera (white) carefully • Pre-auricular sinuses
• DO not directly point the light source to o Should be referred to the ear, nose
the NB eyes and throat surgeons (ENT) as
• Use appropriate light source for surgery may be required and
controlled light and lower the multiple infections are likely
surrounding brightness
• Small subconjunctival hemorrhages are
common

Nose and Throat Thorax, Breast, and Lungs

• Look for clear nasal passages • Carefully assess respirations and
• If nasal flaring is evident look for other breathing pattern during the first hour of
signs of respiratory distress life of
• Should be elicited when baby is not o Color
crying o Respiratory rate
• Inspect using tongue blade and o Presence of grunting or respiratory
penlight (nose and throat) distress
• Test patency of the nasal passages by • Carefully assess respirations and
occluding alternately each nostril while breathing pattern
holding the infant's mouth closed • Apnea (full 1 minute)
• With choanal atresia, the baby cannot • Do not rush to the stethoscope, but
breathe if one nostril is occluded observe the patient carefully first
• Confirm obstructed posterior nasal o Upper respiratory infections may
passages by attempting to pass a cause nasal flaring
number 14 French catheter through
each nostril into the posterior Examination of the Lungs in Infants
nasopharynx - Before You Touch the Child
Mouth and Pharynx Possible

Assessment Explanation
• Examination may present difficulties, Findings
Lower
and restraints are usually needed
Inability to respiratory
• Always ready with your equipment feed or smile infections
o Timing is important, especially when below the
baby is crying General vocal cords
• Take care of produce gag reflex when Appearance (ex.
using the tongue depressor (but not Lack of Bronchiolitis,
consolability pneumonia)
usually recommended for neonate)
are common
• Usually opens mouth even with
in infants
touching the mouth Cardiac or
• Observe the newborn during and after Respiratory
Tachypnea respiratory
Rate
breastfeeding disease
• Cleft lip and palate or palate only Cardiac or
Pallor or
Color pulmonary
cyanosis
disease
Breast
• The breasts of males and females may
be enlarged for months after birth as a
result of maternal estrogen, and even
engorged for 1 to 2 weeks with a white
liquid
• "Witch milk"

CVS/Heart Abdomen
• Inspection • A check of whether the baby has
o Any dysmorphic features e.g. passed meconium and urine
features of Down's syndrome o Enquiring about urine stream in a
§ 40-50% have heart defects boy
o Observe for signs and symptoms of • Inspection for abdominal distension,
respiratory distress, such as umbilical hernia, and the cord stump
tachypnoea, retractions and • Auscultation need not form part of the
grunting routine abdominal examination
o General appearance, color and • Palpation for any masses or
peripheral perfusion organomegaly
• Palpation o Be gentle especially after feeds
o Femoral and brachial pulses for o Liver edge can be normally felt up
strength rhythm and volume to 2 cm below the right costal
o Assessment of perfusion through margin
capillary fill time o Tip of the spleen can be felt up to 1
o Position of cardiac apex cm and is normal
§ To exclude dextrocardia o Kidneys can be felt
o Palpation of liver to exclude § Note any abnormally large
hepatomegaly renal masses
§ May be present in congestive • You will find it easy to palpate an infant's
heart failure abdomen, because infants like being
o +/- thrill touched
o No babies should be discharged o Palpate the liver and spleen and
from the hospital until the femoral assess for hepatosplenomegaly
pulses have been documented to • Abnormal abdominal masses can be
be palpable associated with kidney, bladder, or
• Auscultation bowel tumors
o Presence of a murmur - systolic / • In pyloric stenosis, deep palpation in the
diastolic – loudness right upper quadrant or midline can
o Quality of heart sounds at the reveal an "olive," or a 2-cm firm pyloric
following 5 sites mass
§ Second intercostal spaces
adjacent to the sternum: left Genitalia and Rectum
(pulmonary area) Genitalia: Male
§ Second intercostal spaces • Inspect with the infant supine
adjacent to the sternum: right • Common scrotal masses are hydroceles
(aortic area) and inguinal hernias
§ Lower left sternal border in the • In 3% of infants, one or both testes
4th intercostal space (tricuspid cannot be felt in the scrotum or inguinal
area) canal
§ Apex (mitral area) • Try to milk the testes into the scrotum
§ Midscapulae (coarctation
area)

Musculoskeletal System Ankle Clonu

• Examine the extremities by inspection • (+) Severe CNS damage
and palpation to detect congenital
abnormalities, particularly in the hands, Blinking or Dazzle Reflex
spine, hips, legs, and feet • Disappears after 1st year
• Skin tags, remnants of digits, • (-) Blindness
polydactyly (extra fingers), or
syndactyly (webbed fingers) are Acoustic Blink Reflex or Cochleopalpebral
congenital defects • Disappearance time is variable.
• Fracture of the clavicle can occur in • Both eyes blink in response to a sharp
difficult delivery loud noise
• (-) Decreased hearing
Nervous System
• Evaluate the developing central Palmar Grasp Reflex
nervous system by assessing infantile • Disappears 3-4 months
automatisms, called primitive reflexes • Persistence (+) CNS damage
• Suspect a neurologic or developmental
abnormality if primitive reflexes are Rooting Reflex
absent at appropriate age, present • Disappears 3-4 months
longer than normal, asymmetric, or • (-) Indicate severe gen or centralized
associated with posturing or twitching nervous system dsse
• Neurologic and developmental
abnormalities often co-exist Trunk incurvation (Galant’s) Reflex
o Hypotonia can be a sign of a • Disappears at 2 months
variety of neurologic abnormalities • (-) in transverse spinal cord lesions
Babinski Reflex Trunk Incurvation (Galant’s) Reflex

• Sometimes up to 2 years old • Disappears at 4 months
• The plantar reflex • Fixed extension and adduction of the
o Negative Babinski reflex legs (scissoring) indicates spastic
o A curling of the toes, is seen in paraplegia or diplegia
healthy adults
• The Babinski sign Placing Response
o Positive Babinski reflex • Best after the first 4 days
o Occurs in the absence of • Disappearance is variable
descending inhibition
o It is normal in Infants, but Tonic Neck Reflex - “Fencer’s Reflex”
pathological in adults • Maybe present at birth, usually appears
at 2 months disappears at 6 months
o When elicited every time it is
evoked, it should be considered
abnormal
o Will persist in baby with major
cerebral damage

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LICEO DE CAGAYN UNIVERSITY

Maternal and Child Health Nursing

LESSON OUTLINE How Does it Occur?

Kathleen Velasco – BSN 2F 11

Kathleen Velasco – BSN 2F 12

• Amniotic Sac Genesis of Monozygotic Twins

Kathleen Velasco – BSN 2F 13

• If the division occurs after 8th day of Diagnosis

Kathleen Velasco – BSN 2F 14

Complications o Poor growth

Kathleen Velasco – BSN 2F 15

• Vanishing twin/abortion Intrapartum

o An assisted vaginal delivery is when

Kathleen Velasco – BSN 2F 16

o Assisted deliveries often happen Types of Fetus Positions

Kathleen Velasco – BSN 2F 17

• Breech - Breech • Breech- Transverse

What Causes a Baby to be Breech?

Kathleen Velasco – BSN 2F 18

• Your baby has a birth defect that

Kathleen Velasco – BSN 2F 19

LESSON OUTLINE o The uterine wall consists of three

Kathleen Velasco – BSN 2F 20

o Surgical management o Object embedded in a body

Trauma (Vascular and Soft Tissue Injury)

Kathleen Velasco – BSN 2F 21

• Causes Prevention and Treatment

Signs and Symptoms

Kathleen Velasco – BSN 2F 22

Non-Pneumatic Anti-Shock Garment Management of PPH

Manual Removal of the Placenta

Kathleen Velasco – BSN 2F 23

Kathleen Velasco – BSN 2F 24

Subtotal Hysterectomy How do you do a Uterine Tamponade

Equipments Used in Uterine Tamponade

How to Insert and Usage

Kathleen Velasco – BSN 2F 25

• In vaginal delivery, the balloon is Uterine Artery Embolization

Kathleen Velasco – BSN 2F 26

Kathleen Velasco – BSN 2F 27

LESSON OUTLINE • Who pioneered the concept of

Kathleen Velasco – BSN 2F 1

• April 07, 2004

Kathleen Velasco – BSN 2F 2

Section 5: Obligation to Inform Statics

Section 9: Licensing and Accreditation

Section 10: Lead Agency

Section 12: Establishment and Accreditation

Section 16: Newborn Screening Fees

NBS Screened Babies

Kathleen Velasco – BSN 2F 3

6 Common Disorders Detected by the NBS Classic MSUD

Kathleen Velasco – BSN 2F 4

Treatment Gene-Phenotype Relationship

Kathleen Velasco – BSN 2F 5

• Skull and Face Congenital Adrenal Hyperplasia

Kathleen Velasco – BSN 2F 6

Kathleen Velasco – BSN 2F 7

Kathleen Velasco – BSN 2F 8