Birth Defect

1
Birth defect
For 3rd year

midwifery
students
Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

Objectives
2
At the end of this session students will be able to:-
Define what does mean birth defect
List diagnostic mechanism of birth defect
Identify the etiology/risk factors of birth defect.
Describe common birth defect on each system

Birth defect/ Congenital abnormality
3
 Birth defects/ A congenital abnormality are defined as

abnormalities of physical, structure, function, or body
metabolism that are present at birth.
 It is a condition existing at or before birth regardless of
cause.

Birth defect…
4
 Malformation is due to intrinsic organ abnormality

since the time of embryogenesis. This can either be the
cause of genetic factors or environmental.
Ex;-meningomyelocele/myelomengocele.
 Disruption is injury to an already formed organ. This
can be caused by vascular occlusion, teratogen or
rupture of amniotic sac( amniotic bond syndrome).
Birth defect…
5
 Deformation is an abnormality shaped organ due to

external pressure. Example:- club feet in a woman with
oligohydramnios, fibroid tumors or multiple gestation.
 Malformation sequence:-pattern of multiple defect
resulting from single primary malformation.
(E.g Talipes and hydrocephalus can result from a
lumbar neural tube defect.)

Diagnosis mechanism
6
 Three methods of testing for congenital defects are

ultrasound, chorionic villi sampling, and
amniocentesis.
Amniocentesis
Ultrasound Chorionic villi sampling

Etiologies of congenital abnormalities
7
 Chromosomal abnormality
 Single gene defect
 Maternal illness(DM, Epilepsy)
 Multifactorial diseases
 Teratogens(Any substance that causes birth defects is known
as a teratogen)
 Idiopathic
 Irradiation
 is a potential danger to the fetus especially in early
embryonic phase.
 It is safer to limit its use especially during first trimeste
8 Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023
1. Gastrointestinal malformation
9
These include
1. Gastroschisis
2. Omphalocele
3. Atresias

Gastroschisis
10
 Gastroschisis is an abdominal-wall
defect that occurs on the side of the
umbilical cord (umbilicus).
 The baby is born with intestines
protruding through this defect, and
no protective sac is present.
 Gastroschisis is a life-threatening
defect, requiring immediate
intervention.
Omphalocele
11
 It is a defect in which the bowel

or other viscera protrude through
the umbilicus.
 Omphalocele is a weakness of the
baby‘s abdominal wall where the
umbilical cord joins.
 This weakness allows the
abdominal contents, mainly the
bowel and the liver to protrude
outside the abdominal cavity
where they are contained in a
loose sac that surrounds the
umbilical cord.Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023
Omphalocele…
12

Omphalocele…
13
Management
 Every effort should be made to
protect the membranes from rupture.
 Cesarean delivery may prevent
rupture of this sac.
 A moist sterile saline dressing
should be applied.
 Arrangement is made for immediate
surgical closure (give preoperative
broad antibiotic).

Atresia
14
 It may be defined as a congenital absence or abnormal

narrowing of a body opening.
 It can affect different sites in the GI tract.
 Oesophageal
 Duodenal
 Small bowel
 Colonic
 Anorectal(imperforate anus)
Imperforate anus
15
 Imperforate anus is a
congenital defect in which the
opening to the anus is missing
or blocked.
 It is more prevalent in males
than females.
 Imperforate anus is a
relatively common condition
that occurs in about 1 out of
5,000 infants.

Imperforate anus…
16
Dox / Symptoms
 No passage of first stool
within 24 to 48 hours after
birth.
 Abdominal swelling, or
distention.
 Failure to pass a rectal
thermometer rubber catheter.
Mgx: Surgical reconstruction of
the anus.
Esophageal atresia
17
 A birth defect in which part of a

baby's esophagus (the tube that
connects the mouth to the
stomach) does not develop
properly
 Excessive salivation, increasing
respiratory distress and even a
small amount of fluid by mouth
causing cough and cyanosis point
strongly towards the entity.

Type of Esophageal Atresia
18
 Type A is when the upper and lower parts of the

esophagus do not connect and have closed ends.
 Type B is very rare. In this type the upper part of the
esophagus is attached to the trachea, but the lower part
of the esophagus has a closed end.

Type of Esophageal Atresia…
19
 Type C is the most common type. In this type the

upper part of the esophagus has a closed end and the
lower part of the esophagus is attached to the trachea.
 Type D is the rarest and most severe. In this type the
upper and lower parts of the esophagus are connected
separately to the trachea.

Cont…
20
 Diagnosis is made by failure

to pass a nasogastric tube
down through the esophagus.
 The baby first tries to feed
and has choking or vomiting,
 Confirmation is done by
radiography

Esophageal Atresia…
21
Management
 Withhold fluids by mouth
 Frequent suctioning to prevent aspiration
 Place the baby in relatively upright position (45°) to prevent
reflux.
 Broad spectrum antibiotic should be administered,
 Ligation of tracheoesophageal fistula

Duodenal atresia
22
 In atresia, the lumen is completely

obstructed whereas in stenosis, it
is narrowed.
 It is usually common in babies
born of mothers with hydramnios,
with IUGR.
 The 70% of cases have other
malformation (cardiac,GI)
Duodenal atresia…
23
 Diagnosis  Management
 Plain X-ray of the  Withhold fluids by
abdomen or USG in mouth
upright position shows the  Parenteral replacement
typical ‘double bubble of fluids and electrolytes
appearance’—gas.  Prompt corrective
 Prenatal diagnosis is made surgery
with ultrasound
Cleft Lip and Cleft palate
24
CLEFT LIP
 The congenital deformity of a cleft in the upper lip, on one or
both sides of the midline.
CLEFT PALATE
 A fissure in the midline of the palate due to failure of the two
sides to fuse in embryonic development.
 It may be accompanied by a cleft lip and disturbance of tooth
formation.
Cleft Lip Vs. Cleft palate
25

Treatment
26
 Babies with isolated cleft lip can feed normally.
 Cleft palate is associated with feeding difficulties.
 Feed using expressed breast milk via a cup and spoon.
 Surgical closure of the lip is performed at 3 months of age
and palate is performed around 1 year of age.

2. Abnormality related to respiration
27
1. Diaphragmatic Hernia
2. Choanal Atresia
3. Laryngeal Stridor

Diaphragmatic hernia
28
 A diaphragmatic hernia is a birth

defect in which there is an abnormal
opening in the diaphragm, the
muscle that helps you breath.
 The opening allows part of the
organs from the Belly (stomach,
spleen, liver, and intestines) to go up
into the chest cavity near the lungs.
Diaphragmatic hernia…
29
 Diaphragmatic hernia is
caused by the improper joining
of structures during fetal
development.
 The lung tissue on the affected
side is thus not allowed to
completely develop.
 Most affect the left side.
3.Congenital cardiac defect
30
 A congenital heart defect is a problem with the structure of

the heart.
 Congenital heart defects are the most common type of major
birth defect.
 These defects can involve the walls of the heart, the valves
of the heart and the arteries and veins near the heart.
 Congenital heart defects can disrupt the normal flow of
blood through the heart.
Congenital cardiac defect….
31
 Ventricular septal defect (most common)

 Persistence ducts arteriosus
 Atrial septal defect

Persistence ducts arterouses
32
 Failure of closure of ductus arteriosus

 Mostly common in premature infants or
infants born to a mother who had rubella
during the first trimester of pregnancy
 Through the PDA oxygenated blood
passes from the aorta to the pulmonary
artery & mixes with the deoxygenated
blood which goes to the lungs
 pulmonary hypertension & congestion
Persistence ducts arterouses…
33
Management
 Medical Management
•Indomethacin IV (prostaglandin
inhibitor) may help close a PDA.
 Surgical repair is usually
indicated in infants younger than
6 months of age who have large
defects Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023
Atrial septal defect
34
 An abnormal opening in the atrial septum

which allows oxygenated blood from the
left atrium to mix with deoxygenated blood
in the right atrium at a minor pressure
difference
 Right atrium recieves blood from SVC,IVC
as well as from left atrium leading to
volume overload and pulmonary congestion
 Occurs in about 4-10% of CHD
 More common in female child
Atrial septal defect
35
Clinical Presentation
 Most infants and children are
asymptomatic
 Infant gets tired during feeding
 Child gets tired with
playing/eating
 Shortness of breath
 Fatigue
 Sweating
 Palpitations
 Stunted growth

Management
36
 20% of atrial septal defects will close spontaneously in

the first year of life or as the child grows
 For defects of 3-8mm, or smaller, supportive medical
management – Digoxin, diuretics and prophylactic
antibiotics are sufficient up till spontaneous closure.
 If defect is >8mm, surgical repair may be is required

Ventricular Septal Defect (VSD)
37
 An abnormal opening in the ventricular septum

which allows oxygenated blood from the left
ventricle to mix with deoxygenated blood in the right
ventricle
 Right ventricle recieves blood from right atrium as
well as from left ventricle leading to volume
overload and pulmonary congestion
 VSDs are the most commonly occurring type of
Ventricular Septal Defect….
38
Management
 Medical management:-
digoxin, Diuretics
 Prophylactic antibiotics
to prevent bacterial
endocarditis
 Surgical repair

4. Central nerves system abnormality
39
 CNS congenital anomalies are birth defects of the physical

structure of the brain or spinal cord that develop in utero, or
when a fetus is developing during pregnancy.
 The abnormalities include:
 Anencephaly
 Spina bifida
 Hydrocephalus

Anencephaly
40
 Anencephaly is a serious birth defect

in which a baby is born without parts
of the brain and skull.
 It is a type of neural tube defect
(NTD).
 Is the absence of a major portion of
the brain, skull, and scalp that occurs
during embryonic development.
Anencephaly…
41
 There is no cure or standard

treatment for anencephaly.
 Prognosis is extremely poor,
as many anencephalic fetuses
do not survive
 Infants that are not stillborn
will usually die within a few
hours or days after birth from
cardiorespiratory arrest.

Spina Bifida
42
 Is a birth defect in which there is

incomplete closing of the spine and
the membranes around the spinal cord
during early development in
pregnancy.
 There are three main types:
1. Spina bifida occulta,
2. Meningocele and
3. Myelomeningocele
Spina Bifida…
43
1. Spina bifida occulta is the mildest type of

spina bifida. It is sometimes called “hidden”
spina bifida. With it, there is a small gap in the
spine, but no opening or sac on the back. The
spinal cord and the nerves usually are normal.
2. Meningocele is a sac that pushes through the
gap in the spine. But, the spinal cord is not in
this sac. There is usually little or no nerve
damage. This type of spina bifida can cause
minor disabilities
3. Myelomeningocele is the most serious type of
spina bifida. With this condition, a sac of fluid
comes through an opening in the baby’s back.
Part of the spinal cord and nerves are in this sac
and are damaged. Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023
Spina Bifida…
44
 Treatment
 Diagnosis
 Apply a sterile dressing
 A sac containing meninges and
a malformed spinal cord that
 If ruptured, give benzyl
penicillin (IV 50,000
protrudes through defective
units/kg four times a day) or
vertebrae.
 Ampicillin (25–50 mg/kg IV
 The most common site is the
four times a day) plus
lumbar region
gentamicin (7.5 mg/kg once
 Maternal oral folic acid
per day) for 10-14 days.
supplementation prior to  Surgical re-correction of the
conception reduce
defect.
myelomenigocele by 50% to
70%. Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023
Long term effect
45
 The long term effects are;

 loss of sensation
 Paralysis
 mental retardation
 permanent loss of bowel and bladder control
 seizures and weakness

Hydrocephalus
46
 Hydrocephalus is an abnormal
buildup of excess cerebrospinal fluid
(CSF) in the ventricles (cavities) deep
within the brain.
 This excess fluid causes the ventricles
to widen, putting pressure on the
brain's tissues.
 Cerebrospinal fluid (CSF) is the clear,
colorless fluid that protects and
cushions the brain and spine

5. Musculoskeletal deformity
47
Polydactyl
 Extra fingers or toes (digits)
that are present at birth
 Medically , too many fingers.
Oligodactyl
 Too few fingers or toes.

Musculoskeletal deformity…
48
Syndactyly
 A condition in which
fingers or toes are partially
joined together.
 Syndactyly can involve the
bones or just the skin.

Club foot
49
 The foot cannot be placed into

the normal position.
 The commonest form is
congenital form and accounts for
75% of case.
 In 50 % of cases it occurs
bilaterally.

Treatment
50
 Non operative:
 Serial plaster casts beginning shortly after
birth by manipulating the foot towards the
correct position.
 Special splints may need to be worn until
the child begins to walk
 Operative:
 If cast fails, surgery is indicated at 6-12
months of age.
 If child presents beyond 3 months of age
Treatment…
51

Genitourinary system birth defect
52
Epispadias
 Abnormal urethral opening on the
dorsal(upper)aspect of penis.
 Due to abnormal development of the
infraumbilical wall and upper wall
of urethra.
 Rare in females
 Classification : anterior epispadias
posterior epispadias
hypospadias
53
 It is the congenital abnormal

urethral opening on the
ventral aspect( under
surface ) of the penis.
 Common in male children.

Cont...
54
 Problems related to hypospadias :

1. Painful downward curvature of penis
2. Deflected stream of urine
3. Inability void urine while standing
Management
 surgical reconstruction

Phimosis
55
 Phimosis is a condition of the

foreskin can't be pulled back
(retracted).
 a congenital narrowing of the
opening of the foreskin so that it
cannot be retracted.
 It occurs in some adults and
children who aren't circumcised.
Phimosis…
56
Management
 Circumcision

Undescended testis
57
 Testis cannot be made to reach

the bottom of the scrotum
 It is also known as
Cryptochordism
 5% of full term male infants
may have unilateral or bilateral
testis.
Diagnosis
58
 USG
 Laproscopy
 MRI
Complications :-Trauma,
malignant and psychological
trauma
Management
 Orcheopexy(surgical repair)

Chromosomal abnormality
59
DOWN’S SYNDROME (TRISOMY 21)

 Trisomy 21 is the most frequent autosomal
(chromosomal) syndrome.
 The defect is due to: inclusion of an additional
chromosome, trisomy 21 (95%)—47 instead of 46
chromosomes.
 Is a condition in which a child is born with an extra copy
of their 21st chromosome
General appearance
60
 Craniofacial abnormalities include

small ears,
 Short upper lip with small mouth
 Macroglossia (Large and
protruding tongue)
 The hands are short
 The affected baby is mentally
retarded.
General appearance….
61
 Short neck
 Misshaped ears
 Excess flexibility in joints
 Heart defects
 Sight and hearing problems
 Excessive space between large and second toe
 Muscle hypotonia (low muscle tone)
 Flat facial features
General appearance….
62
 Expectation of life is reduced.
 Male infertility is the rule.
 In female puberty may be delayed and may be fertile.
 Confirmation is established by chromosomal analysis
(karyotype) using bone marrow aspiration or leukocyte culture.

Congenital Anomalies of the female Reproductive
organ
63
 Common Reason
 Improper fusion of the
paramesonephric ducts.
 Incomplete development of
one paramesonephric duct.
 Failure of part of the
paramesonephric duct on
one or both sides to develop.
 Absent or incomplete
canalization of the vaginal
plate.

organ…
64
Classificatio
n

organ…
65

Imperforate hymen
66
• The mildest form of the

canalization abnormalities.
It occurs at the site where
the vaginal plate contacts
the urogenital sinus.
--Blood accumulate in the
vagina (hydrocolpos) or
uterus (hydrometrocolpos)
and result in a bulging
hymen that is often bluish in
color
Clinical Manifestation
67
 A history of vague
abdominal pain with
approximately monthly
exacerbations
 No menstruation

Diagnosis
68
Physical Examination
 A bulging hymen that is
often bluish in color

 A palpable cystic mass
compressing rectum by anal
examination.
Auxiliary Examination
B-mode ultrasonic
examination ：
hydrocolpos or
hydrometrocolpos
Treatment
69
 Paracentesis to confirm the

diagnosis.
 Making a cruciate incision to
open the vaginal orifice,
excising the redundant hymen,
and suturing the hymen with
absorbable materials.
 Examining the cervix
regularlly.

II VAGINA CONGENITAL ABNORMALITIES
70

Congenital absence of vagina
71
 The incidence is estimated

to be 1 in 4000-10000 live-
born girls.
 Clinical manifestation
 Primary amenorrhea
 Difficulty in sexual activity
 Most patients have
primordial uterus, no
periodic abdominalgia.

Congenital absence of vagina…
72
Diagnosis
 Physical Examination
 Normal secondary sexual characteristics
 B-mode ultrasound: the presence of rudimentary uterus
without functional endometrium on the both side of the
pelvis and intact bilateral adnexae.
 Karyotype ： 46 ， XX
 Hormonal analyses: within the normal ranges
Treatment
 Vaginal dilation treatment
 Surgical vaginoplasty
Atresia of Vagina
73
Lack the lower portion of the

vagina.
 the urogenital sinus does not
participate in the formation of the
vagina.
Clinical Manifestation
 The same symptom with
imperforate hymen.
 cyclic lower abdominal pain,
amenorrhea

Atresia of Vagina…
74
Diagnosis
Physical Examination
 A palpable cystic mass compressing rectum by anal examination, but
the location of the mass is higher than that in imperforate hymen.
 No bluish bulging hymen
Auxiliary Examination
 B-mode ultrasonic examination ： hydrocolpos or hydrometrocolpos
 MRI
Treatment
 Early surgery
 Vaginal dilation with vaginal mould post surgery
Transverse Vaginal Septum
75
 Failure of vertical fusion

( complete cavitation of the vaginal
plate between the sinovaginal
bulbs and uterovaginal canal).
 More common in the upper
portion, that is, at the junction
between the sinovaginal plate and
the caudal end of the fused
müllerian ducts
 The septum may be obstructive,
with accumulation of mucus or
menstrual blood, or may be non-
obstructive, allowing for egress of
mucus and blood.
Transverse Vaginal Septum…
76
 Clinical Manifestation
 Obstructive transverse vaginal
septum
 -- usually present during adolescence
with cyclic lower abdominal pain,
amenorrhea, and gradual
development of a central pelvic
mass.
 Nonobstructive transverse vaginal
septum
 -- complain of abnormal menstrual
flow, pain with intercourse, difficulty
in placing or removing tampons, or
77
Diagnosis
 The diagnosis is suspected when an
abdominal or pelvic mass is

palpated or when a foreshortened
vagina and inability to identify the
cervix is encountered.
 Diagnosis is confirmed by either
sonography or magnetic resonance

(MR) imaging. Magnetic resonance
imaging is most helpful prior to
surgery to determine the thickness
and depth of the transverse septum.
78
Treatment
Surgical repair is dependent upon septal thickness.
Skin grafts may occasionally be necessary to cover a
defect left by excision of very thick septa.
Smaller septa may be approached by excision with an
end-to-end anastomosis of the upper to the lower
vagina.

Question
79

References
80
1. The developing human clinical oriented embryology, 8th

edition
2. Lippincott Williams and Wilkins atlas of anatomy
3. LAGMAN’S Medical embryology, 11th edition
4. Board Review Series(SRS) Embryology fifth Edition.
5. DC, Dutta, text book of obstetrics, 2015, eight editions
6. Gabbe, Obstetrics: Normal and Problem Pregnancies,

Seventh Edition, 2017

Birth Defect

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1

For 3rd year

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

At the end of this session students will be able to:-

Define what does mean birth defect

List diagnostic mechanism of birth defect

Identify the etiology/risk factors of birth defect.

Describe common birth defect on each system

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 Birth defects/ A congenital abnormality are defined as

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 Malformation is due to intrinsic organ abnormality

 Deformation is an abnormality shaped organ due to

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 Three methods of testing for congenital defects are

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 It is a defect in which the bowel

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 It may be defined as a congenital absence or abnormal

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 A birth defect in which part of a

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 Type A is when the upper and lower parts of the

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 Type C is the most common type. In this type the

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 Diagnosis is made by failure

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 In atresia, the lumen is completely

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 Babies with isolated cleft lip can feed normally.

 Cleft palate is associated with feeding difficulties.

 Feed using expressed breast milk via a cup and spoon.

 Surgical closure of the lip is performed at 3 months of age

and palate is performed around 1 year of age.

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 A diaphragmatic hernia is a birth

 A congenital heart defect is a problem with the structure of

 Ventricular septal defect (most common)

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 Failure of closure of ductus arteriosus

 An abnormal opening in the atrial septum

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 20% of atrial septal defects will close spontaneously in

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 An abnormal opening in the ventricular septum

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 CNS congenital anomalies are birth defects of the physical

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 Anencephaly is a serious birth defect

 There is no cure or standard

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

 Is a birth defect in which there is

1. Spina bifida occulta is the mildest type of

 The long term effects are;

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

Aynalem Y Y(BSc, MSc, Ass.t professor) 10/07/2023

that are present at birth