Common tests for

determination of
genetic abnormalities
Question

– The normal human karyotypes contain ?? pairs

of autosomal chromosomes and __ pair of sex
chromosomes (allosomes).

– XX is ?? and XY is ??
Trisomy 21caused by the
presence of all or part of a
third copy of chromosome
21
Klinefelter Syndrome

Klinefelter syndrome, the most

common male chromosomal
disease, otherwise known as
47,XXY, is caused by an extra X
chromosome.

*primary features are infertility and

small poorly functioning testicles
Turner syndrome results from a single X
chromosome (45,X or 45,X0).

Often, a short and webbed neck, low-set ears,

low hairline at the back of the neck, short
stature, and swollen hands and feet are seen
at birth
others:
– Edwards syndrome (trisomy 18). A baby has an
extra 18th chromosome. These babies usually
have many problems, and most don’t live longer
than a year.
– Patau syndrome (trisomy 13). A baby has an
extra 13th chromosome. These babies usually
have heart problems and severe mental
impairment. Most won’t live more than a year.
– Alpha-fetoprotein
– a glycoprotein
– produced by the fetal liver.
– ↑ level of alpha-fetoprotein present
in amniotic fluid (AFAFP) or
maternal serum (MSAFP)
– Abnormally high in a spinal cord
disorder or abdominal wall
defect
– open neural tube defects
–Spina bifida, anencephaly.
 Alpha-fetoprotein

– Alpha-fetoprotein testing measures the

quantity of fetal serum protein.
– Significant ↓
– chromosomal defects such as Down’s
Syndrome.

– 15-18 weeks of gestation.

 Is retrieval and analysis of
chorionic villi for
chromosome analysis.
 Tissue of fetal origin

◦ Use to obtain samples of

chorionic villi to test for
genetic disorder in the
fetus.
 commonly done at 8 to 10
weeks (10-12 weeks)
◦ may be done as early as 5th
week of pregnancy
Chorionic Villi Sampling

– Chorion cells are located

by ultrasound.
– A thin catheter is inserted
vaginally or a biopsy
needle is inserted
abdominally or
intravaginally, and a
number of chorionic cells
are removed for analysis.
Chorionic Villi Sampling
 Following CVS, women need
to be instructed to report
chills and fever suggestive
of infection or symptoms of
threatened abortion
(uterine contraction and
vaginal bleeding)
 The cells removed by CVS
are karyotyped or submitted
for DNA analysis.
– Aspiration of about 20ml
of amniotic fluid from the
pregnant uterus through
the abdominal wall
– Done at 15-18th week
– determine genetic
disorder, sex, and fetal
maturity.
  Preparation:
Amniocentesis ◦ ask the woman to void
◦ place her in supine position on
the examining table, draping
appropriately, exposing only
her abdomen.
◦ Place a folded towel under her
right buttock to tip her body
slightly to the left and move
the uterus off the vena cava to
prevent supine hypotension
syndrome.
◦ Attach fetal heart rate and
uterine contraction monitor.
◦ Take the maternal blood
pressure and the fetal heart
rate for baseline levels.
Advantage over CVS

– only a 0.5% risk of spontaneous abortion

occurring from the procedure.
–Women need to be observed for about 30
minutes afterward to be certain that labor
contractions are not beginning and fetal heart rate
remains within normal limits.
–It can lead to complication:
– hemorrhage from penetration of the placenta
– infection of the amniotic fluid
– puncture of the fetus
Amniocentesis
– Explain that a sonogram will be done
to determine:
– position of the fetus
– a pocket of amniotic fluid and the placenta
– Abdomen will be washed with an
antiseptic solution and a local
anesthetic will be given.
– Warn the client that she may feel a
sensation of pressure as the needle is
introduced.
Amniocentesis
– Do not suggest to take a deep
breath and hold it as a
distraction against discomfort.
– This lowers the diaphragm
against the uterus and shifts
intrauterine contents.
a. Color
– color of water -normal amniotic fluid
– Late in pregnancy is slightly yellow tinge
– A strong yellow color
– suggests blood incompatibility.
– A green color
– suggests meconium staining
– associated with fetal distress.
b. Lecithin /
Sphingomyelin ratio
- by shake test – if bubbles appear
after shaking the ratio is mature
– They are protein component of the
lung enzyme surfactant that alveoli
begin to form about 22nd to 24th
week of pregnancy
– Normal ratio is 2:1 or greater which
signifies lung maturity
– Diabetic – 2.5: 1 or 3:1 is mature
c. Bilirubin Determination
Normal findings:
– Specimen must free of blood or
false- positive reading will occur.
–The presence of bilirubin may be
analyzed if a blood incompatibility
is suspected
d. Chromosome Analysis
– A few fetal skin cells are always
present in amniotic fluid.
– This cell may be cultured and
stained for karyotyping for genetic
analysis.
– Chromosomal study of fetal
tissues should be free of diseases.
e. Inborn Error of Metabolism

– Inherited diseases caused by in born error of

metabolism
– The enzyme defect must be present in amniotic fluid
as early as 14-16th weeks to have a diagnosis
– An example of illnesses that can be detected:
– cystinosis (metabolic disorder)
– maple syrup urine disease (amino acid disorders).
– Sickle cell disease, cystic fibrosis, muscular dystropy
 Percutaneous
Umbilical Blood
Sampling

• also known cordocentesis

or funicentesis
•the removal of blood from
the umbilical cord using an
amniocentesis technique
•Done at 17 weeks
•Invasive, risk of
miscarriage
•Diagnostic for fetal
karyotype and fetal blood
diseases
 Percutaneous
Umbilical Blood
Sampling

• A sample blood is remove

for blood studies such as
CBC, direct Coomb’s test,
blood gases and
karyotyping.
•Fetal heart rate and uterine
contractions need to be
monitored before and after
the procedure.
• can yield information about
blood dyscracias
Sonography

a diagnostic tool that is

helpful in assessing a fetus
for general size and
structural disorders of the
internal organs, spine, and
limbs
what for??
 Diagnose pregnancy as early as 6 weeks
gestation
 Establish presentation and position of the fetus
 Predict gestational age, sex
 Discover complication of pregnancy and genetic
disorders
 Detect fetal death
 Detect retained placenta or poor uterine
involution after birth
 Detect gross anomalies such as hydrocephalus,
anenchephaly, kidney concern.
 Don't forget to:

Explain the procedure

Ask patient to drink a full glass of water every 15
minutes beginning 90 minutes before the
procedure
Ensure full bladder
Instructed the patient not to void until after the
procedure
Assist the patient on the examining table and
drape exposing the abdomen
 Sonography

Place towel under right buttock to tip the

body slightly so the uterus will roll away
from the vena cava, thus will prevent
SUPINE HYPOTENSION SYNDROME
Note: UTZ can be performed using
intravaginal technique, but this is not
necessary for routine testing
Fetoscopy
insertion of fiberoptic
fetoscope through a
small incision in the
mother’s abdomen
into the uterus and
membranes to
inspect the fetus for
gross abnormalities
Remember : Visualization

- Long tube with a camera on one

end, inserted thru a small
abdominal incision
- Can be performed
approximately 16th -17th week
Fetoscopy can be
used on the ff:

To confirm the intactness of

the spinal column
To obtain biopsy sample
To determine meconium
staining
To perform elemental surgery
such as insertion of shunt to
relieve hydrocephalus
 Health maintenance

URINALYSIS Blood Serum Studies

 CBC (Complete
– Use clean-catch urine Blood Count)
– Test for proteinuria, -hemoglobin,
hematocrit for
glycosuria and pyuria anemia,
-white blood cell for
– Done by means of test infection
strips and microscopic -platelet count to
examination of the estimate clotting
urine. ability
 Health maintenance

Blood Serum Studies  Blood typing and

 Serologic test for Rh factor
Syphilis (VDRL or
Venereal Disease
- to detect ABO and
Research Laboratory) Rh incompatibility
- if syphilis is present - blood must be
must be treated early available in case
before fetal damage bleeding occur
occur
 Health maintenance
 Culture for chlamydia and
gonorrhea
- should be collected at initial pelvic
examination
- often asymptomatic infections
- patient is treated with antibiotic
- test for repeat culture at 35 and
37 weeks
- all patient 25 years and under
must repeat the test at 35 and 37
weeks
 Serum antibody titer for:
 Rubella (CRS, miscarriage)
 Hepa B (HBsAg) – can be
repeated at about 36 weeks
 Hepa C
 Varicella (chicken pox)
(FVS)
Note: Vaccines for those
diseases can be offered in
the post partum period
 Health maintenance

 HIV screening  50-g oral 1-hr glucose loading

- should be done in early or tolerance test (glucose
challenge test)
pregnancy
Done if a patient has the ff:
- high risk should be retested in
the - history if unexplained fetal
3rd trimester loss
- ELISA (enzyme-linked - family history of diabetes
immunosorbent assay)- - babies were LGA (9lbs or
screening
more at term)
test
- BMI over 30
- Western Blot a confirmatory
test - with glycosuria
once ELISA is positive
 Health maintenance

 50-g oral 1-hr glucose loading  Glycosylated hemoglobin

or tolerance test (glucose (HgA1C)
challenge test) - measure of the amount of
sugar attached to hgb
- done at 12 weeks to r/o
- reflects the average blood
gestational diabetes
glucose over the past 4 to 6
- this test will analyze how well
weeks
the woman’s body is able to
Note: if not high risk the
process sugar
patient should have the test
Note: normally a plasma glucose routinely at 24 to 28th weeks
should not exceed 130- of pregnancy (GCT and
140mg/dl at 1 hour after GCT HgA1C)
 Health maintenance

Pregnancy test
Urine or blood serum
– presence of HCG from
the 40th day of pregnancy
through the 100th day,
peak level on the 12
weeks
Home pregnancy test
– 97%, degree of accuracy
– Convenient for women
this is the glucose solution used in OGTT:
Tuberculosis Screening

– Mantoux Test
– PPD /tuberculin test
– 0.1 of tuberculin units are injected
by a needle and syringe
intradermally
– If induration area is at least 10 cm in
diameter, the test is considered
positive.
Types of Pelvimetry

– Clinical Pelvimetry – Imaging pelvimetry

Pelvic inlet X ray
Mid cavity Computerized
Pelvic outlet Tomography (CT)
-External Pelvimetry MRI
Pelvic inlet
pelvic outlet
Internal pelvimetry

– Through vaginal examination

– At first prenatal visit screen
for obvious contractions
– In late pregnancy (after 37
weeks)
more accurate
less uncomfortable
Radiological Pelvimetry

– Xray – MRI (mehod of Choice):

Limited Value, no role in Lack of ionizing radiation,
guiding management higher resolution and
- CT: contrast but also higher
cost.
Ease of performance,
interpretation, & 100%
less radiation exposure to
the fetus
Can evaluate fetal lie and
position
Cephalometry

– Ultrasonography : is safe, accurate and easy

method and can detect:
The biparietal diameter (BPD)
The occipito-frontal diameter
The circumference of the head

https://www.youtube.com/watch?v=XyIuYqAVaHI
-JLB