SCREENING AND DIAGNOSTIC TEST

FOR CHROMOSOMAL DISORDERS

Common Screening and Diagnostic Test for
Chromosomal Disorders:
 DNA analysis or karyotyping
 First trimester nuchal translucency test and hormonal screening
 cfDNA testing
 Quadruple test analysis
 CVS
 Amniocentesis
 Percutaneous umbilical blood sampling (PUBS)
 Sonography
Common Screening and Diagnostic Test for
Chromosomal Disorders:

 DNA analysis or karyotyping is the name given to the

interpretation of genetic sequences, and can be used for
a wide variety of purposes.
Common Screening and Diagnostic Test for
Chromosomal Disorders:
Nuchal Translucency test
 Nuchal Translucency (NT) ultrasound is a diagnostic prenatal screening assessment
prescribed to detect chromosomal abnormalities associated with Down syndrome.
 It uses ultrasound to measure the thickness of the fluid buildup at the back of the developing
baby's neck. If this area is thicker than normal, it can be an early sign of Down syndrome,
trisomy 18, or heart problems.
 Nuchal translucency is the normal fluid-filled subcutaneous space identified at the back of
the fetal neck during the late first trimester and early second trimester (11 weeks 3 days to
13 weeks 6 days).
 best done at 12 weeks of pregnancy but can be done any time between 11 weeks and 2
days and 13 weeks and 6 days of pregnancy.
 An NT of less than 3.5mm is considered normal when your baby measures between 45mm
(1.8in) and 84mm (3.3in).
• Cell-free fetal DNA (cffDNA) is genetic material that is released by the placenta and
circulates in a woman's blood during pregnancy.

• CffDNA generally reflects the genetic makeup of the developing baby (fetus)

• Cell-free fetal DNA prenatal screening, called non-invasive prenatal screening (NIPS) by
some, detects defects in fetal DNA after it is purified from the pregnant woman's blood.

• can be performed as early as the tenth week of pregnancy for women.

Common Screening and Diagnostic Test for Chromosomal
Disorders:
Quadruple test analysis
 is a prenatal test that measures levels of four substances in pregnant
women's blood:
• Alpha-fetoprotein (AFP), a protein made by the developing baby
• Human chorionic gonadotropin (HCG), a hormone made by the placenta
• Estriol, a hormone made by the placenta and the baby's liver
• Inhibin A, another hormone made by the placenta
 blood sample thru a venipuncture
 results: positive (meaning that there are higher chances that your baby could
have one of these conditions), it doesn’t necessarily mean that your baby will be
affected. It just means that the chances are higher.
• Higher than normal AFP levels could mean that your baby has an open
neural tube defect such as spina bifida or anencephaly.
(alphafeto protein)
• Lower than normal AFP, hCG, and inhibin A levels could mean that you have
higher chances of having a baby with Down syndrome or trisomy 18.

• Lower than normal levels of estriol may also mean that you have higher
chances of having a baby with Down syndrome or trisomy 18.
AFP (alphafetoprotein)
 is a substance produced by the fetal liver that can be
found in both amniotic fluid and maternal serum.
 level is abnormally high if the fetus has an open spinal or
abdominal wall defect.
 level is low - if the fetus has a chromosomal defect
Common Screening and Diagnostic Test for Chromosomal
Disorders:

CVS
 Chorionic villus sampling (CVS) is a prenatal test that is used to detect birth
defects, genetic diseases, and other problems during pregnancy.

 The transcervical procedure is performed by inserting a thin plastic tube

through the vagina and cervix to reach the placenta.

 During the test, a small sample of cells (called chorionic villi) is taken from
the placenta where it attaches to the wall of the uterus.
Common Screening and Diagnostic Test for Chromosomal
Disorders:
Amniocentesis
 Amniocentesis is a medical procedure used primarily in prenatal diagnosis of chromosomal
abnormalities and fetal infections as well as for sex determination.

 In this procedure, a small amount of amniotic fluid, which contains fetal tissues, is sampled
from the amniotic sac surrounding a developing fetus.
Percutaneous umbilical blood sampling (PUBS)
 Cordocentesis, also known as percutaneous umbilical blood sampling, is a
diagnostic prenatal test.

 During cordocentesis, an ultrasound transducer is used to show the position

of the fetus and umbilical cord on a monitor.

 Then a fetal blood sample is withdrawn from the umbilical cord for testing.

 Percutaneous umbilical blood sampling usually is done after the 18th week of
pregnancy
Sonography
 In ultrasonography, or ultrasound, high-frequency sound waves, inaudible to the
human ear, are transmitted through body tissues. The echoes are recorded and
transformed into video or photographic images.
Uses:
 diagnose pregnancy as early as 6 weeks
 confirm the presence, size, and location of the placenta and amniotic fluid
 established a fetus is growing and has no gross anomalies such as hydrocephalus,
anencephaly; or spinal cord, heart disease, and bladder concerns
 established fetal gender
 establish fetal presentation and position
 predict gestational age
 discover complications of pregnancies: hydramios or oligohydramios, ectopic
pregnancy, missed abortion, placenta previa, premature separation of placenta,
coexisting uterine tumors, or multiple pregnancy; genetic disorders, fetal anomalies,
END