This type of congenital anomaly screening takes out a blood sample from the mother to assess the probability of such abnormalities. In addition that, it can also detect some sex chromosome abnormalities.
Second Trimester Maternal Serum Testing (2TMSS)
This single blood test is performed between 14 and 20 weeks of pregnancy. It helps in estimating the chances of having chromosomal anomalies and neural tube defects.
Ultrasound
An ultrasound produces images of the baby. The first-trimester ultrasound screen looks for extra fluid behind the baby’s neck, a procedure known as the nuchal translucency scan. If the ultrasound reveals an increase in fluid, the baby may have a chromosomal disorder or a heart defect.
Amniocentesis
This is a congenital anomaly screening test that collects a small portion of the amniotic fluid from the area surrounding the baby. The fluid goes through laboratory analysis to determine the protein levels in the baby, which indicates some birth defects.
Chorionic Villus Sampling (CVS)
This refers to a test wherein the doctor takes out a small sample of the placenta (chorionic villus).
Doctors usually offer this form of congenital anomaly screening to women who had an abnormal CFTS result. Those who have greater risks may also go through CVS. Such risks include being 35 years or older by the baby’s due date, having a family history or known genetic disease, possible exposure to teratogens (e.g. radiation, alcohol, certain drugs), and a history of abnormal ultrasound findings.
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