Maternity Care

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Screening For Birth Defect

Prenatal care is important to the health of both the mother & the baby. Proper screenings & examination during each trimester provide the mother with invaluable information regarding the baby’s development various screening & diagnostic options are available to assess specific risks and evaluate the development of your baby.

Test Available

As early as 9 – 10 weeks / Non – Invasive Prenatal testing

Non-invasive prenatal testing uses cell free DNA collected from the expectant mothers blood. This test is recommended for patient at high risk for aneuploidy. Detection rate is 99% for Downsyndrome. This test is costly. Also because it detects gender it is legally banned in many parts of India.

10-13 Weeks / chorionic Villi Sampling (CVS)

A simple diagnostic test in which a sample of chorionic villi is removed from the developing placenta. This test can reveal if growing foetus has evidence of aneuploidy.

11-13 Weeks / Nuchal Translucency (NT)

A minimal invasive screening test performed as early as 11 weeks of pregnancy in which a hormonal assessment is performed in combination with an ultrasound designed to look at clear space in tissue at the back of the baby’s growing neck called nuchal translucency. In certain cases fluid may collect in this spaces making it appear larger on USG or the laboratory test may demonstrate abnormal value suggesting an increase risk for aneuploidy cardiac defect, or other genetic syndrome.

15 – 20 Weeks / Quadruple Markers.

A screening test performed between 15 & 20 weeks of pregnancy that measure the levels of alpha – fetoprotein HCG estriol and inhibrim A in mothers blood. Abnormal values are associated with chromosomal abnormalities and other complication such as neural tube defects.


It is generally performed after 15 weeks of pregnancy by inserting a small needle through the mother’s abdomen into aminiotic Soc. A small amount of fluid is collected. Analysis of this fluid contains actual cell of baby and can offer information regarding potential chromosomal abnormality, birth defects and gender.

Anatomy Ultrasound

Non invasive screening procedure completed before 20 weeks of pregnancy. It gives information regarding size, weight, growth and possible birth defects or other abnormality that might complicate the pregnancy.

Who should be screened?

– Any expectant mother who wishes to take screening test.
– High risk cases

   •  Age above 35 years
   •  Family history of genetic disorder
   •  Partner is known carrier of genetic condition
   •  Prior child genetic abnormality or birth defect.