Maternal/Prenatal Screening

Discovering the risks of a birth defect early in the pregnancy could help the parents and the doctor make informed decisions at the right time.
Every parent desires to have normal healthy babies. However, there are possibilities of genetic abnormalities in babies. These possibilities or risks may range from 1 in 100 to 1 in few thousands depending upon the age, background, family history and several other factors.
The genetic abnormalities, also known as genetic syndromes may cause mild to severe deformities and disabilities in the children. Some of the syndromes like ‘Downs Syndrome’ (also known as Trisomy 21 due to the presence of extra chromosome number 21) is quite well known because they are relatively more common with the general population risk around 1 in 800 live births. Other syndromes with similar or lesser probabilities are not very well known in the society. However, collectively all these syndromes to pose a significant risk.
Knowledge about these syndromes can help parents take an informed decision. Hence identifying and/or ruling out these abnormalities early in the pregnancy is very important. While it is true that all the genetic abnormalities cannot be ruled out, we can at least rule out the more common ones.
Did you know that you can now learn about the risks for genetic abnormalities as early as 1st Trimester? The detection rates are also getting better with the advent of new technologies. And, on top of all this, now you have multiple options to choose from. These screening tests provide a safe and non-invasive method for pregnant women to learn about the risks of common genetic abnormalities. If you’re pregnant, a screening test can tell you early in the pregnancy about the risks of Downs Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13) and a few others.
If the screening test indicates a higher risk, the patient can go for further diagnostic tests to get a definite answer.
The following screening tests options are available based on the gestational age and other risk factors:

First Trimester Screening – Double Marker Test (10 to 13+6 weeks)

Early detection and higher sensitivity.

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Second Trimester Screening – Triple/Quad Test (16 to 21 weeks)

In case you miss the first trimester, you still have a chance.

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Non Invasive Prenatal Screening (NIPS) (after 10 weeks)

High sensitivity NGS based screening.

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