Non-Invasive Prenatal Testing (NIPT) is a blood test performed during pregnancy to determine the likelihood of the baby having certain genetic conditions. Tiny fragments of the baby’s DNA, known as cell-free DNA (cfDNA), circulate in the mother's bloodstream and are derived from the placenta. NIPT analyses this cfDNA to detect chromosomal abnormalities in the foetus without the need for invasive procedures like amniocentesis (testing the amniotic fluid) or chorionic villus sampling (CVS – testing placental tissue). It is particularly useful in identifying disorders caused by missing or extra chromosomes.

The primary conditions screened for by NIPT include:

• Trisomies : An extra chromosome, such as Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome).

• Sex chromosome aneuploidies : Abnormal numbers of X or Y chromosomes, such as Turner syndrome, Klinefelter syndrome, and Triple X syndrome.

• Microdeletions : Some NIPT panels can also detect microdeletions like 22q11.2.

The advantage of NIPT over other genetic tests is that it is non-invasive and only requires a blood sample, unlike other chromosomal tests that are invasive. As a screening test, NIPT assesses the risk but does not confirm a diagnosis. If it suggests a high risk, further tests like amniocentesis or CVS may be necessary to confirm the results. For residents of Pune, the convenience of at-home NIPT testing, including sample collection and fast results, makes it a preferred choice.

For accurate results, please follow these key guidelines before taking the NIPT test:

Prerequisites

• Requires Latest NT Scan report for this test.

• No special requirements, such as fasting, are needed before the NIPT test.

Best Time to Get Tested

The NIPT test can be performed at any time throughout the day. It is typically done from the 10th week of pregnancy onward, since fetal DNA levels may be too low before then.

Who Should Get a NIPT Test?

Pregnant individuals with a high risk of a child having chromosomal abnormalities should undergo this test. The test is also offered to all pregnant individuals.

Cautions Before Taking a NIPT Test

There are no special precautions to be taken before undergoing the NIPT test.

NIPT is suggested for pregnant individuals who may be carrying a foetus at risk of genetic disorders, such as:

• Pregnant individuals at all risk levels : Initially advised only for high-risk pregnancies, NIPT is now recommended for all expectant parents, regardless of risk level.

• Parents with a history of genetic conditions : Those who have previously had a child with a chromosomal abnormality may choose NIPT to assess the likelihood of similar issues in their current pregnancy.

• Individuals with abnormal ultrasound findings : If an ultrasound shows potential developmental concerns, NIPT can be used to assess the risk of certain genetic conditions.

• Individuals with abnormal early screening results : If earlier prenatal screenings raise concerns, NIPT can provide more accurate insights into possible chromosomal abnormalities.

• Expectant parents seeking a comprehensive genetic screening : As genetic testing technology progresses, NIPT can now detect additional genetic disorders, offering valuable early insights for prenatal care.

NIPT can accurately detect common chromosomal conditions like Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13) with high accuracy (94-99%). It can also identify sex chromosome abnormalities such as Turner syndrome (missing X chromosome) and Klinefelter syndrome (additional X chromosome in males).