Genetic abnormality is rare not uncommon and slightest of the difference can lead to a genetic disorder in the newborn baby. The advanced and high throughput sequencing technique help in early intervention and detection of aneuploidy in the growing fetus.
The genetic screening technique is a powerful and promising method for analyzing the genetic or chromosomal abnormality in the fetus. The NIPT test is a simple maternal blood test during the first or second trimester which provides genetic screening.
The ideal time to go for the prenatal screening is during the first trimester. Early determination of pre-disposition of genetic conditions helps couples seek genetic counselling and take the right decision.
How is the NIPT Screening Conducted?
NIPT is one of the easiest and simplest techniques for screening and analyzing the fetal cfDNA (cell-free DNA) circulated in the maternal blood. A blood sample is drawn from the mother to check for aneuploidy in the normal chromosome as well as sex chromosome.
The conditions or chromosomal aberrations NIPT screening can analyze and check:
- It helps in analyzing aneuploidy like Trisomy 21(Down Syndrome), Trisomy 13 (Patau Syndrome) and Trisomy 18 (Edwards Syndrome).
- Prenatal cfDNA screening help in screening for the occurrence of Trisomy 16, Trisomy 22, Triploidy and various sex chromosome aneuploidy.
In case the test results come positive for the prenatal genetic screening test, it helps in seeking further genetic counselling and analysis. The results help couples take a diagnostic test like chorionic villus sampling or amniocentesis which are invasive techniques but necessary for confirmation of genetic condition in the fetus. These genetic tests help in analyzing the presence of chromosome abnormality with 100% accuracy as in invasive technique, the test is conducted on baby’s genetic material from amniotic fluid or placenta.
Who and When the NIPT Screening should be done?
The Non-Invasive Prenatal Testing should be performed during the first trimester between 9 weeks to 14 weeks of pregnancy. The earlier the test is performed; the easier it is to plan an intervention or take the next step into pregnancy.
Although NIPT is found to show 99% accurate results for trisomy 21 (Down Syndrome), at times it even creates false alarms. At times it can measure the hormones or special proteins and create a false-positive result. However, it predicts the risk of Down Syndrome by 99%.
- It is highly recommended for women who are above the age of 35 years. Pregnancy above the age of 35 years increases the risk of chromosomal abnormality in the fetus.
- For couples with a family history of genetic disorders or conditions.
- It is recommended for mothers who had given birth to a child previously with a genetic disorder.
- With a history of miscarriages.
- Abnormal test results from other screening tests.
Irrespective of the situation or condition, the NIPT screening is like a regular check-up and is mostly recommended by doctors. Getting screened and tested does not mean there is something wrong with the fetus. However, taking the test is a precaution that helps in screening for any possible chromosomal aberrations. After NIPT, in case the results turn out to be positive, one can further opt for invasive diagnostic techniques for 100% confirmation.
Cost of NIPT Screening in Molecular and Diagnostic Center
The advanced molecular diagnostic labs provide complete maternal and prenatal genetic screening at affordable rates. According to the American College of Obstetricians and Gynecologists (ACOG), NIPT screening is recommended for every pregnant woman. The NIPT/NIPS Test Cost in India vary across various diagnostic companies or labs. The cost varies from Rs 15,000 to Rs 22,000 depending on the location and type of prenatal screening. A comprehensive NIPT package cost higher whereas for conducting specific genetic aberrations, the cost is low.
