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Non Invasive Prenatal Testing- NIPT and also called by a more correct term NIPS, is a genetic test to screen for common genetic alterations in a developing baby.
Constantly changing eating habits, irregular lifestyles, preference of jobs over family planning, rise in maternal age and numerous other reasons affect the fertility of women. The result is, a steep rise in reporting of cases of fetal abnormality, recurrent abortions and impotency in females. Therefore the need of better, safe and reliable non invasive test is very much desired to rule out any such abnormalities at early stage of pregnancy to safeguard mother and child health. In this regards, NIPT has become the ideal test of choice. With increased awareness among gynecologists, Non Invasive Prenatal testing is fast becoming mandatory test for high risk pregnancies.
This test is prescribed from 10th week onward of pregnancy. It involves detecting of genetic abnormalities from cell free fetal DNA in mother’s blood. It is usually recommended to confirm any abnormal findings in Level 2 Ultrasound Scan also called as NT (Nuchal Translucency) test.
Traditionally, your gynecologist suggests for Double or Triple Marker biochemical analysis followed by Amniocentesis to confirm the findings. NIPT is an alternative to many such investigations.
Doctors often prescribe Non Invasive Prenatal testing to rule out most common genetic alterations called Aneuploidies affecting fetus. Aneuploidies refer to abnormal chromosome number in an individual. Some of these are Down syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Turner Syndrome (Monosomy X), Klinefelter’s Syndrome (XXY), Triple X Syndrome etc.
What does NIPT results mean?
A NIPT test result is not a confirmatory but is 99% accurate. It is the reason why legally in India, it is called Non Invasive Prenatal Screening and not Non Invasive Prenatal Test because it is not a diagnostic test but only a screening test. Positive results are confirmed by amniocentesis while Negative results doesn’t mean everything is safe. Its results are clinically correlated and a Negative NIPS may move the investigation into other directions away from common aneuploidies.
Who should go for Non Invasive Prenatal Testing?
Although NIPT test can be prescribed for anyone but the following high risk scenarios require special attention:
- Pregnant mothers over 35 years of age– With increased maternal, the chances of chromosomal abnormalities increase by many fold. It has been seen that for women above 40 years, the chances of chromosomal abnormality in fetus can be upto 70-80%.
- Pregnant mothers having family history of such genetic disorders- A family history of genetic disorders during pregnancy may place you in a high risk segment.
- Recurring pregnancy abortions- If you or some in you family has ever had natural abortions, you may be at high risk to carry the disorders. Your child is also at high risk to develop a genetic abnormality.
What is Non Invasive Prenatal Testing technology?
NIPT is either done by an advanced DNA sequencing technology called Next Generation sequencing (NGS) or by Array technology. NGS screens for all 24 chromosomes while Array targets specifically to certain chromosomal locations. Both technologies are good but sometimes there is a difference in prices as array is cheaper. However, NGS gives more flexibility in detecting more abnormalities other than just aneuploidies.
How much Non Invasive Prenatal Testing cost in India?
There are many companies in India that provide NIPT testing. Some of the major players are Medgenome Labs, Bengaluru; Eurofins Clinical Genetics India, Bengaluru; Redcliffe Life sciences, Delhi; Supratech Labs, Ahmedabad; Anderson Labs, Chennai. The price ranges from 18000 INR to 24000 across India.
Is Non Invasive Prenatal Testing safe?
Yes, it is completely safe for mother and fetus because just 10 ml of mother’s blood is required and taken from arm. The reports are available between 7 to 15 days.
What are the benefits of Non Invasive Prenatal Testing ?
It is highly beneficial on several points.
- Safety: It does not pose any risk to developing fetus as compared to amniocentesis.Only maternal blood is required just normal blood tests.
- Early detection: NIPT can be done as early as 10th week of gestation thereby giving sufficient time to doctor to take decisions. Amniocentesis is done between 15 to 20 weeks of gestation. By the time results are available there is very less time available to decide the course of pregnancy.
- Flexibility: NIPT provides opportunity to look for genetic changes beyond just aneuploides by screening for all 24 chromosomes. It can give additional information for Microdeletions such as Angelman Syndrome, Prader willi Syndorme, Digeorge Syndrome. A single NIPT test can provide a lot of information compared to amniocentesis.
If you know someone who is in high risk pregnancy case, recommend them to talk their gynecologist to learn more about these tests.
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