Non-invasive prenatal testing (NIPT), also referred to as non-invasive prenatal screening (NIPS), has revolutionized the care of pregnant girls. It analyses cell-free fetal DNA which is circulating within the mom’s blood. NIPT/NIPS is a worthwhile prenatal screening software that gives a non-invasive evaluation of fetal genetic danger for widespread chromosomal circumstances throughout being pregnant. It offers early and correct info that may information subsequent prenatal care and decision-making. It might assist mother and father recognise and perceive if their little one is at any form of danger of creating illnesses. Right here’s every part you want to learn about non-invasive prenatal testing.

What’s non-invasive prenatal testing (NIPT)?

Non-invasive prenatal testing is a sophisticated genetic screening check used throughout being pregnant to evaluate the danger of sure genetic circumstances or chromosomal abnormalities within the fetus. These circumstances embody Down syndrome, Edwards syndrome, and Patau syndrome. NIPT/NIPS is carried out utilizing a easy blood check from the pregnant girls. It’s used to investigate fetal DNA that’s circulating of their bloodstream. About 20 milliliters of the mom’s blood is taken for the check and the end result turns into obtainable in about 10 days.

This check will be achieved from 10 weeks of being pregnant. Historically, double markers had been used as a screening check for Down syndrome between 11 to 13 weeks of being pregnant as first-trimester serum (blood) screening. It has a detection fee of about 80 p.c. When mixed with a nuchal scan, the detection charges are about 90 p.c with a 5 p.c false constructive. This implies about 5 p.c of ladies will check constructive even when their child is regular and would want additional invasive testing. Quadruple marker is a second-trimester screening check for Down syndrome. It’s carried out between 15 to 22 weeks. It has a detection fee of 80 p.c for Down syndrome with 5 p.c false constructive.

Why is NIPT used?

NIPT/NIPS is primarily used to display screen for widespread chromosomal circumstances within the fetus, significantly:

• Trisomy 21 (Down syndrome): That is brought on by an additional copy of chromosome 21.
• Trisomy 18 (Edwards syndrome): That is brought on by an additional copy of chromosome 18.
• Trisomy 13 (Patau syndrome): That is brought on by an additional copy of chromosome 13.
• Intercourse chromosome abnormalities: NIPT/NIPS may display screen for circumstances akin to Turner syndrome (monosomy X) or Klinefelter syndrome (XXY).

How does it work?

Throughout being pregnant, a small quantity of fetal DNA is of course launched into the pregnant lady’s bloodstream. NIPT/NIPS makes use of a maternal blood pattern to isolate and analyze this fetal DNA. By inspecting the relative quantities of various chromosomes or particular genetic markers, the check can estimate the danger of sure chromosomal abnormalities.

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Benefits

• Non-invasive: NIPT/NIPS doesn’t pose any danger of miscarriage as a result of it solely requires a blood pattern from the pregnant individual.
• Excessive accuracy: NIPT/NIPS has a excessive detection fee for widespread chromosomal circumstances, significantly Down syndrome, with decrease false-positive charges in comparison with conventional screening exams like maternal serum screening (instance: quad display screen).
• Early detection: NIPT/NIPS will be carried out as early as 9-10 weeks of being pregnant, offering earlier outcomes in comparison with different diagnostic exams like amniocentesis or chorionic villus sampling (CVS).

How correct is NIPT/NIPS?

NIPT is extremely correct. The detection fee of Down syndrome is 99 p.c, 96 p.c for Trisomy 18, and 91 p.c for Trisomy 13, states a examine revealed within the journal Diagnostics. NIPT has the best detection achieved by any noninvasive check.

A mixed evaluation with ultrasound and a NIPT considerably reduces the necessity for invasive procedures like Amniocentesis.

False constructive NIPT

• The accuracy of NIPT is 99% for Down syndrome. The probabilities for false positives are uncommon. Extra information is required to cite precise figures.
• False destructive NIPTs very uncommon, about 0.02-0.2% in detecting autosomal chromosomal circumstances like Down syndrome.

What are the dangers related to NIPT?

NIPT has zero danger of miscarriage. CVS process has a miscarriage danger of 0.5 to 1 p.c. Amniocentesis has a miscarriage danger of 0.25 to 0.5%.

Limitations and concerns of NIPT

• NIPT has lowered sensitivity for twin being pregnant. It’s not obtainable for triplets or higher-order a number of pregnancies.
• It’s not obtainable for different genetic circumstances like cystic fibrosis.
• It may give false constructive or false destructive outcomes.
• It’s not obtainable for ladies who themselves have Down syndrome, balanced chromosomal translocations, or most cancers.
• Ladies with organ transplants or blood transfusions within the final 4 months can not do it.
• NIPT can not display screen for all chromosomal circumstances. Not all NIPT panels display screen for circumstances associated to intercourse chromosomes like Turners, Klinefelter, and Triple X syndrome.
• Since NIPT is a screening check, for all constructive circumstances a diagnostic check is advisable for affirmation which is CVS or Amniocentesis. A being pregnant can’t be terminated based mostly on a screen-positive NIPT end result.

Who ought to do NIPT?

• NIPT is obtainable to all pregnant girls from 10 weeks within the USA, even to a low-risk inhabitants.
• It needs to be provided and thought of by girls whose maternal age is > 35 years, ultrasound reveals irregular findings, or there’s a household or private historical past of chromosomal abnormality.

Are there any limitations?

• Any pregnant lady present process NIPT ought to perceive that although that is one of the best screening check obtainable up to now, it will probably have false positives and false negatives. Any irregular end result would require additional invasive testing by Amniocentesis or CVS.
• Potential mother and father in early being pregnant must have sufficient info on NIPT. With advances in expertise, sooner or later, extra circumstances shall be recognized by noninvasive testing. As of right now, NIPT is having a wonderful triumph above all noninvasive screening exams.

What do you want to think about?

• NIPT/NIPS outcomes needs to be interpreted by a certified healthcare supplier who can talk about the implications of constructive or irregular findings and information additional diagnostic testing if needed.
• NIPT/NIPS is elective and is obtainable to pregnant people based mostly on their private preferences and danger components.

After contemplating all components, you possibly can go for the check to evaluate fetal genetic danger for widespread chromosomal circumstances throughout being pregnant. You also needs to discuss to your physician to grasp it and if you happen to ought to get this check.

Concerning the Writer

Dr Chetna Jain is an skilled gynaecologist who takes benefit of the newest technological advances for high quality care tailor-made to sufferers’ wants. She practices trendy medication based mostly on the present tips and protocols laid by RCOG. With particular experience and curiosity in high-risk being pregnant, she has efficiently handled numerous Indian and worldwide sufferers affected by fibroids, ovarian cysts, ectopic being pregnant, adenomyosis, endometrial polyps, tubal block, and infertility. She is the Director within the division of obstetrics and gynaecology at Cloudnine Group of hospitals. …Learn Extra