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What Is A NIPT Test? A Comprehensive Guide For Your Prenatal Journey

Have you ever heard a doctor asking pregnant women to undergo a NIPT test? What is this test about? Is it necessary to perform? How long do NIPT results take? Or is it a scam?

NIPT is a non-invasive prenatal test that helps to determine if the foetus has any congenital birth defects or chromosomal abnormalities.

This is a screening test done to check the free cell DNA floating in the mother’s blood.

This test helps to catch any abnormalities early in pregnancy and decide the treatment mode required.

Let us discuss the details of the NIPT test and when, how, and where to do it.

A] What Is The NIPT Test And How Does It Work?

A pregnant female has free DNA floating in her blood, which is released after the disintegration of a cell. This free cell DNA is a mix of the mother’s DNA after cell disintegration and from the foetus’s placenta. Free cell DNA has less than 200 chromosomes, and the NIPT test checks for any missing, extra or duplicated chromosomes. 

The non-invasive prenatal testing determines the sex of the foetus. It confirms any congenital defects like Down’s syndrome or sex chromosome defects like Turner’s syndrome, triple X syndrome, cystic fibrosis or sickle cell anaemia.  Earlier, this test was performed only on females who were at risk, but in recent times, it has become one of the important tests for pregnant females.

1. What Are The Benefits Of NIPT Over Other Prenatal Tests?

There are various prenatal tests, like amniocentesis, that a pregnant female can select to perform, where the mother’s serum or direct placenta is removed for testing. This is an invasive test which can have few complications or can result in fetal death. These tests need to be performed in the first and second trimesters. Whereas the NIPT test is just a blood test, thus, it is a non-invasive test. 

Other prenatal tests need a combination of tests to confirm the results, whereas the NIPT test itself is enough to determine any change in DNA. The NIPT test doesn’t have any side effects. It is very accurate and lowers the risk to the mother and the foetus.

2. Who Should Consider Undergoing NIPT?

This test is generally performed on high-risk females but is nowadays recommended to every pregnant female for early detection of abnormalities. This high-risk group of females who require NIPT are females of advanced age that is above 35 years, have previous pregnancies of chromosomal abnormalities, have a family history of chromosomal defects, have NT thickening, ultrasound shows some abnormalities in the foetus, twin IVF or ET pregnancy, and contraindication for interventional surgery. A positive NIPT test in the first trimester calls for a repeat NIPT test in the second trimester.

3. Explanation Of The Types Of Conditions NIPT Can Detect?

The NIPT test looks for any added or deleted chromosomes or any defect in the chromosome. The addition of an extra copy of chromosome 21 causes Down’s syndrome. NIPT is highly sensitive in screening Down’s syndrome. An extra copy of chromosome 18 causes trisomy 18 which is Edwards syndrome. This affects the intellectual and physical abilities of the foetus. An extra copy of chromosome 13 causes trisomy 13 or Patau syndrome.

This causes intellectual and physical abnormalities leading to a small life span. Whereas Turner syndrome is caused by partial depletion or missing X chromosome in females. The NIPT test is a highly accurate screening test with fewer false positives, but it is not a diagnostic test. Once the NIPT test is positive, one must perform other tests to confirm the abnormality.

B] When Is NIPT Performed During Pregnancy?

Non-Invasive Prenatal Testing also known as NIPT Test can be done when you have a sufficient sample of free cell DNA in the mother’s blood. NIPT genetic testing can be performed as early as nine weeks of gestation compared to other prenatal tests, which can be performed only after the 10th or 11th week of gestation. You can also use this test as late as 40 weeks of gestation if you have missed it in the early days of pregnancy.

NIPT test should be done before any other genetic screening test for better understanding. The exact test time needs to be discussed with your private gynaecologist and the whole of your healthcare team.

C] Preparation Before The Test

Discuss the need for the NIPT test, when to perform the NIPT test, how it will performed and what the requirements are with the healthcare team or experts. Once satisfied with the explanation and doctor’s advice, decide an appropriate time for the test during your 9th or 10th week of gestation. Check with the insurance company for the necessary paperwork. On the test day, you just need to undergo a blood test.

The technician will draw the blood from the pregnant female’s veins and look for fragments of DNA from the foetal placenta for any abnormalities. There is no fasting required to perform this test. Each diagnostic centre has its protocol, so follow their instructions for the test to be performed without hindrance. Once the blood is drawn, the sample is sent to the lab for further testing of the chromosomes. The result takes up to 3 to 5 days.

The doctor will pair the nipt test results with other tests like ultrasound for any conclusion. If the test is positive for any abnormalities, the doctor will further decide on the follow-up tests to confirm the abnormality. Once the test is performed, there is no specific aftercare to be done by the mother. She can start with a regular, healthy lifestyle. NIPT Test in London (IONA Test) will help you solve all your doubts and queries.

D] What Are The Potential Risks And Limitations?

 The NIPT test is 99% accurate with the results. However, chromosomal defects are found only in 1 % of the foetuses. NIPT gives a chance result when the foetus might not even have the abnormality. NIPT is accurate for Down’s syndrome, Patau Syndrome, Edwards Syndrome, Turner syndrome and other sex chromosome-related abnormalities. However, NIPT has its limitations with other rare genetic conditions; thus, it cannot be used to screen all genetic abnormalities. 

There is a possibility of false positives or false negatives if this test is performed in a non-risk group. This might be because NIPT might perform differently in the non-risk groups. All diagnostic centres are not equipped for further gene testing if the NIPT test is positive; thus, the patients are left confused about the next step. If the test is performed too early, the result might be misleading because of insufficient DNA fragments in the mother’s blood. The NIPT test alone cannot determine any structural defects. You need to combine NIPT with ultrasound for the structural defects in the foetus.

Conclusion

The NIPT test is an important test to determine any chromosomal defect like addition, deletion or abnormality in the sex chromosomes of the foetus. This is a screening test which will help to decide if you need any further tests to confirm the abnormality. The main advantage of this test is that it can be performed as early as the 9th or 10th week of pregnancy, it is non-invasive and safe for both the mother and the foetus. The pregnant couple should discuss the need for this test and when to perform it with their doctor. Contact us for further details.

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