NIFTY: Non-Invasive Prenatal Testing (NIPT)

The NIFTY test is a non-invasive prenatal test (commonly termed an NIPT) that screens for Down Syndrome and certain other genetic conditions caused by extra or missing genetic information in the baby’s DNA. It’s important to note that all NIPTs like NIFTY, are screening tests and are not classified as diagnostic. This means that they are not 100% accurate and that ‘false positive’ or ‘false negative’ results can very rarely occur.

NIFTY consists of a small maternal blood draw and is available from as early as week 10 of pregnancy. Results are available within 7 working days.

NIFTY offers higher rates of accuracy than traditional screening tests and, unlike invasive procedures such as amniocentesis, poses no miscarriage risk to the mother or baby.

As of June 2021, over 9,400,000 NIFTY tests have been performed worldwide.

• Safe – no risk of miscarriage
• Early – screen from week 10 of pregnancy
• Fast – results delivered in under 7 working days
• Accurate – over 99% sensitivity for trisomy conditions 21, 18 and 13
• Trusted – over 6,000,000 samples processed worldwide, and validated on a study of over 147,000 pregnancies

1. SUITABLE FOR: pregnant women from week 10 of pregnancy
2. TA TIME: Under 7 working days
3. SAMPLE: Peripheral blood sample
4. TECHNOLOGY: Low coverage whole genome sequencing

What is NIPT? (Non-Invasive Prenatal Testing?)

Non-Invasive Prenatal Testing (NIPT) is a tremendous advancement in prenatal care that allows our Genetics Lab to screen chromosomes 13, 18, 21, X and Y at 10 weeks of pregnancy. NIPT detects the most frequent form of Trisomy 13 (Patau syndrome), 18 (Edwards syndrome), and 21 (Down syndrome) and identifies the gender of the baby through a non-invasive blood test. The validity of this test and its result has been tested clinically by multiple major health organizations, all coming to the consensus that NIPT is a major leap forward in detecting Down syndrome non-invasively.

Women who are pregnant with twins may complete NIPT at 12 weeks of pregnancy, however, the gender of the babies cannot be determined. 

It is important to note that while NIPT is accepted as an advanced non-invasive method with high screening validity, it should be used in conjunction with the available Antenatal Screening and Evaluation Tests mentioned below.

Who Is Recommended To Carry Out The NIPT?

Carrying out NIPT is recommended to all high-risk pregnant women who exhibit one of the following indicators: 

• Age 35 or older

• Previous history or family history of Trisomy 13, 18 or 21

• Abnormal screening test for Trisomy 13, 18 or 21

• Abnormal ultrasound markers (level II ultrasound) suggestive of Trisomy 13, 18 or 21

NIPT may be optional for low-risk pregnant women and should be discussed with your physician. You will consult in detail with your physician about your personal risk of carrying a child with trisomy 21.

How Does NIPT Work?

The NIPT test centers on the analysis of cell-free DNA (cfDNA) in the pregnant woman’s blood. These small fragments of genetic material are not contained within cells, but circulate freely in the mother’s bloodstream and contain maternal DNA as well as between 2-40% (on average about 10%) fetal genetic material. The NIPT determines whether the pregnant woman’s blood contains elevated levels of fetal genetic material for a particular chromosome, indicating a corresponding trisomy in the unborn child.

What Other Non-Invasive Antenatal Screening Tests Are Available?

Previously, readily available non-invasive Antenatal screening tests of Down syndrome included the first-trimester blood test, second-trimester blood test, & the nuchal translucency ultrasound. These screening tests provide you with a risk assessment of Down syndrome and trisomy 13 and 18.

What Diagnostic Tests Are Available?

To diagnose Trisomy 13, 18 and 21 (Down syndrome) definitely, an invasive test, such as Amniocentesis, must be completed. Amniocentesis involves puncturing the amniotic membrane to collect cells, called amniocytes, from the amniotic fluid so that genetic testing can take place.

References:

1. Global perspectives on clinical adoption of NIPT

2. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes

3. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome

4. Performance of the neoBona test: a new paired-end massively parallel shotgun sequencing approach for cell-free DNA-based aneuploidy screening