NIFTY is a prenatal test that detects chromosome abnormalities during early stages of pregnancy. This non-invasive test can be performed as early as week 10 of pregnancy. It can also be performed in multifetal pregnancies (twins).
The test was developed in 2010 by the renowned research organization BGI.
Which diseases can the test detect?
The NIFTY prenatal test is available in two versions, a basic version, and an extended version.
NIFTY basic: tests for three common chromosome abnormalities – trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome) and trisomy 21 (Down syndrome). It also provides information on the sex chromosomes.
NIFTY extended: the extended version tests all 23 pairs of fetal chromosomes and can detect around twenty chromosomal abnormalities. This version has an accuracy rate of 99% in detecting the three most common trisomies (trisomy 18, 13, and 21), but its accuracy rate in detecting other disorders has yet to be determined and is still being researched.
How is the test performed?
This test is performed like other routine blood tests.
Since around 10% of genetic material in maternal blood circulation originates from the fetus, analyzing this genetic material can provide extensive information about fetal DNA.
The test is non-invasive. It is considered safe, causes no side effects, and poses no risk to the mother or fetus.
After the blood sample is collected, it is sent to a laboratory and analyzed. Sending the sample to the lab required arranging a collection by courier. Results are often available within 10 – 14 days.
On rare occasions, the test is repeated due to technical malfunction, but this is very uncommon.
Can this test detect all genetic disorders?
Since this test only screens for chromosome abnormalities, it does not diagnose all genetic mutations. However, the extended version is considered advanced and is the only test that allows diagnosing over twenty chromosomal abnormalities resulting from chromosome duplications or deletions using a blood sample.
It should be noted that although NIFTY testing is considered more accurate than the triple screening test regarding chromosome abnormalities, it cannot detect other defects such as neural tube defects. For this reason, it is recommended not to give up the triple test even after undergoing a NIFTY test.
In addition, the NIFTY test cannot replace fetal ultrasound screenings, since these scans can detect many fetal anomalies that the NIFTY test cannot detect.