What abnormalities does the NIFTY test show?

The NIFTY test practically screens 100% of the cases with Down syndrome, Edwards’ syndrome and Patau syndrome and 97-98% of the cases with X and Y chromosome abnormalities. The NIFTY test can also be used to determine the gender of the fetus.

The first and the most important abnormality that can be detected using the NIFTY test is Down syndrome, which is trisomy 21, that is, the presence of three copies of chromosome 21. (Similarly to other somatic chromosomes, healthy fetuses have only two copies of chromosome 21.)

This test is based on the fact that the extra chromosome in the genetic material of the fetus slightly increases the amount of fetal DNA in the maternal blood.

The test first detects this increase, than it is determined whether the DNA in excess comes from chromosome 21 of the fetus.

In Europe, one in every 500-600 fetuses is affected by this chromosome abnormality.

The NIFTY test can also be used to detect two other chromosome abnormalities. One of these abnormalities is Edwards’ syndrome, which is trisomy 18 (that is, there are three copies of chromosome 18 instead of two copies). This abnormality occurs in 1 in 5,000 fetuses.

Furthermore, the NIFTY test also detects the Patau syndrome, which is trisomy 13 (that is, the presence of three copies of chromosome 13 instead of two copies). This is the third most common trisomy, which occurs in 1 in 10,000 pregnancies.

How accurate is the NIFTY test?