llumina VeriSeq N4 (Trisomy 21, 18, and 13 + aneuploidy X, Y + gender)

llumina VeriSeq N4 – is a non-invasive prenatal test (NIPT) designed to assess the risk of trisomies 21, 18, and 13 (Down, Edwards, Patau syndromes) and X and Y chromosome aneuploidies (XXY, XYY, XXX, and X monosomy). The fetal sex is indicated. The NIPT test is based on the analysis of free fetal DNA, using whole genome sequencing (WGS). In the cell-free DNA (cfDNA) circulating in the blood of the pregnant woman, a fraction of the fetal placental DNA (cffDNA) is detected.

The mentioned fetal sex chromosome aneuploidies can only be determined in singleton pregnancies. In twin pregnancies, sex chromosome aneuploidies are not determined. The fetal sex can only be determined in singleton pregnancies, while in twin pregnancies, it can be determined whether at least one of the fetuses has a Y chromosome (possible results: both fetuses are girls, or at least one of the fetuses is a boy). The pregnant woman can choose whether she wants to know the fetal sex or not.

Recommendation for when to perform the test: singleton and twin - from the 10th week of pregnancy.

Sample: blood.

Time to completion after laboratory receipt: 2-7 business days.