llumina VeriSeq N6 (Trisomy 21, 18, and 13 + aneuploidies X, Y + large deletions and duplications + analysis of all other autosomal chromosome aneuploidies + gender)

llumina VeriSeq N6 – is a non-invasive prenatal test (NIPT) designed to assess the risk of trisomy 21, 18, 13 (Down, Edwards, Patau syndromes) and aneuploidies of the X and Y chromosomes (XXY, XYY, XXX, and X monosomy), as well as to identify certain changes in the number of copies of genetic material fragments within chromosomes, i.e., large deletions and duplications (CNVs, copy number variants) larger than 7Mb, and to perform analysis of all other autosomal chromosomes for possible aneuploidies. The fetus's gender is indicated. The NIPT test is based on the analysis of free fetal DNA through whole genome sequencing (WGS). The circulating cell-free DNA (cfDNA) in the pregnant woman's blood includes a fraction of fetal placenta DNA (cffDNA).

The specified fetal sex chromosome aneuploidies can only be determined in the case of a singleton pregnancy. In the case of a twin pregnancy, sex chromosome aneuploidies are not determined. The fetal gender can only be determined in the case of a singleton pregnancy; in the case of a twin pregnancy, it can be determined if at least one fetus has a Y chromosome (possible outcomes: both fetuses are girls, or at least one fetus is a boy). The pregnant woman can choose whether or not to find out the fetal gender.

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

Sample: blood.

Completion time after arrival in the laboratory: 2-7 business days.