Kit for Detection and Analysis of Aneuploidies of Chromosomes 13, 18, 21, X and Y |Devyser Compact ⁠v3

NIPT is a screening test performed on placenta-derived cfDNA, not a diagnostic test on fetal cells. False positives due to confined placental mosaicism, vanishing twin syndrome or maternal tumors have all been well described in the literature. Therefore, professional guidelines require confirmation of a positive NIPT result by a diagnostic test on amniotic fluid or chorionic villus samples before counseling on pregnancy decisions.

QF-PCR is the standard rapid confirmation method for this role. Compared with traditional karyotyping, which requires 1-2 weeks of cell culture, QF-PCR delivers results on the same day - a significant factor when the pregnant woman is anxiously waiting and the decision-making window narrows as gestational age advances.

The single-tube 26-marker design of Compact v3 increases the number of informative markers per chromosome and reduces the risk of inconclusive results when some markers are not heterozygous. Two additional identification markers provide quality control tailored to the high-throughput laboratory: detecting mix-ups or cross-contamination between samples - the risk with the most serious consequences in the context of prenatal diagnosis.

The patented Turner syndrome detection method addresses the inherent weakness of QF-PCR with monosomy X - a situation in which all markers on the X chromosome are homozygous, making it difficult to distinguish true Turner syndrome from an ordinary uninformative case.