Noninvasive prenatal screening for fetal aneuploidy (NIPS): usage for obstetric and gynecological care

Abstract

Widely performed in Russia prenatally first-trimester screening is based on secondary markers of pathology and has limited sensitivity and specificity. The most promising alternative is the use of noninvasive prenatal screening for fetal aneuploidy (NIPS). This study aims to validate the possibility of NIPS usage for obstetric and gynecological care. DNA screening was validated on samples with known results of invasive prenatal diagnostics (N=1134). It was proven that it is possible to store and transport the samples (N=477). We studied plasma aliquot samples after one year of storage (N=70). Factors that can influence the NIPS results were also evaluated: the proportion of fetal DNA, body mass index (BMI), gestational age, mosaicism, and others.