Adoption of a non-invasive prenatal test (NIPT) in prenatal screening in Moscow: first results

The objective. To assess the effectiveness of including NIPT in the structure of prenatal diagnostics in Moscow.

Results. Among the analysed samples, 117 (2.3%) had a high risk of the following common fetal chro-mosome abnormalities by NIPT: trisomy 21 in 50 cases, trisomy 18 in 17 cases, trisomy 13 in 5 cases, and sex chromosome aneuploidy (SCA) in 22 cases. Additionally, rare autosomal trisomies and/or sub-chromosomal arrangements were revealed in 23 cases. We found associations between cfDNA con-centration and high risk of aneuploidies (particularly trisomy 21) and fetal sex and between low fetal fraction (FF) and body mass index (BMI) as well as maternal weight. Additionally, a high risk of trisomy 21 was associated with the term gestation.

Conclusion. The effectiveness of technological resources that are based on cfDNA testing for detect-ing abnormal fetal chromosome numbers and other chromosomal anomalies is high and reduce rates of false positive results. Therefore, NIPT should be more widely used as a first-line screening method.