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 structure prenatal diagnostics Moscow. Material and Methods Totally 5,181 pregnancies undergoing screening for fetal trisomy using during period from 01.04.2020 to 30.09.2020 Russia. According results biochemical blood test, patients were divided into two groups: group high risk (cut-off ≥1:100) (n=208) intermediate 1:101 – 1:2500) (n=4,973). Patients at high-risk cell-free DNA (cfDNA) offered an invasive procedure, followed by genetic analysis (cytogenetic or molecular karyotyping). Results Among analysed samples, 117 (2.3%) had a following common chromosome abnormalities NIPT: 21 50 cases, 18 17 13 5 sex aneuploidy (SCA) 22 cases. Additionally, rare autosomal trisomies and/or subchromosomal arrangements revealed 23 We found associations between cfDNA concentration aneuploidies (particularly 21) low fraction (FF) body mass index (BMI) as well maternal weight. was associated with term gestation. Conclusion technological resources that are based on testing detecting abnormal numbers other chromosomal anomalies is reduce rates false positive results. Therefore, should be more widely used first-line method.