Results of combined and non-invasive prenatal screening by high throughput sequencing method for fetal chromosomal aneuploidy prediction in women with recurrent abortion

• Kim L.V.
• Nana K. Tetruashvili
• Dmitry Yu. Trofimov
• Barkov I.Yu.
• Shubina Ekaterina S.
• Parsadanyan N.G.
• Fedorova N.I.
• Andrey Yu. Goltsov

Abstract

The aim of the study was to compare the efficacy of standard combined I trimester of pregnancy screening and noninvasive prenatal maternal blood DNA screening for fetal aneuploidy (NIPS) for prediction of fetal chromosomal aneuploidies (CA) in women with recurrent abortion (RA).

Material and methods. The results of standard combined screening and NIPS were obtained for 600 pregnant women at 11-17 weeks of gestational age: 270 women were observed for RA, 330 were examined for other indications.

Results. In the study of fetal DNA in pregnant women blood plasma using high throughput sequencing method, all variants of autosomal trisomy (21^st, 18^th and 13^th) were correctly identified and fetal gender was correctly determined in all cases. Among all NIPS results 270 patients with RA had no false-positive results. In 269 of 270 cases, women with RA received exact DNA screening results, in 1 case false-negative result was obtained, related to Down's syndrome mosaic form, which was postnatally confirmed by the FISH method.

Conclusion. Research has shown that NIPS is an accurate method for fetal CA screening from early gestational age, it allows to detect CA cases in low-risk women and can be recommended to women as a highly effective prenatal screening.

Keywords:noninvasive prenatal DNA screening, aneuploidy, noninvasive prenatal screening, free DNA, pregnancy, screening, threatened miscarriage

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