Author:
Baranova Elena E.,Sagaydak Olesya V.,Galaktionova Alexandra M.,Kuznetsova Ekaterina S.,Kaplanova Madina T.,Makarova Maria V.,Belenikin Maxim S.,Olenev Anton S.,Songolova Ekaterina N.
Abstract
Abstract
Background
A fast adoption of a non–invasive prenatal testing (NIPT) in clinical practice is a global tendency last years. Firstly, in Russia according a new regulation it was possible to perform a widescale testing of pregnant women in chromosomal abnormality risk. The aim of the study—to assess efficiency of using NIPT as a second-line first trimester screening test in Moscow.
Methods
Based on the first trimester combined prenatal screening results 12,700 pregnant women were classified as a high-risk (cut-off ≥ 1:100) and an intermediate-risk (cut-off 1:101 – 1:2500) groups followed by whole genome NIPT. Women from high-risk group and those who had positive NIPT results from intermediate-risk group were considered for invasive prenatal diagnostic.
Results
258 (2.0%) samples with positive NIPT results were detected including 126 cases of trisomy 21 (T21), 40 cases of T18, 12 cases of T13, 41 cases of sex chromosome aneuploidies (SCAs) and 39 cases of rare autosomal aneuploidies (RAAs) and significant copy number variations (CNVs). Statistically significant associations (p < 0.05) were revealed for fetal fraction (FF) and both for some patient’s (body mass index and weight) and fetus’s (sex and high risk of aneuploidies) characteristics. NIPT showed as a high sensitivity as specificity for common trisomies and SCAs with an overall false positive rate 0.3%.
Conclusions
NIPT demonstrated high sensitivity and specificity. As a second-line screening test it has shown a high efficiency in detecting fetus chromosomal anomalies as well as it could potentially lower the number of invasive procedures in pregnant women.
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynecology
Reference48 articles.
1. MacDorman MF. Race and ethnic disparities in fetal mortality, preterm birth, and infant mortality in the United States: an overview. Semin Perinatol. 2011;35(4):200–8.
2. Baranov AA, Namazova-Baranova LS, Belyaeva IA, Bombardirova EP, Smirnov IE. Medical and social problems of assisted reproductive technologies from the perspective of pediatrics. Vestn Ross Akad Med Nauk. 2015;3:307–14.
3. Baranov AA, Namazova-Baranova LS, Albitskiy V, Terletskaya RN. Tendencies of infantile and child mortality in the conditions of implementation of the modern strategy of development of health care of the Russian Federation. Vestnic RAMN. 2017;72(5):375–82.
4. Sukhikh GT, Karetnikova NA, Baranova EE, Shubina ES, Korostin DO, Evdokimov AN, et al. Noninvasive prenatal diagnosis of aneuploidies by high-throughput sequencing (NGS) in a group of high-risk women. Obstet Gynecol (Moscow). 2016;6:129–57.
5. Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056–65.
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