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Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnanciesстатья Электронная публикация
- Авторы: Baranova E.E., Sagaydak O.V., Galaktionova A.M., Kuznetsova E.S., Kaplanova M.T., Makarova M.V., Belenikin M.S., Olenev A.S., Songolova E.N.
- Журнал: BMC Pregnancy and Childbirth
- Том: 22
- Номер: 1
- Год издания: 2022
- Издательство: BioMed Central
- Местоположение издательства: London
- Номер статьи: 633
- DOI: 10.1186/s12884-022-04966-8
- Аннотация: 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.\ 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.\ 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%.\ 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.
- Добавил в систему: Беленикин Максим Сергеевич