Первый опыт применения NGS секвенирования для проведения неинвазивного пренатального тестирования.

Т.Э. Иващенко, Е.С. Вашукова, П.Ю. Козюлина, О.Е. Талантова, А.Л. Коротеев, А.А. Пендина, А.В. Тихонов, О.Г. Чиряева, Л.И. Петрова, В.С. Дудкина, О.А. Ефимова, В.С. Баранов, А.С. Глотов

Research output: Contribution to journalArticle

Abstract

In recent years, non-invasive prenatal testing (NIPT) has been actively used to determine fetal chromosomal abnormalities. Non-invasive prenatal testing allows detection of chromosomal abnormalities in the fetus without any invasive intervention by analyzing fetal DNA from the maternal blood. Here, we summarized NIPT results introduced in D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology (Saint-Petersburg, Russia). The first NIPT results, obtained on 149 blood samples from pregnant women, proved the clinical value of this test for detection of fetal trisomies 21, 18 and 13. In 22 out of 149 samples, aneuploidies were identified; they were further proved by karyotyping of chorionic villi. Among 22 samples with aneuploidies, trisomy 21 was detected in 50% of cases, trisomy 18 – in 23% cases and trisomy 13 – in 9% cases. In one sample, double aneuploidy involving chromosomes 13 and 21 was detected. In one sample, trisomy X was identified. 100% of trisomies were confirmed by chorionic villi
Original languageRussian
Pages (from-to)1151-1157
JournalГЕНЕТИКА
Volume55
Issue number10
StatePublished - 2019
Externally publishedYes

Keywords

  • chromosomal pathology
  • NiPt
  • prenatal diagnosis
  • НИПТ
  • пренатальная диагностика
  • хромосомная патология

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