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Detection of chromosomal rearrangements in the short arms of chromosomes 4 and 12 as an example of a whole-genome approach to noninvasive prenatal testingстатья
Информация о цитировании статьи получена из
Web of Science,
Scopus
Статья опубликована в журнале из списка Web of Science и/или Scopus
Дата последнего поиска статьи во внешних источниках: 27 сентября 2019 г.
- Авторы: Goltsov A.Yu, Mukosey I.S., Kochetkova T.O., Shubina J., Kuznetsova M.V., Stupko O.K., Barkov I.Yu, Rebrikov D.V., Trofimov D.Yu
- Журнал: Bulletin of RSMU
- Номер: 3
- Год издания: 2019
- Издательство: Pirogov Russian National Research Medical University
- Местоположение издательства: Moscow
- Первая страница: 15
- Последняя страница: 18
- DOI: 10.24075/brsmu.2019.040
- Аннотация: Timely detection of fetal aneuploidy is an important aspect of clinical practice. At present, analytical techniques involving high-throughput sequencing are on the rise. Noninvasive prenatal testing (NIPT) ensures reliable results as early as week 9–11 into pregnancy. This article describes a clinical case of NIPT application and further verification of its results. Using next-generation sequencing, the microarray analysis of cell-free DNA in the amniotic fluid and the cytogenetic analysis of fetal chromosomes, a high risk of chromosomal rearrangements was detected in the short arms of chromosomes 4 and 12. This prediction was verified by molecular karyotyping conducted in both parents. The mother was found to be a balanced carrier of translocations between chromosomes 4 and 12. This case demonstrates the advantages of a whole-genome approach to NIPT over targeted-based.
- Добавил в систему: Ребриков Денис Владимирович