Copyright: © 2019 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).

CLINICAL CASE

Detection of chromosomal rearrangements in the short arms of chromosomes 4 and 12 as an example of a whole-genome approach to noninvasive prenatal testing

About authors

Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia

Correspondence should be addressed: Andrey Yu. Goltsov
Akademika Oparina 4, Moscow, 117997; moc.liamg@vostlog.yerdna

About paper

Author contribution: Goltsov AYu, Mukosey IS — noninvasive prenatal screening; Shubina J, Kochetkova TO — data analysis; Kuznetsova MV — microarray analysis; Stupko OK — cytogenetic chromosome analysis; Barkov IYu — genetic counseling; Trofimov DYu, Rebrikov DV — manuscript writing, study supervision.

Received: 2019-05-24 Accepted: 2019-06-08 Published online: 2019-06-15
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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.

Keywords: aneuploidy, noninvasive prenatal testing, syndrome, invasive diagnostic test, combined screening

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