DOI: 10.24075/brsmu.2019.040


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: 15.06.2019

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