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

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 clinic...

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Bibliographic Details
Published in:	Bulletin of RSMU no. 3; pp. 15 - 18
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	01-07-2019
Online Access:	Get full text
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Summary:	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.
ISSN:	2500-1094 2542-1204
DOI:	10.24075/brsmu.2019.040