Open AccessDetection of chromosomal rearrangements in the short arms of chromosomes 4 and 12 as an example of a whole-genome approach to noninvasive prenatal testing
Author(s) -
Alexei A. Goltsov,
I. S. Mukosey,
Taisiya O. Kochetkova,
Jekaterina Shubina,
Maria V. Kuznetsova,
Olga K. Stupko,
I. Yu. Barkov,
Denis V. Rebrikov,
Trofimov D.Yu. Trofimov
Publication year - 2019
Publication title -
bulletin of russian state medical university/bulletin of rsmu
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.14
H-Index - 3
eISSN - 2542-1204
pISSN - 2500-1094
DOI - 10.24075/brsmu.2019.040
Subject(s) - karyotype , chromosomal translocation , aneuploidy , computational biology , massive parallel sequencing , dna sequencing , genome , biology , genetics , chromosome , prenatal diagnosis , obstetrics , dna , fetus , medicine , gene , pregnancy
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.