The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations
Abstract
Introduction. The prevalence of congenital malformations (CMFs) in fetal central nervous system (CNS) ranges from 1.5 to 3 % and covers around 29 % among all malformations, whereas percentage in the structure of perinatal and infant mortality reaches 25–26 %.
Aim: to estimate frequency of pathogenic copy number variations (CNVs) in fetuses with congenital malformations of CNS and normal karyotyping cytogenetic analysis.
Materials and Methods. There were enrolled 42 pregnant women underwent invasive prenatal diagnostics in 2013–2019 due to ultrasound detection of congenital CNS defect in fetus. Fetal samples were studied by using chromosome microarray analysis (CMA).
Results. Various pathogenic CNVs were detected in 7 (16.6 %) fetuses with prenatally diagnosed congenital CNS malformations. Non-syndrome pathogenic CNVs were detected in 85.7 %.
Conclusion. Thus, performing chromosome microarray analysis as the first-line assay allows to diagnose not only aneuploidy, but also microdeletion/microduplication, the size of which below resolution threshold for standard cytogenetic karyotyping
About the Authors
J. K. Kievskaya
Genomed LTD
Russian Federation
Russian Federation
Julia K. Kievskaya – MD, Geneticist
bild. 5, Podolskoe Highway, Moscow, 115093, Russia
I. V. Kanivets
Genomed LTD; Russian Medical Academy of Continuous Professional Education, Health Ministry of Russian Federation
Russian Federation
Russian Federation
Ilya V. Kanivets – MD, PhD, Geneticist,
bild. 5, Podolskoe Highway, Moscow, 115093, Russia
2/1 buil. 1, Barrikadnaya Str., Moscow 123995, Russia
E. V. Kudryavtseva
Ural State Medical University, Health Ministry of Russian Federation
Russian Federation
Russian Federation
Elena V. Kudryavtseva – MD, PhD, Obstetrician-Gynecologist, Associate Professor, Department of Obstetrics and Gynecology
3 Repin Str., Еkaterinburg 620219, Russia
D. V. Pyankov
Genomed LTD
Russian Federation
Russian Federation
Denis V. Pyankov – MD, Laboratory Geneticist, Head of Laboratory of Molecular Pathology
bild. 5, Podolskoe Highway, Moscow, 115093, Russia
S. A. Korostelev
Genomed LTD
Russian Federation
Russian Federation
Sergey A. Korostelev – MD, Dr Sci Med, Professor, Director General
bild. 5, Podolskoe Highway, Moscow, 115093, Russia
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Review
For citation:
Kievskaya J.K., Kanivets I.V., Kudryavtseva E.V., Pyankov D.V., Korostelev S.A. The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations. Obstetrics, Gynecology and Reproduction. 2020;14(4):449-456. (In Russ.) https://doi.org/10.17749/2313-7347/ob.gyn.rep.2020.160
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