The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations
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...
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| Format: | Article |
| Language: | Russian |
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IRBIS LLC
2020-10-01
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| Series: | Акушерство, гинекология и репродукция |
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| Online Access: | https://www.gynecology.su/jour/article/view/793 |
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| author | J. K. Kievskaya I. V. Kanivets E. V. Kudryavtseva D. V. Pyankov S. A. Korostelev |
| author_facet | J. K. Kievskaya I. V. Kanivets E. V. Kudryavtseva D. V. Pyankov S. A. Korostelev |
| author_sort | J. K. Kievskaya |
| collection | DOAJ |
| description | 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 |
| format | Article |
| id | doaj-art-cc897afcbb624795967459569a5fc0cd |
| institution | DOAJ |
| issn | 2313-7347 2500-3194 |
| language | Russian |
| publishDate | 2020-10-01 |
| publisher | IRBIS LLC |
| record_format | Article |
| series | Акушерство, гинекология и репродукция |
| spelling | doaj-art-cc897afcbb624795967459569a5fc0cd2025-08-20T03:19:14ZrusIRBIS LLCАкушерство, гинекология и репродукция2313-73472500-31942020-10-0114444945610.17749/2313-7347/ob.gyn.rep.2020.160578The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformationsJ. K. Kievskaya0I. V. Kanivets1E. V. Kudryavtseva2D. V. Pyankov3S. A. Korostelev4Genomed LTDGenomed LTD; Russian Medical Academy of Continuous Professional Education, Health Ministry of Russian FederationUral State Medical University, Health Ministry of Russian FederationGenomed LTDGenomed LTDIntroduction. 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 karyotypinghttps://www.gynecology.su/jour/article/view/793chromosomal microarray analysisprenatal diagnosiscongenital malformations of the central nervous system |
| spellingShingle | J. K. Kievskaya I. V. Kanivets E. V. Kudryavtseva D. V. Pyankov S. A. Korostelev The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations Акушерство, гинекология и репродукция chromosomal microarray analysis prenatal diagnosis congenital malformations of the central nervous system |
| title | The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations |
| title_full | The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations |
| title_fullStr | The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations |
| title_full_unstemmed | The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations |
| title_short | The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations |
| title_sort | use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations |
| topic | chromosomal microarray analysis prenatal diagnosis congenital malformations of the central nervous system |
| url | https://www.gynecology.su/jour/article/view/793 |
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