Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology

Molecular Cytogenetics
Jiandong ShenJiayin Liu

Abstract

About 10 -15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (CVSs) is limited by cell culture and its resolution. This study aimed at evaluating the efficiency of the application of high throughput genetic technology, including array comparative genomic hybridization (array CGH) and next generation sequencing (NGS) on the chromosomal copy number analysis of CVSs from early spontaneous miscarriages. Four hundred and thirty-six CVSs from early spontaneous abortion were collected. Genomic DNA was extracted using a routine method, and the chromosomal copy number variants (CNVs) were analyzed by array CGH and NGS. Two hundred and twenty-five samples (51.6 %) with abnormal chromosomes were identified among 436 samples, of which 188 samples (41.3 %) were aneuploidy, 23 samples (5.3 %) were segmental deletion and/or duplication cases, and 14 samples (3.2 %) were triploid. Two of the three cases with small segmental deletion and duplication were validated to be transferred from their fathers who were carriers of submicroscopic reciprocal translocation. A high chromosomal abnormality detection...Continue Reading

References

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Citations

Jun 12, 2016·American Journal of Medical Genetics. Part a·Kathy HardyTerry J Hassold
Dec 9, 2016·The Journal of Obstetrics and Gynaecology Research·Diana MassalskaTomasz Roszkowski
Aug 1, 2019·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·Yan WangZhengfeng Xu
Oct 17, 2017·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Suzhen QuXiangdong Kong
May 12, 2021·Journal of Cellular and Molecular Medicine·Meiying CaiHailong Huang

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Methods Mentioned

BETA
chip
chromosomal aberration
mFISH

Software Mentioned

BlueFuse Multi
Celloud
InnoScan

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