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Genetic analysis of first‐trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH
Author(s) -
Zhang YX,
Zhang YP,
Gu Y,
Guan FJ,
Li SL,
Xie JS,
Shen Y,
Wu BL,
Ju W,
Jenkins EC,
Brown WT,
Zhong N
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01131.x
Subject(s) - genotyping , karyotype , biology , products of conception , miscarriage , comparative genomic hybridization , microsatellite , genetics , microarray , polymerase chain reaction , chromosome , pregnancy , genotype , abortion , gene , allele , gene expression
Miscarriage is the spontaneous loss of an embryo or fetus before the 20th week of pregnancy. Most miscarriages occur before the end of the first trimester (<13 weeks). Although many risk factors relate to this occurrence, genetic factors play the most important role. Chromosomal abnormalities, including both numerical and structural anomalies, underlie the majority of miscarriages. In this study, we employed a comprehensive approach using cytogenetic karyotyping, polymerase chain reaction (PCR)‐based genotyping, and microarray‐based comparative genomic hybridization (arrayCGH) in combination to analyze chromosomal profiles of 115 first‐trimester miscarriages of Chinese women. Seventy cases (61%) were found to have chromosomal anomalies, of which 90% were numerical and 10% were structural. Cytogenetic karyotyping identified 78.6% (55/70), PCR assays 2.9% (2 triploids), and arrayCGH 18.6% (13/70) of the anomalies. In this study, a microdeletion of 108 kb and four microduplications sizing from 300 to 1460 kb were observed. An advantage of using this combination approach is that microsatellite genotyping and arrayCGH can be accomplished in spite of culture failure and maternal cell contamination. In addition, arrayCGH can detect submicroscopic chromosomal anomalies and gene dosage alterations.