Application of whole⁃genome chromosomal microarray analysis in genetic diagnosis of spontaneous miscarriages and stillbirths
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    Abstract:

    Objective:To investigate the clinical value of whole-genome chromosomal microarray analysis(CMA)in the genetic diagnosis of chorionic villi and stillbirths and the relationship between spontaneous miscarriage and chromosomal aberrations,and to provide genetic counseling for couples with spontaneous abortion. Methods:A total of 91 abortion samples were tested by Affymetrix Cytoscan 750 K and analyzed with Chromosome Analysis Suite(ChAS)software. The detected copy number variations(CNVs)were aligned with public literatures and known CNVs listed in databases,such as DGV,DECIPHER,OMIM,ISCA,UCSC,and ClinVar. Results:All 91 cases(100%)were successfully detected,among which 61(67.03%)were chromosomal abnormalities. Forty(65.57%)of the 61 specimens were aneuploidy(30 trisomy and 10 monosomy),10 specimens(16.39%)were structural anomalies,2 specimens(3.28%)were polyploid,5 specimens(8.20%)were mosaicisms,and 4 specimens(6.56%)showed loss of heterozygosity or uniparental disomy. The structural anomalies were identified in 10 patients,which involved microdeletions and microduplications on 1p36.33p31.1,4p16.3,7q36.2q36.3,22q11.21,and four cases with small segmental deletion and duplication at the terminal end of the long and short arm of two chromosomes,which highly indicated that one of their parents could be carriers of submicroscopic reciprocal translocation. Conclusion:Whole-genome chromosomal microarray analysis could be used as a first-line method for genetic diagnosis of the miscarriages,due to its high-throughput,high resolution,high-accuracy,rapid-analysis and without cell culture. The identification of the cytogenetic cause of spontaneous miscarriage can facilitate estimation of recurrence risks for future pregnancies. It can be used as the main detection technique for genetic diagnosis of abortions.

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钱芳波,沈 晔.全基因组染色体芯片在流产绒毛及死胎遗传学诊断中的应用[J].南京医科大学学报(自然科学版英文版),2018,(11):1586-1592.

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  • Received:April 03,2018
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  • Online: December 03,2018
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