【摘 要】
：
Copy Number Variation (CNVs) can be identified via single-nucleotide polymorphism (SNP)-based chromosomal microarray analysis (CMA) in fetus with ultrasound abnormality.However, uniparental disomy (UP
【机 构】
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Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes, Key Laborator
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Copy Number Variation (CNVs) can be identified via single-nucleotide polymorphism (SNP)-based chromosomal microarray analysis (CMA) in fetus with ultrasound abnormality.However, uniparental disomy (UPD) events was rarely reported in prenatal cases.In this study, we applied CMA to detect CNVs and UPD events in fetus with ultrasound abnormality.77 of 472 detected prenatal samples were identified with pathogenic or likely pathogenic CNVs, with an abnormal ratio of 16.3%.3 cases with absence of heterozygosity (AOHs) were identified within a total of 472 samples;the ratio of AOHs observed in this study was approximately 0.64%.Of three cases, one had a 38.4-Mb mosaic UPD in the 11p15.4 region, one possessed a 60-Mb detectable UPD between regions 14q13.2 and 14q32.13 and a total sizes of the observed AOH regions in the remaining one is account for 3.4% of the total size of the autosomal length, which demonstrated that the identified AOHs were regions that were identical by descent (IBD) rather than UPDs.As a comparison, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) analysis was performed to validate the variations.In conclusion, SNP-based microarray is an efficient alternative method for quickly and precisely molecular diagnosing in fetus with ultrasound abnormality when considering aberrations due to CNVs events and most types of UPD events.
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