Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study
Publication in refereed journal


摘要Purpose: We sought to investigate the utility of chromosomal microarray analysis (CMA) for prenatal diagnosis of oral clefts, as compared with traditional chromosome analysis, for improved prenatal genetic counseling and discovery of a potential correlation between genotype and oral cleft.Methods: This retrospective analysis encompassed 270 prenatal oral cleft cases with documented detailed ultrasound findings and CMA results from four referral centers. Detection rates for pathogenic copy-number variants (CNVs) were calculated and compared with cases for which chromosome analysis was also performed.Results: The overall detection rate was 14.8% (40/270) for pathogenic CNVs by CMA, 7.2% (9/125) for the nonsyndromic cases, and 21.4% (31/145) for the syndromic cases. Of the nonsyndromic cases with ultrasound soft markers, 20% (5/25) were identified with pathogenic CNVs. CMA showed an improved detection rate of 15.3% (29/190) compared with 10.5% (20/190) for chromosome analysis.Conclusion: This study not only highlights the improved detection of chromosomal defects by CMA in prenatal oral clefts but also deepens our understanding of oral clefts. The results suggest that CMA is highly recommended in prenatal invasive genetic testing not only for syndromic oral cleft cases but also for nonsyndromic cases with soft markers. Candidate genes including CRKL, AKAP8, SYDE1, BRD4 are worthy of further investigation regarding their role in human palatogenesis.
著者Cao Y, Li ZH, Rosenfeld JA, Pursley AN, Patel A, Huang J, Wang HL, Chen M, Sun XF, Leung TY, Cheung SW, Choy KW
期刊名稱Genetics in Medicine
出版社Nature Publishing Group: Open Access Hybrid Model Option B
頁次1052 - 1055
關鍵詞aCGH,CMA,copy-number variation,oral cleft,prenatal diagnosis
Web of Science 學科類別Genetics & Heredity;Genetics & Heredity

上次更新時間 2021-13-05 於 01:26