Prenatal CMA Findings in Urinary System Malformations Fetuses with Normal Karyotype
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AbstractFetal urinary system malformation, accounts for one third of all congenital malformations detected by routine fetal ultrasonography. Also known as congenital anomalies of kidney and urinary tract (CAKUT) are observed in 0.3 to 0.6% of live births and accounts for 40 to 50% of the etiology of chronic kidney disease in children. Chromosomal microarray analysis (CMA) has been proven to detect submicroscropic genomic imbalances prenatally because of its high-resolution and time-saving. However, prenatal studies on isolated or syndromic CAKUT and its advantage over traditional cytogenetics are limited. In this study, we aimed to investigate the diagnostic performance of CAKUT among prenatal cases with normal karyotype. Methods: This study recruited 108 prenatal samples, with detailed documented ultrasound fi ndings and CMA results from four prenatal diagnosis centers. Pathogenic copy-number variants (CNVs) were identifi ed based on the American College of Medical Genetics guideline. Results: The overall detection rate was 9.2% (10/108) for pathogenic CNVs by CMA. The extra diagnostic yield compared with karyotype was 1.7% (1/60) for the isolated CAKUT, and 18.7% (9/48) for the syndromic group. The incidence of pathogenic CNV is signifi cantly diff erent (p<0.05) between the isolated group and syndromic group. Conclusion: This study shows the improved diagnostic yield by CMA in prenatal CAKUT, compared with conventional karyotyping, with or without syndromic anomalies. Our data supports that CMA should be provided in prenatal diagnosis as a fi rst-tier test for fetus with urinary system malformations. The pathogenic CNVs identifi ed help to provide further understanding of the pathogenesis of the urinary system malformations and CNV spectrum
All Author(s) ListWang H, Dong Z, Chen M, Xiong L, Song Y, Lou J, Kwok Y, Choy K
Name of Conference2016 American Society of Human Genetics Annual Meeting
Start Date of Conference18/10/2016
End Date of Conference22/10/2016
Place of ConferenceVancouver
Country/Region of ConferenceCanada
Year2016
LanguagesEnglish-United States

Last updated on 2018-22-01 at 09:21