APPLICATION OF CHROMOSOMAL MICROARRAY ANALYSIS WHOLE-EXOME SEQUENCING IN PRENATAL DIAGNOSIS OF RATE DISEASES
Objective To explore the diagnostic approach of prenatal rare diseases.Methods 4845 preg-nant women with prenatal diagnosis indications were enrolled,all fetuses underwent CMA for CNV detec-tion,68 of them accepted WES after excluding aneuploidy and abnormal CNV.Results 4842 samples were successfully tested by CMA,and detected 537 cases of chromosomal abnormalities(11.09%).Of them,370 cases were identified as pathogenic variations,including 214 cases of aneuploidy,134 cases of patho-genic CNV and 22 cases of CNV mosaicism.The detected diseases mainly included 1q21 deletion syndrome(7),DiGeorge syndrome(6),17q12 deletion syndrome(6),Cri-du-chat syndrome(5)and 16p11.2 dele-tion syndrome(5).WES results showed that 13 cases of single gene diseases(19.12%)were detected in 68 fetuses with negative CMA results.Conclusion CMA and WES are effective methods for interpreting the fetal genetic etiology and prenatal diagnosis.
万方数据
维普
