Genetic Analysis In 14 Cases With Product Of Concepts By Trio Whole Exome Sequencing

Objectives: Whole exome sequencing technology can identify the undiscovered genetic etiology of product of concepts(POC) and improve the diagnosis rate of abortion.This study examines the value of a combined trio-WES strategy in identifying the etiology of abortion in the case of negative karyotype and chromosomal microarray sequencing. Design: A retrospective study Setting: Center of Prenatal Diagnosis Sample: Fourteen abortion samples with normal karyotype analysis and CMA Methods: In this study, Trio-WES was used to sequence 14 POC with normal CMA and karyotype analysis, and to evaluate the detection rate of abnormal abnormalities and the diagnostic value of variation. Main outcome measures: The detection rate of gene mutation sequence in flow products, the definite diagnosis rate of single gene disease and its relationship with clinical phenotype Results A total of 10 variants of 7 genes were detected, including 2 pathogenicity variant, 4 likely pathogenicity variant and 4 uncertain significance variant. Four families were accepted as positive results, with a definite diagnosis rate of 28.6% (4/14). Case 1 was type 4 of autosomal dominant polycystic kidney disease caused by complex heterozygous variation of PKHD1 gene, Case 2 was Alagille syndrome caused by heterozygous variation of JAG1 gene, Case 5 and Case7 were type 3 of short rib dysplasia caused by complex heterozygous variation of DYNC2HI gene. Conclusions These data support the application value of whole exome sequencing technology in the detection of abortion etiology and enhance the understanding of pathogenicity variation. Funding: National Key Research and Development Program (2018YFC1002203-2);