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