INTRODUCTION
Abortion is the spontaneous loss of an intrauterine pregnancy that is
clinically determined before the fetus has reached viability.1Chromosomal abnormality is the most common cause of
early pregnancy abortion. About 50% of abortions are related to
chromosomal abnormality, which is mainly related to abnormal
number.2 Recurrence of abortion has a variety of
epidemiological factors, including parental or embryonic chromosomal
abnormalities, infections, immune factors, hereditary thrombosis,
uterine abnormalities, endocrine disorders, nutritional and
environmental factors. The detection rate of chromosome abnormality in
convection products by karyotype analysis was 50%, and the detection
rate of pathogenicity copy number variation by chromosome microarray
analysis was about 4%. 3But the cause of the
miscarriage is still unknown in 40 to 50 percent of cases. Whole exome
sequencing (WES) is a genomic analysis technique that utilizes sequence
capture technology to capture and enrich DNA in exon regions of the
whole genome for high-throughput sequencing.4According to previous studies, total exon sequencing is used to find the
etiology of single gene diseases in flow products, and the diagnostic
rate can reach 22%-36%.5Trio -WES was used to
analyze the tissue of 14 aborted patients.