Strengths and limitations
Although it was not enough to explain the cause of the abortion, But let
professional geneticists give genetic counseling to the patient, and
guide the patient to pay more attention to the monitoring of blood
coagulation indexes in the next pregnancy. In case 3, pregnant women had
two history of unexplained abdominal wall defect inoculation, the second
groups did a copy number variation analysis and found no abnormalities,
multiple miscarriages brought patients with excessive mental pressure,
the exons sequencing did not solve the problem of abortion etiology, but
provide the patients with genetic counseling and guidance. In the past,
full exome sequencing was not selected because of its long cycle time
and high cost. However, in this study, the turnaround time from DNA
extraction to the release of scientific research report was 2-3 weeks,
which was greatly shortened. The overall positive detection rate was
28.6%, and in 8 cases with definite ultrasound abnormalities, the
detection rate was as high as 50% (4/8).The report of uncertain
significance mutation is a problem. In this study, combined with
ultrasound and family history, we reported on the mutations of uncertain
significance associated with clinical phenotypes, at the same time,
because this study focuses on stillbirth or with abnormal ultrasonic
induced labor flow product of single gene of pathogenic factors,
Pathogenic variants unrelated to phenotypes that cause severe disease in
the neonatal period were not reported in this study. The sample size of
this study was too small to fully assess the genetic factors of
miscarriage.