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.