Conclusion
In conclusion, whole exome sequencing can find problems that are not
found in karyotypes and CNV-seq, and find out the single gene pathogenic
effect of abortion tissue. Ultrasonography can not predict genetic
etiology, and full exome sequencing is a wise choice for families with
miscarriage, regardless of whether there is an abnormality diagnosed by
ultrasound. It can provide families with counsel and plans for risk
assessment and clinical management of recurrence. In this study, we
identified clear monogenetic diseases in the abortive tissue,
demonstrated that whole exome sequencing is a promising new option in
the field of genetic diagnosis of abortive tissue.