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| Genetic analysis of 143 samples of abortive tissue |
| 1. Peking University International Hospital, Beijing, 102206; 2. National Research Institute for Family Planning |
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Abstract Objective: To detect sample of abortive tissue of women with miscarriage during the first and second trimester pregnancy, and to determine the genetic etiology of miscarriage by low coverage whole genome sequencing (WGS) combined with fluorescence quantitative polymerase chain reaction (QF-PCR). Methods: The abortive tissue (143 samples) and peripheral blood (143 samples) of women with miscarriage during the first and second trimester pregnancy were included. QF-PCR was performed to detect maternal cell contamination (MCC) and triploidy. Then, WGS was used to detect samples without MCC. Results: 3 samples with completely MCC and another 3 samples with triploidy were found by QF-PCR, which were all further confirmed by FISH. A total of 53 cases with abnormal result were detected by WGS, which included 43 cases with aneuploidy and 10 cases with copy number variation (CNV). Conclusion: WGS combined with QF-PCR used for detecting abortive tissue of women with miscarriage is quickly and reliable, which is helpful to identify the genetic etiology, and can provide evidence for further fertility guidance.
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