January 17th, 2021

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Analysis of Genetic Factors in 600 Patients with Missed Abortion in China
Authors:  Wang Qin Feng, M.D., Su Wen Chen, M.D., Shu Ying Wu, M.D., Yan Ming Chen, M.D., and Cheng Hong Yin, M.D., Ph.D.
  OBJECTIVE: To assess if missed abortions are associated with chromosomal aberrations, FMR1 gene abnormalities, and maternal age.

STUDY DESIGN: Women with delayed miscarriage, with no disease during pregnancy, were included in the study. The embryonic karyotypes, chromosomal abnormalities, FMR1 gene, and maternal age were analyzed via blood and chorionic villi samples obtained from parents.

RESULTS: Miscarriage was mainly caused by embryonic chromosomal abnormalities. There was no statistically significant difference between embryo chromosome abnormality and the number of pregnancies, number of deliveries, miscarriage times, and induced abortion times. Only the maternal age had a close relationship with embryo chromosome abnormality (p<0.01). The rate of chromosomal abnormalities in older women was significantly higher than that in younger women, whereas that of monosomy X occurrence was significantly higher in younger women. Rate of trisomy abnormalities increased with increasing maternal age. The most frequent abnormal maternal/paternal karyotype was human inversion (p12; q13). No significant associations were found between CGG repeat length and missed abortions among non-trisomy abnormalities, trisomy abnormalities, or chromosomally normal losses or between intermediate CGG repeat length and trisomy/non-trisomy abnormalities.

CONCLUSION: Maternal age is an important factor affecting chromosomal anomalies. Abnormal maternal/paternal karyotypes may cause missed abortion. The CGG repeat length was not associated with the trisomy risk in missed abortions among Chinese women.
Keywords:  abortion, missed; age factors; CGG repeat; chorionic villus sampling; chromosome aberrations; chromosome abnormalities; DNA mutational analysis; FMR1 gene; FMR1 protein, human; fragile X mental retardation protein/genetics; genetics; karyotyping; maternal age; risk factors; translocation, genetic; trisomy; trisomy 21
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