To investigate the mechanism of recurrent miscarriages in women with mosaicism of X-chromosome aneuploidies. Prospective case-control study. University-bas ed reproductive clinic housed in a medical center with geneti...To investigate the mechanism of recurrent miscarriages in women with mosaicism of X-chromosome aneuploidies. Prospective case-control study. University-bas ed reproductive clinic housed in a medical center with genetic laboratories. Eig hteen women who experienced recurrent miscarriages and had mosaicism of X-chrom osome aneuploidies; two control groups, one with a balanced structural autosomal rearrangement and the other without chromosomal abnormalities. Criteria were es tablished for the diagnosis of low-grade X-chromosome mosaicism by using perip heral blood lymphocytes. Patients were evaluated for the pathogenesis of recurre nt miscarriages. Their abortion rate was assessed, and each abortus was karyotyp ed. Abortion rate and karyotype of the abortus. In comparison with patients with X-chromosome mosaicism with a balanced structural autosomal rearrangement, pat ients with X-chromosome mosaicism without a balanced autosomal structural rearr angement had a significantly higher incidence of diminished ovarian reserve (DOR ) and had a somewhat higher prevalence of uterine anomalies. In comparison with controls without chromosomal abnormalities, the patients with a balanced autosom al structural rearrangement also had higher incidence of both conditions, but th e differences were not statistically significant. At least two factors are impli cated in recurrent miscarriages in women with X-chromosome mosaicism. Among the m, DOR is the most prevalent (occurring in 44.4%of cases), followed by uterine anomalies (16.7%of cases). Cases with DOR had a higher abortion rate than did t hose without (68.6%vs. 44.1%). Cases with DOR also had a slightly higher rate of abnormal karyotypes in the abortus than did those without (73.7%vs. 42.9%). The oocytes of women with X-chromosome mosaicism are in a suboptimal state of development and are prone to embryonic lethality.展开更多
文摘To investigate the mechanism of recurrent miscarriages in women with mosaicism of X-chromosome aneuploidies. Prospective case-control study. University-bas ed reproductive clinic housed in a medical center with genetic laboratories. Eig hteen women who experienced recurrent miscarriages and had mosaicism of X-chrom osome aneuploidies; two control groups, one with a balanced structural autosomal rearrangement and the other without chromosomal abnormalities. Criteria were es tablished for the diagnosis of low-grade X-chromosome mosaicism by using perip heral blood lymphocytes. Patients were evaluated for the pathogenesis of recurre nt miscarriages. Their abortion rate was assessed, and each abortus was karyotyp ed. Abortion rate and karyotype of the abortus. In comparison with patients with X-chromosome mosaicism with a balanced structural autosomal rearrangement, pat ients with X-chromosome mosaicism without a balanced autosomal structural rearr angement had a significantly higher incidence of diminished ovarian reserve (DOR ) and had a somewhat higher prevalence of uterine anomalies. In comparison with controls without chromosomal abnormalities, the patients with a balanced autosom al structural rearrangement also had higher incidence of both conditions, but th e differences were not statistically significant. At least two factors are impli cated in recurrent miscarriages in women with X-chromosome mosaicism. Among the m, DOR is the most prevalent (occurring in 44.4%of cases), followed by uterine anomalies (16.7%of cases). Cases with DOR had a higher abortion rate than did t hose without (68.6%vs. 44.1%). Cases with DOR also had a slightly higher rate of abnormal karyotypes in the abortus than did those without (73.7%vs. 42.9%). The oocytes of women with X-chromosome mosaicism are in a suboptimal state of development and are prone to embryonic lethality.
