TY - JOUR
T1 - Mechanism of recurrent spontaneous abortions in women with mosaicism of X-chromosome aneuploidies
AU - Kuo, Pao Lin
AU - Guo, How Ran
N1 - Funding Information:
Cosponsored by research grants from the National Scientific Council (NSC), Taiwan, Republic of China (NSC 86-2314-B-006-081, NSC 87-2314-B-006-134, NSC 90-2314-B-041-002, NSC 90-2314-B-006-164, NSC 90-2314-B-006-168, NSC 91-3112-B-006-008, and NSC 92-2314-B-006-122). Additionally cosponsored by intramural research grants from the National Cheng-Kung University Medical Center (86-NCUH-026 and 87-NCUH-025), Taiwan, Republic of China.
PY - 2004/12
Y1 - 2004/12
N2 - To investigate the mechanism of recurrent miscarriages in women with mosaicism of X-chromosome aneuploidies. Prospective case-control study. University-based reproductive clinic housed in a medical center with genetic laboratories. Eighteen women who experienced recurrent miscarriages and had mosaicism of X-chromosome aneuploidies; two control groups, one with a balanced structural autosomal rearrangement and the other without chromosomal abnormalities. Criteria were established for the diagnosis of low-grade X-chromosome mosaicism by using peripheral blood lymphocytes. Patients were evaluated for the pathogenesis of recurrent miscarriages. Their abortion rate was assessed, and each abortus was karyotyped. Abortion rate and karyotype of the abortus. In comparison with patients with X-chromosome mosaicism with a balanced structural autosomal rearrangement, patients with X-chromosome mosaicism without a balanced autosomal structural rearrangement 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 autosomal structural rearrangement also had higher incidence of both conditions, but the differences were not statistically significant. At least two factors are implicated in recurrent miscarriages in women with X-chromosome mosaicism. Among them, 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 those 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.
AB - To investigate the mechanism of recurrent miscarriages in women with mosaicism of X-chromosome aneuploidies. Prospective case-control study. University-based reproductive clinic housed in a medical center with genetic laboratories. Eighteen women who experienced recurrent miscarriages and had mosaicism of X-chromosome aneuploidies; two control groups, one with a balanced structural autosomal rearrangement and the other without chromosomal abnormalities. Criteria were established for the diagnosis of low-grade X-chromosome mosaicism by using peripheral blood lymphocytes. Patients were evaluated for the pathogenesis of recurrent miscarriages. Their abortion rate was assessed, and each abortus was karyotyped. Abortion rate and karyotype of the abortus. In comparison with patients with X-chromosome mosaicism with a balanced structural autosomal rearrangement, patients with X-chromosome mosaicism without a balanced autosomal structural rearrangement 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 autosomal structural rearrangement also had higher incidence of both conditions, but the differences were not statistically significant. At least two factors are implicated in recurrent miscarriages in women with X-chromosome mosaicism. Among them, 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 those 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.
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U2 - 10.1016/j.fertnstert.2004.06.042
DO - 10.1016/j.fertnstert.2004.06.042
M3 - Article
C2 - 15589865
AN - SCOPUS:10044294031
SN - 0015-0282
VL - 82
SP - 1594
EP - 1601
JO - Fertility and Sterility
JF - Fertility and Sterility
IS - 6
ER -