Observational studyBMC pregnancy and childbirth2025
Fertility issues and pregnancy outcomes in females with partial X-chromosome deletions: a retrospective observational cohort study.
Observational study in BMC pregnancy and childbirth, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundTo investigate fertility challenges, factors influencing spontaneous pregnancy, and pregnancy outcomes in females with partial X-chromosome deletions, and to provide evidence for genetic counseling.
methodsA retrospective analysis of 101,018 individuals who underwent peripheral blood karyotype analysis was performed; females with partial X-deletions or 45,X karyotype were identified. Follow-up was conducted for females aged ≥ 15 years as of 2025. Clinical phenotypes were compared between females with partial X-deletions and those with homozygous 45,X karyotype. Females with partial X-deletions were stratified into spontaneous pregnancy and non-spontaneous pregnancy groups to identify predictive factors. Pregnancy outcomes were compared with 130 pregnant women with normal karyotype, with postnatal infant follow-up conducted.
results68 partial X-deletion and 55 45,X cases were followed up. It revealed significantly higher rates of spontaneous menarche, normal uterine/ovarian ultrasound findings, and conception probability in partial X-deletion group (p < 0.05/p < 0.01). Among 68 females with partial X-deletions, 23 successfully delivered. Spontaneous pregnancy was significantly associated with earlier menarche and normal ultrasound findings (p < 0.05), while mosaicism without normal karyotypes and increased infertility-related gene deletions were adverse factors (p < 0.001). Compared with pregnant women with normal karyotypes, elevated rates of assisted reproductive technology utilization and cesarean section were observed (p < 0.05), with significantly increased abnormal fetal screening results (p < 0.001). Postnatally, 15 of 27 fetuses (55.6%) inherited maternal chromosomal abnormalities; 10 exhibited clinical phenotypes including one severe case.
conclusionsThis study is a preliminary exploration focusing on reproductive issues in females with partial X-chromosome deletions. These females face significant reproductive challenges, with infertility being the primary one. However, they have a significantly higher probability of spontaneous conception compared with females with a homozygous 45,X karyotype. Their offspring have a high probability of inheriting the maternal abnormal X-chromosome and often present with clinical phenotypes of varying severity. Larger cohort validation and long-term follow-up are necessary to further validate these findings.
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