Mechanism of recurrent spontaneous abortions in women with mosaicism of X-chromosome aneuploidies

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Abstract

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.

Original languageEnglish
Pages (from-to)1594-1601
Number of pages8
JournalFertility and Sterility
Volume82
Issue number6
DOIs
Publication statusPublished - 2004 Dec 1

Fingerprint

Habitual Abortion
Mosaicism
X Chromosome
Aneuploidy
Spontaneous Abortion
Induced Abortion
Chromosome Aberrations
Abnormal Karyotype
Incidence
Karyotype
Oocytes
Case-Control Studies
Lymphocytes
Control Groups
Ovarian Reserve

All Science Journal Classification (ASJC) codes

  • Reproductive Medicine
  • Obstetrics and Gynaecology

Cite this

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abstract = "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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Mechanism of recurrent spontaneous abortions in women with mosaicism of X-chromosome aneuploidies. / Kuo, Pao-Lin; Guo, How-Ran.

In: Fertility and Sterility, Vol. 82, No. 6, 01.12.2004, p. 1594-1601.

Research output: Contribution to journalArticle

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