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[X maternal mosaicism and genetic counseling]
A Nivelon-Chevallier1, I Sidaner, F Mugneret
1Centre de Génétique, Hôpital d'Enfants du Bocage, Dijon.
Journal De Genetique Humaine
|August 1, 1988
Summary
Women with X chromosome mosaicism, where abnormal cells are the minority, have a 23% risk of having a child with chromosomal abnormalities. This highlights the need for prenatal diagnosis in these cases.
Area of Science:
- Genetics
- Reproductive Medicine
- Cytogenetics
Context:
- Recurrent miscarriages are a significant concern in reproductive health.
- Gonosomic mosaicism involving the X chromosome affects a subset of women with recurrent miscarriages.
- Abnormal cell lines in X chromosome mosaicism are typically in the minority.
Purpose:
- To investigate the obstetrical outcomes for women with X chromosome mosaicism.
- To determine the risk of chromosomal abnormalities in offspring of mothers with X chromosome mosaicism.
- To evaluate the necessity of prenatal diagnosis for these patients.
Summary:
- A retrospective study analyzed 60 women with X chromosome mosaicism and recurrent miscarriages.
- These women had a 23% incidence of delivering a child with chromosomal abnormalities, including trisomy 21, trisomy 13, and various sex chromosome aneuploidies.
- The findings suggest a potential tendency towards non-disjunction, warranting prenatal diagnosis.
Impact:
- The study raises questions about the representativeness of the patient cohort and the underlying mechanisms (e.g., interchromosomic interactions).
- It emphasizes the need for further multicentric studies to clarify the actual risk of chromosomal abnormalities, especially X aneuploidy, compared to the general population.
- Results support the consideration of prenatal diagnosis for women diagnosed with X chromosome mosaicism.