Chromosomal abnormalities in couples with recurrent first trimester abortions.

Area of Science:

• Reproductive Medicine
• Human Genetics
• Cytogenetics

Background:

• Recurrent miscarriage affects couples with unexplained pregnancy losses.
• Chromosomal abnormalities are a potential underlying cause.
• Genetic factors require thorough investigation for effective counseling.

Purpose of the Study:

• To determine the prevalence of chromosomal abnormalities in couples experiencing recurrent first-trimester miscarriages.
• To investigate the association between these abnormalities and miscarriage risk.

Main Methods:

• Karyotyping using Trypsin-Giemsa banding on peripheral blood lymphocytes.
• Analysis of 151 women and 94 partners with recurrent miscarriages and 100 controls.
• Statistical analysis using Student t-test, Mann-Whitney, Kruskal-Wallis, and ANOVA.

Main Results:

• Chromosomal abnormalities found in 7.3% of women and 2.1% of partners with recurrent miscarriages.
• Specific abnormalities included X-chromosome mosaicism, reciprocal translocations, Robertsonian translocations, and inversions.
• Controls showed a 1% rate of mosaicism.

Conclusions:

• A significant association exists between chromosomal abnormalities and recurrent first-trimester miscarriage (OR=7.7).
• Identifying genetic causes provides crucial information for genetic counseling.
• This aids couples in understanding risks and reduces unnecessary investigations.