Chromosome abnormalities in 150 couples with multiple spontaneous abortions

Area of Science:

• Reproductive genetics
• Human cytogenetics

Background:

• Recurrent pregnancy loss (RPL) affects a significant number of couples.
• Identifying underlying causes of RPL is crucial for effective management.
• Chromosomal abnormalities are a known, but variably reported, factor in RPL.

Purpose of the Study:

• To investigate the incidence of chromosomal aberrations in couples with a history of recurrent abortions.
• To determine if specific pregnancy outcomes (fetal death, malformations, healthy infants) correlate with chromosomal abnormalities.

Main Methods:

• Cytogenetic evaluation using G-banding was performed on 150 couples with recurrent abortions.
• Couples were categorized based on pregnancy history, including pure abortions, abortions with fetal deaths or malformations, and abortions with healthy infants.

Main Results:

• Seven couples (4.7%) exhibited a chromosomal aberration in one partner, including translocations, inversion, and gonosomal mosaicism.
• The incidence of chromosomal abnormalities was 2.9% in couples with a history of pure abortions.
• A high incidence of chromosomal rearrangements was observed in couples with abortions accompanied by fetal deaths or malformations.
• Notably, a high rate of cytogenetic abnormalities was also found in couples with abortions and subsequent healthy infants, contrasting with previous reports.

Conclusions:

• Chromosome analysis is a vital diagnostic tool for evaluating couples with recurrent fetal wastage.
• The study underscores the significant role of chromosomal rearrangements in various RPL scenarios, including those with seemingly healthy infant outcomes.
• Further investigation into the specific types and implications of these rearrangements is warranted.