Study of Spectrum of Chromosomal Rearrangements in Recurrent Pregnancy Loss

Area of Science:

• Reproductive genetics
• Human cytogenetics

Background:

• Recurrent pregnancy loss (RPL) affects 1-2% of women, with 5-10% experiencing repeated losses.
• Chromosomal rearrangements are found in 6.65% of couples with RPL, and 2-4% are linked to parental translocations.

Purpose of the Study:

• To investigate the prevalence and types of cytogenetic alterations in couples with recurrent pregnancy loss.
• To determine if these alterations are associated with later gestational miscarriages and younger maternal age.

Main Methods:

• Cytogenetic analysis was performed on 198 couples with a history of recurrent pregnancy loss.
• Study participants were recruited from a tertiary care hospital in New Delhi.

Main Results:

• Of 198 couples analyzed, 14 (7.1%) exhibited cytogenetic alterations.
• Structural rearrangements, especially reciprocal translocations, were the most common aberrations found.
• All identified alterations occurred in mothers aged 35 years or younger, or in both parents.

Conclusions:

• Cytogenetic alterations are significant factors in recurrent pregnancy loss, extending beyond first-trimester miscarriages.
• These findings emphasize the importance of cytogenetic evaluation in young mothers experiencing recurrent pregnancy loss at any gestational stage.