Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART)

Abstract

Background: World Health Organization estimates that 60-80 million couple world-wide currently suffer from infertility. Recurrent pregnancy loss (RPL) is also another major concern. Chromosomal rearrangements play a crucial role in primary and secondary infertility and RPL. Underlying genetic abnormalities like chromosomal abnormalities contribute to 5-10% of the reproductive failures. The aim of the study was to evaluate the chromosomal abnormalities in infertility and RPL cases to help obstetrician/fertility experts to carry out risk assessment and provide appropriate assisted reproductive techniques for better management of the problem.

Methods: Karyotyping was performed for 414 cases with the history of infertility and RPL over a period of one year. Samples were processed according to procedures of AGT cytogenetic laboratory manual.

Results: Chromosomal abnormalities were observed in 15% of cases. Robertsonian translocation, reciprocal translocation, inversion, derivatives, marker chromosomes, mosaics, aneuploidy and polymorphic variants each contributed 2%, 3%, 3%, 13%, 2%, 10%, 6% and 61%, respectively.

Conclusion: Evaluation of chromosomal abnormalities in couple is warranted prior to planning pregnancy especially for assisted reproductive management cases. Chro-mosomal analysis can be used as one of the diagnostic tools by OBG/IVF specialists in association with geneticist/genetic counselor for proper reproductive counseling and management.