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Case Study

Success story of a couple with recurrent pregnancy loss due to abnormal male karyotype

Infertility is a global phenomenon affecting 1 in 6 couples and approximately accounts for 15% of married couples of reproductive ages in India. As male factor infertility attributes to 50% of the cases, they should be evaluated concurrently with women. Although it’s not a life-threatening condition, it has a social stigma in society. But owing to the recent advances made in the field of reproductive medicine, couples can overcome these fertility issues and can achieve the wonderful bond called family.

Shivani a 36-year old woman and her 41-year old husband Praveen were married for 6 years, desperately keen on starting a family, they have been through several fertility treatments in the past but were unsuccessful. The couple had visited the Oasis fertility center in Pune and met our fertility specialist, Dr Nilesh Unmesh Balkawade. The couple had a history of 3 spontaneous recurrent pregnancy loss while undergoing fertility treatments of OI-TI, 5 IUI, and one IVF cycles. They were suggested to undergo routine investigations, which revealed the female partner had uterine polyps.

In view of the advanced age and previous failures, a treatment plan was formulated, where the couple had to undergo genetic analysis which revealed that the Shivani had a normal karyotype but Praveen had an abnormal karyotype of 46 XY 15 ps.

Genetic factors are recognized as a common detrimental factor in the etiology of male infertility, which affects 30% of the population taking fertility treatments. The genetic reasons for infertility are often complex having different consequences, which can be detected only upon evaluation.

Chromosomal abnormalities are one of the major contributing factors to a large volume of recurrent pregnancy loss cases. The cause can be at the chromosome level or involving single or multiple genes or they can be because of chromosomal rearrangements or due to repetitive DNA content which can affect any stage of embryo development. Studies have shown the frequency of the repetitive content in the genome is higher in men than women, which can later be significantly higher in the fetus.

It’s therefore necessary to evaluate the couple’s karyotype, to understand the integrity of the genetic material before treating couples with recurrent pregnancy loss, to identify the cause.

In Shivani and Praveen’s case, once the karyotype was analyzed, a treatment plan was formulated. Their gametes were processed and the resulting embryos were subjected to PGT-A (Pre-implantation genetic testing for aneuploidy- to detect any abnormality in the chromosome number). Later, a hysteroscopic polypectomy was performed on Shivani to remove the uterine polyps, and only the normal PGT embryo was transferred. The embryo transfer was successful, resulting in a conception.

The couple expressed their sincere gratitude towards Dr Nilesh Balkawade & Oasis Fertility for this much-awaited success.

Dr Nilesh UnmeshBalkawade, is an IVF Specialist in Wakad, he offers a decade-long distinctive experience and expertise in the fields of Infertility, Reproductive Medicine, and Gynaec endoscopy. Dr Nilesh is renowned for handling infertile cases with a good success rate and spreading the joy of parenthood to many couples with his expertise & compassionate care.

If you are concerned about chromosomal abnormalities, and want to learn more, our fertility specialists will help you in increasing your chances of conception.

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