Karyotyping and PGT-SR help couple achieve live birth after 20 years of infertility

A recent case report describes how a couple struggling with male factor infertility achieved a successful pregnancy after detecting a balanced translocation in the male partner and using PGT-SR.

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As reported by Upadhyay et al. (2024), a couple with male factor infertility went to the Al Ain Fertility Center in the United Arab Emirates after 10 unsuccessful IVF cycles and 20 years of infertility. The female was 37 years old and the male partner was 40, whose semen analysis revealed severe oligoasthenoteratozoospermia (abnormalities in sperm count, motility, and morphology).

As part of the clinic’s workup, the couple had a high resolution blood karyotype to investigate potential genetic causes of infertility. The female had a normal karyotype, but the male partner’s karyotype revealed a complex chromosomal rearrangement involving chromosomes 3, 4, and 12, designated as t(3;4;12)(q21;q33;q21) — the translocations occurred at 3q21, 4q33, and 12q21.

This translocation was balanced, meaning that no genetic material was missing or duplicated, and as a result, he showed no physical issues and was unaware he had the translocation. However, during sperm formation, these rearranged chromosomes can separate to form sperm cells that are unbalanced. This could result in embryos with missing or extra genetic material, which increases the risk of implantation failure or miscarriage. For more information on translocations, visit the glossary definition.

Given these findings, the medical team recommended PGT-SR to screen embryos for chromosomal imbalances and select those that were either euploid or balanced.

The couple proceeded with eight additional IVF cycles. Across these cycles, 20 embryos were biopsied and tested through PGT-SR. Of these 20 embryos, 14 of them had either whole or segmental aneuploidies involving chromosomes 3, 4 and 12. Only one embryo was found to be balanced and euploid, making it the only viable embryo for transfer.

After transfer, the patient had a positive pregnancy! The pregnancy progressed uneventfully to full term, and the baby was delivered via cesarean section. Postnatal karyotyping confirmed that the newborn had a normal chromosomal complement, 46,XX.

This case study highlights the importance of karyotyping and PGT-SR in cases of recurrent implantation failure. Karyotyping can reveal balanced translocations that may otherwise go undetected, that can be resolved by using PGT-SR and transferring unaffected or balanced embryos.

Some forms of male factor infertility can have a strong genetic component, with about 25% of nonobstructive azoospermia (no sperm) patients having a genetic link (Krausz et al. 2018). Because of this, the authors and call for routine karyotyping and counselling before infertility treatment, particularly for male patients with oligozoospermia, oligoasthenoteratozoospermia, or nonobstructive azoospermia.