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Woman with rare genetic condition gives birth through IVF

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IVF helps in extreme cases where conceiving naturally is next to impossible

Swati suffered from a rare disorder called Swyer syndrome. Women normally have XX karyotype and men have XY. However, a woman with Swyer syndrome has an XY chromosomal makeup, making her a genetically male individual with female external genitalia, vagina, fallopian tubes and a uterus. Such a woman either has no ovaries at all or has ovaries that are not completely developed, thus making it impossible for her to conceive naturally. Swyer syndrome is known to occur in 1 in 80,000 births.

Earlier, Swati was misdiagnosed with testicular feminisation syndrome, a genetic disorder where chromosomally male foetuses become unresponsive to male sex hormones (androgens), leading to the birth of an externally female-looking child with a blind-pouch vagina and with testes inside, but no uterus or fallopian tubes. However in 2015, Dr. Aviva Pinto Rodrigues, Fertility Consultant at Nova IVF Fertility, Bengaluru, found that she had a uterus and diagnosed that what Swati had was Swyer syndrome. This rare form of infertility could be treated with Assisted Reproductive Technology (ART) and Hormone Replacement Therapy (HRT).

After a failed cycle of IVF (in-vitro fertilisation) with donor eggs, Dr. Aviva suggested Endometrial Receptivity Array (ERA), a test that determines the window of implantation in women. Based on the results, a personalised embryo transfer was done, and later Swati conceived and delivered a baby in 34 weeks. Both the mother and the child are healthy and doing well.
Read the story in today’s Bangalore Mirror.

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