Case of successful pregnancy in first embryo transfer cycle at Sunflower Women’s Hospital in a patient With husband k/c/o Achondroplasia(PGT.M/A FOR ACHONDROPLASIA)
A 30-year-old woman, married for six years, approached us with a history of primary infertility. Her husband was diagnosed with achondroplasia and severe oligoasthenoteratozoospermia. Despite these challenges, her blood tests and ultrasound results were normal, showing a healthy uterus and ovaries.
To improve the husband’s sperm count, we prescribed oral antioxidants and hormonal supplements. Both underwent genetic counseling, and their karyotype reports came back normal. Given that achondroplasia is an autosomal dominant disease, targeted mutation analysis identified the common gene (FGFR3).
Following the genetic counselor’s advice, we proceeded with IVF using the couple’s own eggs and sperm, along with preimplantation genetic diagnosis (PGD). We began her stimulation with recombinant FSH, and the couple underwent ICSI with PGT.M. This resulted in the formation of four high-quality day 5 blastocysts. After PGD, three embryos were found to be abnormal, but one healthy embryo was transferred during the frozen embryo transfer (FET) cycle.
The patient conceived on the first attempt. The couple was overjoyed and could hardly believe that their six-year journey to achieve a pregnancy had finally come to a joyful conclusion. She delivered a healthy, unaffected baby girl at term.
At Sunflower Women’s Hospital, we are delighted to have been a part of their journey and to have helped them achieve their dream of parenthood.
