In a groundbreaking medical milestone, doctors have reported the first successful live birth through in vitro fertilization (IVF) in a woman diagnosed with Alström syndrome (AS), a very rare genetic disorder.
Alström syndrome, inherited in an autosomal recessive pattern, often presents significant fertility challenges for affected women, and until now, no documented pregnancies resulting from IVF had been recorded.
This case involved an infertile woman with AS who underwent two rounds of intracytoplasmic sperm injection (ICSI) combined with preimplantation genetic testing for aneuploidies (PGT-A). This process identified a genetically normal (euploid) blastocyst, which was then transferred, leading to a confirmed clinical pregnancy.
Throughout the pregnancy, the woman faced complications, including gestational diabetes and chronic hypertension. Thanks to careful, multidisciplinary medical management, these conditions remained under control. At 38 weeks, she delivered a healthy baby weighing 3110 grams.
This successful birth demonstrates that IVF can be a viable fertility option for women with Alström syndrome, provided there is continuous, comprehensive care to manage related health risks.
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