26/08/2026
Facing a rare LZTR1 gene-mutated schwannomatosis, the patient endured years of physical pain and complex surgical interventions across skull-base trigeminal, sciatic, and peripheral nerves since adolescence. Although carrier family members showed no symptoms, the disease’s incomplete penetrance and unpredictable manifestation solidified her resolve to break the cycle of genetic transmission.
Overcoming the challenges of advanced maternal age at 41, a three-year journey yielded 23 retrieved oocytes, from which 5 blastocysts reached testing. Dr. Chi-Huang Chen and the expert team at the Center for Reproductive Medicine, Taipei Medical University Hospital, implemented world-class precision protocols combining PGT-M (Preimplantation Genetic Testing for Monogenic Disorders) with PGT-A (Aneuploidy Screening). Against formidable odds, they successfully identified the single healthy, mutation-free euploid embryo. The subsequent transfer achieved a successful pregnancy.
This milestone demonstrates the center's world-leading expertise in managing complex hereditary conditions, utilizing cutting-edge dual-genetic screening to overcome maternal age hurdles and permanently rewrite family destiny.
gene mutation Medicine Medical University Hospital -Huang Chen