Juan Eduardo Anguiano Franco
VIDA Instituto de Ciencias, MexicoPresentation Title:
Prevention of tuberous sclerosis via PGT-M and DUOSTIM: A successful clinical case
Abstract
Background: Tuberous sclerosis complex (TSC) is a genetic disorder with autosomal dominant inheritance, characterized by hamartomas in multiple organs, including the brain, skin, kidneys, and heart. It is commonly associated with mutations in the TSC1 or TSC2 genes. Preimplantation genetic testing for monogenic diseases (PGT-M), combined with testing for aneuploidies (PGT-A), is a useful strategy to prevent vertical transmission in affected families.
Objective: To present a successful clinical case using PGT-M and PGT-A in a couple where the male partner carries pathogenic variants in the TSC2 gene (c.5138G>A and c.5068+17_5068+50del), with a positive family history of the disease.
Materials and Methods: A 35-year-old woman with low ovarian reserve (AMH 0.8 ng/ml) underwent in vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI). A double ovarian stimulation protocol (DUOSTIM) was used within the same menstrual cycle to maximize oocyte yield. A total of 15 mature oocytes were retrieved (4 from the first stimulation and 11 from the second), leading to the development of 12 blastocysts. These were biopsied and analyzed using both PGT-M and PGT-A.
Results: Five blastocysts were found to be euploid and free of the TSC2 mutation. A double embryo transfer was performed, resulting in a successful twin pregnancy. Two healthy, unaffected newborns were delivered.
Conclusion: This case demonstrates that the combined use of DUOSTIM, PGT-M, and PGT-A is effective in preventing the transmission of tuberous sclerosis while optimizing IVF outcomes in poor responders. The integration of advanced reproductive and genetic technologies allows for safe and informed reproductive choices in families affected by monogenic diseases.
Biography
Juan Eduardo Anguiano Franco MD is an Obstetrician and Gynecologist in Leon, Guanajuato, Mexico. Graduated from the University of Guanajuato and with post-graduate qualification in Reproductive Sciences at Instituto Vida endorsed by Antonio Martin Gutierrez Gutierrez. His clinical activity covers all the field of Reproductive Medicine and Surgery and has taken part in hundreds of IVF, laparoscopic and hysteroscopic surgical procedures. He is currently professor of Reproductive sciences at the Department of Obstetrics and Gynecology within High Specialty Medical Unit Hospital #48 IMSS. Present scientific interests include: Male factor, IVF and PGT.
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