E and her husband are both carriers of Usher syndrome gene mutations—E carries the recessive mutation, while her husband carries the dominant one. Concerned about the 50% chance of passing on the genetic condition to their child, they decided to pursue IVF, allowing them to screen embryos before implantation.
Under the guidance of Dr. Chang Fu-Hsuan, E underwent IVF and successfully developed eight blastocysts. These embryos first underwent PGT-M (Preimplantation Genetic Testing for Monogenic disorders), and those that passed were further screened with PGT-A (Preimplantation Genetic Testing for Aneuploidy). Finally, E implanted a blastocyst that passed both tests, and she successfully conceived on the first attempt! She is now 10 weeks pregnant and soon graduating from Gene IVF. 🥳 Wishing them a smooth pregnancy and a healthy baby! 💕
📝 What is PGT-M / PGD (Preimplantation Genetic Testing for Monogenic disorders)?
When one or both partners carry a dominant or recessive single-gene disorder, their child may have a 50% or 25% chance of inheriting the same condition. By performing PGT-M / PGD before implantation, couples can select embryos free from the genetic disorder, significantly reducing the risk of passing it to the next generation.
PGT-M / PGD is a well-established and highly accurate technology, with a precision rate of up to 90%. However, it cannot prevent chromosomal abnormalities, congenital disorders, or other unexpected genetic conditions. Therefore, even after a successful IVF pregnancy with PGT-M / PGD, prenatal checkups remain essential to ensure the baby’s health.☝️