AB011. Preimplantation genetic diagnosis—experience from Hong Kong

Abstract: Preimplantation genetic diagnosis (PGD) is a technology used to determine whether a genetic or chromosomal disorder is present in embryos during an in-vitro fertilization (IVF) cycle. PGD screens embryos prior to their transfer to the uterus. Initially, PGD was developed to detect early onset life threatening single gene disorders for couples who are aware of their hereditary risks through family history or based on carrier testing. Since then, the use of PGD has expanded to detect late onset disorders such as Huntington disease and hereditary cancer predisposition syndromes. PGD treatment has been available in Hong Kong since 2002. In Hong Kong, couples seeking PGD treatment are required to see two doctors, one of whom must have proper training in clinical genetics and/or genetic counselling. The purposes of genetic counselling include educating patients about the genetic condition and ensuring that patients are given informed choices on the available options. PGD can provide reassurance of having healthy children for couples at high risks passing the genetic change. Yet there are more ethical concerns when the requests become increasingly complex. Multidisciplinary PGD board meeting has a key role in cases with ethical concerns. We illustrate with case examples the practice of PGD-related genetic counselling in Hong Kong.

Keywords: Preimplantation genetic diagnosis (PGD); genetic counselling; in-vitro fertilization (IVF)