Attitude and concerns of Chinese couples enrolled in the pre-implantation genetic diagnosis program in Hong Kong

Abstract

Background and Objectives: Pre-implantation Genetic Diagnosis (PGD) is an established alternative to prenatal diagnosis to select genetically disease-free embryos in vitro before they are transferred back to the mother, and it has gained acceptance for couples at risk of passing on monogenic diseases and chromosomal abnormalities around the world. More PGD cycles in conjunction with in vitro fertilization (IVF) have been offered to the Asian couples in Hong Kong who are carriers of genetic diseases or chromosomal abnormalities. This study evaluates the attitude and moral concerns towards PGD of the enrolled couples, and their knowledge of their underlying genetic conditions.

Methods: This cross-sectional survey was carried out between June2013 and March 2014. All the couples enrolled in the PGD program at the Queen Mary Hospital were invited to join the study. Total 47 couples and 2 women, whose male partners declined to respond, were recruited. Self-reported structured questionnaires were completed by participating subjects. Statistical analysis was performed to study the attitude and concerns related to different PGD stages, genetic conditions, experience of past pregnancies and sex of the surveyed participants.

Results and discussion: Ninety-six completed questionnaires were analysed with 36.5%from the Pre-PGD group, 31.2%from the PGD Treatment group and 32.5% from the Post-PGD group. There was a trend of increase in psychological stress and concerns related to the IVF/PGD related procedures when couples proceeded from the pre-PGD to the post-PGD stage. A good acceptability of PGD related procedures and similar moral value about the embryo fate, comparable to overseas studies, were observed, except we had a lower percentage of subjects (25%) who expressed no concern about repeated IVF cycles. The worries about the transfer of carrier embryos were high (33%)among couples who are thalassemia carriers. While 15% of the subjects disagreed with termination of pregnancy for a genetically confirmed abnormal IVF/PGD fetus,18% of the subjects could not decide at the time of the study. So counselling support to the couples when they face the above two difficult situations is important. We also found majority of the subjects (76%) optedto tell their children later about their conception. Support for parents to access counseling advice at their preferred time of disclosure is therefore worth considering. Regarding the knowledge of the couples on their underlying genetic conditions, most subjects (95%)knew their carrier status well. Most subjects (89%) with single gene disorder knew their recurrent risk of having an affected baby but only 32% could tell the inheritance pattern. Estimation of recurrent risk is more difficult for the group with balanced chromosomal translocation.

Significance: This first study in Hong Kong on the Chinese couples enrolled in the PGD program highlights the specific concerns of the couples with different underlying genetic conditions at the different stages of PGD. The findings could serve as local reference to guide future studies and the development of PGD counseling services and follow-up for the couples seeking such intervention in the future.