Combined Preimplantation Genetic Diagnosis for a Monogenic Disease and Aneuploidy Screening with Array Comparative Genomic Hybridisation — First Live Birth in Hong Kong and a Review of the Approach

Abstract

Preimplantation genetic diagnosis (PGD) is an alternative of reproductive options of couple with genetic diseases. Alpha-thalassaemia is one of the most common indications  for PGD in our locality. In the past, only target gene location could be detected during PGD treatment. However, after the recent advances in the technique of whole-genome amplification, the addition of aneuploidy screening in the PGD treatment cycles may provide further advantage. It can avoid aneuploidy or other chromosomal abnormalities of the newborn after PGD. We reported our first live birth in Hong Kong after this combination approach. It illustrated that it can be an attractive option for couples with genetic diseases or predisposition to genetic diseases.