Preimplantation genetic diagnosis

Preimplantation Genetic Diagnosis (PGD) involves a partial study of the genetic makeup of an embryo prior to being transferred to the maternal uterus. This technique is not routinely performed, except in cases where there is a high risk of embryos being affected by a genetic or chromosome disorder.

PGD involves a chromosome and genetic study of embryos prior to implantation, with the aim of only placing in the uterus embryos which are “healthy” in terms of the disorders studied. The most common disorders studied are Down’s Syndrome, Edwards’ Syndrome, sex chromosome disorders, such as Turner’s Syndrome, and monogenic disorders, such as cystic fibrosis, Duchenne muscular dystrophy, etc. It can also include sexing to prevent genetic disorders linked to a particular sex.

This type of treatment is recommended for couples who are carriers or sufferers of a genetic or chromosome disorder, and hence are at risk of transferring the disorder to their children. In some cases, it is also recommended to recurrent miscarriage sufferers or older women, given the increased risk of chromosome disorders in the child.

Throughout this process, clinical specialists and embryologists are required, as well as specialised geneticists, who study each case individually.

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