Decisions About Confirmatory Prenatal Testing Following Preimplantation Genetic Diagnosis

Investigators: Tenielle Davis (1), A/Prof Luk Rombauts (1,2), Caroline Motteram (1)

1 Monash IVF, Clayton; 2 Monash Dept Obstetrics and Gynaecology

Preimplantation genetic diagnosis (PGD) is the process of genetically screening an embryo for either the correct chromosome complement or a specific inherited disorder to selectively transfer the genetically desired embryos to establish a healthy pregnancy. All couples who have PGD at Monash IVF are recommended to have prenatal diagnosis in a pregnancy following PGD. Testing of an established pregnancy, either by chorionic villus sampling from 12 weeks gestation, or by amniocentesis (at 15-17 weeks gestation) are the diagnostic prenatal tests (PNT) that offer a definitive genetic result for the fetus. Both of these procedures are invasive and have a very small risk of miscarriage associated with them (1% and 0.5% respectively). This study surveyed couples who had a baby born following PGD between 2007 and 2012 to determine if they proceeded with confirmatory PNT as recommended and their reasons for doing so. This information will further enhance the service, advice and support given to couples undergoing PGD.

Recruitment for this project has now completed and the results are currently being prepared for publication.


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