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[Preimplantation genetic diagnosis. The first experiences in Denmark]
H J Ingerslev1, J Hindkjaer, C Jespersgaard
1Center for Praeimplantationsdiagnostik ved Arhus Universitetshospital, Arhus Universitetshospital, Skejby Sygehus, Fertilitetsklinikken.
Ugeskrift for Laeger
|October 17, 2001
Summary
Preimplantation genetic diagnosis (PGD) offers families a way to avoid passing on serious inherited diseases. This IVF-based technique enables the transfer of healthy embryos, preventing pregnancy termination.
Area of Science:
- Reproductive Medicine
- Medical Genetics
Context:
- Preimplantation genetic diagnosis (PGD) provides an alternative to prenatal diagnosis for families at risk of serious inherited diseases.
- The procedure involves in vitro fertilization (IVF) and genetic analysis of embryos before implantation.
- This method aims to prevent the birth of children with genetic disorders and avoid pregnancy termination.
Purpose:
- To describe the activities and outcomes of the Centre for Preimplantation Genetic Diagnosis at Aarhus University Hospital.
- To evaluate the effectiveness of PGD using fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) techniques.
- To assess pregnancy rates in PGD cycles for specific genetic conditions.
Summary:
- The center performed 20 PGD cycles using FISH for sex selection (hemophilia, Duchenne's muscular dystrophy, translocations) and PCR for cystic fibrosis.
- Fifteen cycles resulted in the transfer of healthy or carrier embryos.
- Six embryo transfers (40%) led to a positive pregnancy test, with two subsequent clinical pregnancies.
Impact:
- PGD offers a viable option for couples seeking to avoid passing on specific genetic diseases, especially when abortion is not an acceptable choice.
- The reported pregnancy rates are comparable to standard IVF, though cycle numbers are small.
- This technology empowers families to make informed reproductive decisions and achieve healthy pregnancies.