[Preimplantation genetic diagnosis. The first experiences in Denmark].
BACKGROUND
Preimplantation genetic diagnosis (PGD) is a possible alternative to prenatal diagnosis, whereby families with serious inherited diseases can avoid having children with the disease. The genetic diagnosis is performed on embryos before implantation and therefore implies IVF. Hence, PGD offers the possibility of transferring embryos without disease, thereby avoiding termination of pregnancy owing to an affected fetus.


METHODS
Activities at the Centre for Preimplantation Genetic Diagnosis at Aarhus University Hospital since its opening in February 1999 are described. The fluorescent in situ hybridisation (FISH) technique was used for sex selection (hemophilia A and Duchenne's muscular dystrophy) and translocations. The polymerase chain reaction (PCR) was used for cystic fibrosis.


RESULTS
Of 20 PGD cycles started, 15 were successful in terms of transference of healthy or carrier embryos. A positive pregnancy test was found after six of 15 embryo transfers (40%) with two subsequent clinical pregnancies.


CONCLUSIONS
The present pregnancy rates with PGD are comparable to those following IVF; the clinical pregnancy rate may seem low, but the cycle numbers are small. Preimplantation genetic diagnosis seems to be a realistic alternative for selected genetic diseases, in cases where the couple find abortion unacceptable.
Ingerslev
H J
HJ
Center for Praeimplantationsdiagnostik ved Arhus Universitetshospital, Arhus Universitetshospital, Skejby Sygehus, Fertilitetsklinikken.
Hindkjaer
J
J
Jespersgaard
C
C
Lind
M P
MP
Kølvraa
S
S
D000328:Adult; D001757:Blastomeres / Q000648:ultrastructure; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D003718:Denmark; D005260:Female; D005307:Fertilization in Vitro; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods
Praeimplantations genetisk diagnostik. De første erfaringer i Danmark.