title: Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection.
abstract: Preimplantation genetic diagnosis (PGD) is a novel procedure whose use may be considered to obtain a very early prenatal diagnosis for couples at risk for transmitting genetic diseases. Using the polymerase chain reaction (PCR) or fluorescence in-situ hybridization (FISH) the genotype or the sex of biopsied cleavage-stage embryos obtained after in-vitro fertilization can be determined and selected embryos can then be transferred. In-vitro fertilization with intracytoplasmic sperm injection is the method of choice to obtain embryos to be analysed through PCR to reduce contamination by residual sperm DNA. In our series of 61 PGD cycles for 29 couples at risk over a period of 4 years the ongoing pregnancy rate per cycle was 15%, per transfer 19% and per patient 31%. One of the six morphologically normal children born, who is still alive and doing well, weighed 850 g after birth at 25 weeks following a complicated triplet pregnancy. More experience is needed to correctly evaluate the efficiency and safety of this novel technique as well as to determine its place in the prevention of genetic disease.
authors.affiliation: Centre for Medical Genetics, Dutch-speaking Brussels Free University, Belgium.
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
authors.forename: K
authors.initials: K
authors.lastname: Sermon
authors.forename: C
authors.initials: C
authors.lastname: Staessen
authors.forename: H
authors.initials: H
authors.lastname: Joris
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: E
authors.initials: E
authors.lastname: Van Assche
authors.forename: P
authors.initials: P
authors.lastname: Nagy
authors.forename: M
authors.initials: M
authors.lastname: Bonduelle
authors.forename: M
authors.initials: M
authors.lastname: Vandervorst
authors.forename: P
authors.initials: P
authors.lastname: Devroey
authors.forename: A
authors.initials: A
authors.lastname: Van Steirteghem
mesh_terms: D000328:Adult; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000517:prevention & control; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008845:Microinjections; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011256:Pregnancy Outcome; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis; D013094:Spermatozoa