ABSTRACT
Preimplantation genetic diagnosis (PID) is a novel procedure which may be considered as a very early prenatal diagnosis for couples at risk for transmitting genetic diseases. Using the polymerase chain reaction (PCR) or fluorescence in situ hybridisation (FISH) the genotype or the sex of biopsied cleavage stage embryos obtained after in vitro fertilisation can be determined and selected embryos are then transferred. In vitro fertilisation with intracytoplasmic sperminjection is the method of choice to obtain embryos analysed through PCR to reduce contamination by residual sperm DNA. In our series of 61 PID cycles for 29 couples at risk since a period of 4 years the ongoing pregnancy rate per cycle was 15 %, per transfer 19 % and per patient 31 %. Of the 6 morphologically normal children bom, one who is still alive and doing well, weighed 850 gr. because it was bom at 25 weeks after a complicated triplet pregnancy. More experience is needed to correctly evaluate the efficiency and safety of this novel technique as well as its place in the prevention of genetic disease.
