REVIEW - PREIMPLANTATION DIAGNOSIS OF INHERITED DISEASE

Preimplantation diagnosis of inherited diseases has become possible wi th the techniques of in vitro fertilization, blastomere biopsy of the 6- to 10-cell embryo and DNA analysis of the single blastomeres. Disea se-free embryos are selected for transfer to the uterus, thereby avoid ing the need for termination of a fetus diagnosed as affected in prena tal diagnosis in the first or early-second trimester of pregnancy. The genetic indications for preimplantation diagnosis are theoretically t he same as for prenatal diagnosis, but the defects must be detectable by the polymerase chain reaction. For X-linked recessive diseases, flu orescence in situ hybridization can be used as an alternative for the selection of female embryos. So far almost 40 healthy children have be en born worldwide after preimplantation diagnosis for genetic disease. The possibilities and limitations of preimplantation diagnosis, espec ially in prevention of inherited disease, are discussed in this review .