Preimplantation polar body diagnosis makes it possible to detect and a
void genetic and chromosomal disorders before pregnancy. We have shown
that the polar body biopsy does not affect fertilization and viabilit
y of the resulting embryos. Our present experience of polar body diagn
osis includes 187 clinical cycles, performed for preimplantation diagn
osis of cystic fibrosis, alpha-1-antitrypsin deficiency, Tay-Sach's di
sease, retinitis pigmentosa, hemophilia A, Alport and sickle cell dise
ase, and common aneuploidy, using the FISH technique. Over three-quart
ers of these cycles have resulted in embryo transfer, 38 in clinical p
regnancy and 12 in the birth of an unaffected child. The present revie
w describes the results of our clinical trial on the polar body diagno
sis of genetic and chromosomal disorders, demonstrating the reliabilit
y of polar body genetic analysis for preimplantation diagnosis. (C) 19
96 Academic Press, Inc.