title: Preimplantation polar body diagnosis.
abstract: Preimplantation polar body diagnosis makes it possible to detect and avoid genetic and chromosomal disorders before pregnancy. We have shown that the polar body biopsy does not affect fertilization and viability of the resulting embryos. Our present experience of polar body diagnosis includes 187 clinical cycles, performed for preimplantation diagnosis of cystic fibrosis, alpha-1-antitrypsin deficiency, Tay-Sach's disease, retinitis pigmentosa, hemophilia A, Alport and sickle cell disease, and common aneuploidy, using the FISH technique. Over three-quarters of these cycles have resulted in embryo transfer, 38 in clinical pregnancy and 12 in the birth of an unaffected child. The present review describes the results of our clinical trial on the polar body diagnosis of genetic and chromosomal disorders, demonstrating the reliability of polar body genetic analysis for preimplantation diagnosis.
authors.affiliation: Reproductive Genetics Institute, Illinois Masonic Medical Center, Chicago 60657, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Verlinsky
authors.forename: A
authors.initials: A
authors.lastname: Kuliev
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis; D000782:Aneuploidy; D016764:Cell Polarity; D003550:Cystic Fibrosis / Q000175:diagnosis; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012174:Retinitis Pigmentosa / Q000175:diagnosis; D013661:Tay-Sachs Disease / Q000175:diagnosis; D019896:alpha 1-Antitrypsin Deficiency