title: Healthy deliveries from biopsied human embryos.
abstract: Preimplantation genetic diagnosis was performed in 122 embryos obtained by IVF from 11 patients carriers of haemophilia, Duchenne's muscular dystrophy, Barth's syndrome, cystic fibrosis, Pelizaeus-Merzbacher syndrome or Rett's syndrome. After multiplex polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH) analysis with multiple probes, 28 embryos diagnosed as not affected were replaced. Of these, eight implanted (28%) and produced three ongoing pregnancies, three deliveries of four babies and a biochemical pregnancy. However, one case screened for cystic fibrosis was misdiagnosed and the pregnancy was terminated. In order to evaluate the efficiency of multiplex PCR, 55 non-replaced embryos were reassessed by PCR or by FISH. Identical results were obtained in all cases. However, one embryo which had only X-chromosome specific amplification by PCR was found to be XO in all its cells by FISH. Although multiplex PCR is demonstrated to be reliable for sexing of human embryos, FISH has the additional advantages of supplying ploidy assessment while not being affected by contamination.
authors.affiliation: Department of Obstetrics and Gynecology, New York Hospital-Cornell University Medical Center, NY 10021.
authors.forename: J A
authors.initials: JA
authors.lastname: Grifo
authors.forename: Y X
authors.initials: YX
authors.lastname: Tang
authors.forename: S
authors.initials: S
authors.lastname: Munné
authors.forename: M
authors.initials: M
authors.lastname: Alikani
authors.forename: J
authors.initials: J
authors.lastname: Cohen
authors.forename: Z
authors.initials: Z
authors.lastname: Rosenwaks
mesh_terms: D001706:Biopsy / Q000009:adverse effects / Q000379:methods*; D001757:Blastomeres / Q000166:cytology; D003951:Diagnostic Errors; D004622:Embryo, Mammalian / Q000166:cytology; D005260:Female; D005307:Fertilization in Vitro; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000009:adverse effects / Q000379:methods*