PMID- 7929742 OWN - NLM STAT- MEDLINE DCOM- 19941115 LR - 20190512 IS - 0268-1161 (Print) IS - 0268-1161 (Linking) VI - 9 IP - 5 DP - 1994 May TI - Healthy deliveries from biopsied human embryos. PG - 912-6 AB - 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. FAU - Grifo, J A AU - Grifo JA AD - Department of Obstetrics and Gynecology, New York Hospital-Cornell University Medical Center, NY 10021. FAU - Tang, Y X AU - Tang YX FAU - Munne, S AU - Munne S FAU - Alikani, M AU - Alikani M FAU - Cohen, J AU - Cohen J FAU - Rosenwaks, Z AU - Rosenwaks Z LA - eng PT - Clinical Trial PT - Journal Article PL - England TA - Hum Reprod JT - Human reproduction (Oxford, England) JID - 8701199 SB - IM MH - Biopsy/adverse effects/*methods MH - Blastomeres/cytology MH - Diagnostic Errors MH - *Embryo, Mammalian/cytology MH - Female MH - Fertilization in Vitro MH - Genetic Diseases, Inborn/*diagnosis/genetics MH - Heterozygote MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant, Newborn MH - Male MH - Polymerase Chain Reaction MH - Pregnancy MH - Pregnancy Outcome MH - Prenatal Diagnosis/adverse effects/*methods EDAT- 1994/05/01 00:00 MHDA- 1994/05/01 00:01 CRDT- 1994/05/01 00:00 PHST- 1994/05/01 00:00 [pubmed] PHST- 1994/05/01 00:01 [medline] PHST- 1994/05/01 00:00 [entrez] AID - 10.1093/oxfordjournals.humrep.a138616 [doi] PST - ppublish SO - Hum Reprod. 1994 May;9(5):912-6. doi: 10.1093/oxfordjournals.humrep.a138616.