Healthy deliveries from biopsied human embryos
| Autor: | Jacques Cohen, Ya Xu Tang, Mina Alikani, Zev Rosenwaks, Jamie Grifo, Santiago Munné |
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| Předmět: |
Male
Blastomeres Heterozygote Pathology medicine.medical_specialty Biopsy Fertilization in Vitro Sexing Biology Preimplantation genetic diagnosis Polymerase Chain Reaction Cystic fibrosis Hemophilias Pregnancy Prenatal Diagnosis Multiplex polymerase chain reaction medicine Humans Multiplex Diagnostic Errors In Situ Hybridization Fluorescence medicine.diagnostic_test Rehabilitation Genetic Diseases Inborn Infant Newborn Pregnancy Outcome Obstetrics and Gynecology Embryo Mammalian medicine.disease Reproductive Medicine Female Fluorescence in situ hybridization |
| Zdroj: | Scopus-Elsevier |
| Popis: | Preimplantation genetic diagnosis was performed in 122 embryos obtained by FVF from 11 patients carriers of haemophilia, Duchenne's muscular dystrophy, Barth's syndrome, cystic fibrosis, Pelizaeus-Merzbacher syndrome or Rett's syndrome. After multiplex potymerase 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 . |
| Databáze: | OpenAIRE |
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