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Healthy deliveries from biopsied human embryos
1Department of Obstetrics and Gynecology, New York Hospital-Cornell University Medical Center, NY 10021.
Human Reproduction (Oxford, England)
|May 1, 1994
Summary
Preimplantation genetic diagnosis using multiplex PCR and FISH accurately identified embryos free from genetic disorders in IVF. FISH offers additional ploidy assessment, improving diagnostic reliability for inherited diseases.
Area of Science:
- Reproductive Medicine
- Clinical Genetics
- Embryology
Background:
- Preimplantation genetic diagnosis (PGD) is crucial for couples at risk of transmitting severe inherited diseases.
- Assessing embryo genetic status before implantation reduces disease transmission and improves IVF outcomes.
Purpose of the Study:
- To evaluate the efficacy and reliability of multiplex polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) for PGD.
- To assess the diagnostic accuracy and clinical outcomes of PGD in embryos from carriers of genetic disorders.
Main Methods:
- PGD was performed on 122 embryos from 11 IVF patients carrying genes for haemophilia, Duchenne's muscular dystrophy, Barth's syndrome, cystic fibrosis, Pelizaeus-Merzbacher syndrome, or Rett's syndrome.
- Multiplex PCR and FISH analyses were employed for genetic screening and sexing.
- Embryo reassessment was conducted on 55 non-replaced embryos to validate PCR results against FISH.
Main Results:
- 28 unaffected embryos were transferred, resulting in 8 implantations, 3 ongoing pregnancies, 4 live births, and 1 biochemical pregnancy.
- One case of cystic fibrosis was misdiagnosed, leading to pregnancy termination.
- PCR and FISH yielded identical results for 55 reassessed embryos, confirming multiplex PCR's reliability.
- FISH identified an XO (Turner syndrome) karyotype in an embryo missed by PCR alone, highlighting FISH's advantage in ploidy assessment.
Conclusions:
- Multiplex PCR is a reliable method for sexing human embryos in PGD.
- FISH provides superior ploidy assessment and is less susceptible to contamination, enhancing diagnostic accuracy.
- PGD techniques, particularly when combined with FISH, can improve reproductive outcomes for carriers of genetic diseases, though vigilance against misdiagnosis is essential.