ArticleJournal of assisted reproduction and genetics1999
Birth of healthy children after preimplantation diagnosis of thalassemias.
Article in Journal of assisted reproduction and genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 77 citations in OpenAlex.
- Article
- Spermatogonial stem cell autotransplantation and germline genomic editing: a future cure for spermatogenic failure and prevention of transmission of genomic diseases.Human reproduction update · 2016Review
- Direct comparison of detection systems used for the development of single-cell genetic tests in preimplantation genetic diagnosis.Journal of assisted reproduction and genetics · 2001Article
- Preimplantation diagnosis: an alternative to prenatal diagnosis of genetic and chromosomal disorders. International Working Group on Preimplantation Genetics.Journal of assisted reproduction and genetics · 1999Article
- Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes.Journal of assisted reproduction and genetics · 1999Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPreimplantation genetic diagnosis (PGD) allows couples at risk of having children with thalassemia to ensure the healthy outcome of their pregnancy.
methodsSeventeen PGD clinical cycles were initiated for Cypriot couples at risk of having children with different thalassemia mutations, including IVSI-110, IVSI-6, and IVS II-745. Unaffected embryos for transfer were selected by testing oocytes, using first and second polar body (PB) removal and nested polymerase chain reaction analysis followed by restriction digestion.
resultsUnaffected embryos were selected in 16 of 17 PGD cycles. Of 166 oocytes studied from these cycles, 110 were analyzed by sequential analysis of both the first and the second PB, resulting in preselection and transfer of 45 unaffected embryos. This resulted in seven pregnancies and in the birth of five healthy thalassemia-free children. The embryos predicted to have inherited the affected allele were not transferred. Analysis of these embryos confirmed the PB diagnosis.
conclusionsSequential first and second PB testing of oocytes is reliable for PGD of thalassemia and is a feasible alternative to prenatal diagnosis in high-risk populations.
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