ArticleJournal of assisted reproduction and genetics1998
Preimplantation diagnosis of thalassemias.
Article in Journal of assisted reproduction and genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 120 citations in OpenAlex.
- Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.Genes · 2025Review
- Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing.BMC medical genomics · 2024Article
- Article
- From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience.Journal of clinical medicine · 2018Review
- Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey.International journal of women's health · 2017Article
- New advances of preimplantation and prenatal genetic screening and noninvasive testing as a potential predictor of health status of babies.BioMed research international · 2014Review
- Successful pregnancy outcome after in vitro fertilisation following Pre-implantation Genetic Diagnosis/Polymerase Chain Reaction screening for single gene disorder (sickle cell anaemia) before embryo transfer: The clinical experience of an in vitro fertilisation clinic in Nigeria.Nigerian medical journal : journal of the Nigeria Medical Association · 2014Article
- Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area.Orphanet journal of rare diseases · 2013Review
- The prevention of thalassemia.Cold Spring Harbor perspectives in medicine · 2013Review
- Preimplantation diagnosis for β-thalassemia combined with HLA matching: first "savior sibling" is born after embryo selection in Brazil.Journal of assisted reproduction and genetics · 2012Article
- Single-cell polymerase chain reaction-based pre-implantation genetic diagnosis using fragment analysis for β-thalassemia in an Indian couple with β-globin gene mutations.Journal of human reproductive sciences · 2012Article
- Preimplantation genetic diagnosis for α-and β-double thalassemia.Journal of assisted reproduction and genetics · 2011Article
- In vitro fertilization (IVF): a review of 3 decades of clinical innovation and technological advancement.Therapeutics and clinical risk management · 2006Article
- Preimplantation diagnosis (PGD)--a European clinician's point of view.Journal of assisted reproduction and genetics · 2004Review
- Molecular diagnostics in preimplantation genetic diagnosis.The Journal of molecular diagnostics : JMD · 2002Review
- Birth of healthy children after preimplantation diagnosis of thalassemias.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
- Preimplantation genetics.Journal of assisted reproduction and genetics · 1998Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePreimplantation genetic diagnosis (PGD) is an important option for couples at risk of having children with beta-globin mutations to avoid selective abortions of affected fetuses following prenatal diagnosis.
methodsWe performed PGD for thalassemia in 12 clinical cycles (IVS1-110, and IVS-745 mutations) using biopsy of the first and second polar bodies (PBs) extruded from oocytes during maturation and fertilization, coupled with nested polymerase chain reaction analysis and restriction digestion.
resultsA total of 118 oocytes was obtained, of which 78 had results for both the first and the second PBs. This resulted in the selection and transfer of 30 unaffected embryos (2.5 embryos per cycle). To avoid a possible misdiagnosis due to allele dropout (ADO), we have also introduced simultaneous detection of two highly polymorphic linked markers, a short tandem repeat immediately at the 5' end of the globin gene and HUMTH01 which is a syntenic short tandem repeat. The application of multiplex polymerase chain reaction of the beta-globin gene and linked polymorphic markers enabled detection of ADO in five first PBs, thus avoiding the transfer of potentially affected embryos resulting from their corresponding oocytes.
conclusionsConfirmation studies of the embryos resulting from the oocytes predicted to contain an affected gene confirmed the diagnosis in 98% of the cases, thus demonstrating the accuracy and reliability of PB PGD of thalassemia mutations. The application of PB analysis in six patients resulted in two ongoing pregnancies with a thalassemia-free fetus already confirmed in both of them by prenatal diagnosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.