ArticleJournal of assisted reproduction and genetics1999
Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes.
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 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed.
- Review
- Arrested human embryos are more likely to have abnormal chromosomes than developing embryos from women of advanced maternal age.Journal of ovarian research · 2014Article
- Preimplantation genetic diagnosis in Saudi Arabia.Bioinformation · 2013Article
- Polar body diagnosis - a step in the right direction?Deutsches Arzteblatt international · 2008Article
- Noncontact, laser-mediated extraction of polar bodies for prefertilization genetic diagnosis.Journal of assisted reproduction and genetics · 2002Article
- Molecular diagnostics in preimplantation genetic diagnosis.The Journal of molecular diagnostics : JMD · 2002Review
- Preimplantation genetic diagnosis in clinical practice.Journal of medical genetics · 2002Review
- 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
- Preimplantation genetic testing: A narrative review.Porto biomedical journalReview
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeA number of pitfalls in single-cell DNA analysis, including undetected DNA contamination, undetected allele drop out, and preferential amplification, may lead to misdiagnosis in preimplantation genetic diagnosis of single-gene disorders.
methodsPreimplantation genetic diagnosis was performed by sequential first and second polar body analysis of oocytes in 26 couples at risk for having children with various single-gene disorders. Mutant genes were amplified simultaneously with linked polymorphic markers, and only embryos resulting from the mutation-free oocytes predicted by polar body analysis with confirmation by polymorphic marker testing were transferred back to patients.
resultsOverall 529 oocytes from 48 clinical cycles (26 patients) were tested, resulting in the transfer of 106 embryos in 44 clinical cycles. As many as 46 (9.6%) instances of allele dropout were observed, the majority (96%) of which were detected. Seventeen unaffected pregnancies were established, of which nine resulted in the birth of an unaffected child, and the rest are ongoing.
conclusionsA high accuracy of preimplantation genetic diagnosis of single-gene disorders is achieved by application of sequential analysis of the first and second polar body and multiplex polymerase chain reaction.
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