ArticleJournal of assisted reproduction and genetics2020
Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Preimplantation genetic testing-M for pathogenic variant in CTC1 gene causing cerebroretinal microangiopathy.Journal of assisted reproduction and genetics · 2026Article
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- Public Attitudes, Interests, and Concerns Regarding Polygenic Embryo Screening.JAMA network open · 2024Article
- Diagnosis and treatment of cystic fibrosis in India: What is at stake for developing countries?Journal of biosciences · 2024Review
- A novel splicing mutation identified in a DMD patient: a case report.Frontiers in pediatrics · 2023Article
- Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia.Reproductive biology and endocrinology : RB&E · 2022Article
- Genetics Matters: Voyaging from the Past into the Future of Humanity and Sustainability.International journal of molecular sciences · 2022Review
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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
purposeWe developed and applied a universal strategy for preimplantation genetic testing for all cystic fibrosis gene mutations (PGT-CF) based on next-generation sequencing (NGS).
methodsA molecular protocol was designed to diagnose all CF mutations at preimplantation stage. The detection of CF mutations was performed by direct gene sequencing and linkage strategy testing 38 specific SNPs located upstream and inside the gene for PGT-CF. Seventeen couples at risk of CF transmission decided to undergo PGT-CF. Trophectoderm cell biopsies were performed on day 5-6 blastocysts. PGT for aneuploidy (PGT-A) was performed from the same samples. Tested embryos were transferred on further natural cycles.
resultsPGT was performed on 109 embryos. Fifteen CF mutations were tested. PGT-CF and PGT-A were conclusive for respectively 92.7% and 95.3% of the samples. A mean of 24.1 SNPs was informative per couple. After a single embryo transfer on natural cycle, 81.3% of the transferred tested embryos were implanted.
conclusionsThe present protocol based on the entire CFTR gene together with informative SNPs outside and inside the gene can be applied to diagnose all CF mutations at preimplantation stage.
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Registered trials
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