ArticleEuropean journal of human genetics : EJHG2012
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers, 2 of them syntheses that pooled it.
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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
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.European journal of human genetics : EJHG · 2013Guideline
- Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges.Cancer pathogenesis and therapy · 2024Review
- Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience.European journal of human genetics : EJHG · 2023Article
- Simultaneous detection of genomic imbalance in patients receiving preimplantation genetic testing for monogenic diseases (PGT-M).Frontiers in genetics · 2022Article
- Genetics in human reproduction.JBRA assisted reproduction · 2020Review
- Review
- Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases.Journal of assisted reproduction and genetics · 2020Article
- Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory.Diagnostics (Basel, Switzerland) · 2019Article
- Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers.Journal of genetic counseling · 2018Article
- Preimplantation genetics and other reproductive options in Huntington disease.Handbook of clinical neurology · 2017Review
- Prenatal testing in Huntington disease: after the test, choices recommence.European journal of human genetics : EJHG · 2016Article
- Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene.JAMA neurology · 2014Review
- Therapy in Huntington's disease: where are we?Current neurology and neuroscience reports · 2012Review
- Evolution and Utility of Preimplantation Genetic Testing for Monogenic Disorders in Assisted Reproduction - A Narrative Review.Journal of human reproductive sciencesReview
- Preimplantation genetic testing for Huntington disease: the perspective of one Portuguese center.Porto biomedical journalArticle
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study provides an overview of 13 years of experience of preimplantation genetic diagnosis (PGD) for Huntington's disease (HD) at three European PGD centres in Brussels, Maastricht and Strasbourg. Information on all 331 PGD intakes for HD, couples' reproductive history, PGD approach, treatment cycles and outcomes between 1995 and 2008 were collected prospectively. Of 331 couples for intake, 68% requested direct testing and 32% exclusion testing (with a preponderance of French couples). At the time of PGD intake, 39% of women had experienced one or more pregnancies. A history of pregnancy termination after prenatal diagnosis was observed more frequently in the direct testing group (25%) than in the exclusion group (10%; P=0.0027). PGD workup was based on two approaches: (1) direct testing of the CAG-triplet repeat and (2) linkage analysis using intragenic or flanking microsatellite markers of the HTT gene. In total, 257 couples had started workup and 174 couples (70% direct testing, 30% exclusion testing) completed at least one PGD cycle. In total, 389 cycles continued to oocyte retrieval (OR). The delivery rates per OR were 19.8%, and per embryo transfer 24.8%, resulting in 77 deliveries and the birth of 90 children. We conclude that PGD is a valuable and safe reproductive option for HD carriers and couples at risk of transmitting HD.
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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.