ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers.
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Who cites it
77 citing papers in PubMed.
- Clinical application of an Asian Screening Array-based preimplantation genetic testing workflow for various genetic disorders.Orphanet journal of rare diseases · 2026Article
- Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.Human reproduction (Oxford, England) · 2026Observational
- Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses.Human reproduction (Oxford, England) · 2025Article
- Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos.Scientific reports · 2025Article
- Review
- Review
- A novel targeted long-read sequencing-based preimplantation genetic testing method for α-thalassemia (tlrPGT-α-thal).Journal of assisted reproduction and genetics · 2025Article
- The Insufficient Number of Informative SNPs in a Preclinical Karyomapping Test for PGT-M Depends on the Reference Selected.Journal of personalized medicine · 2025Article
- Effectiveness and Clinical Outcomes of PGT-M Using Karyomapping for Successful Pregnancy and Birth in Various Types of Charcot-Marie-Tooth Disease.Journal of personalized medicine · 2025Article
- Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.Genes · 2025Review
- Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells.Nucleic acids research · 2025Article
- Reproductive options and genetic testing for patients with an inherited cardiac disease.Nature reviews. Cardiology · 2025Review
- Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China.Journal of human genetics · 2025Article
- APCAD Part 2: A Novel Method for Detection of Meiotic Aneuploidy in Preimplantation Embryos.Genes · 2025Article
- Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.Orphanet journal of rare diseases · 2025Article
- Haplotyping-based preimplantation genetic testing for inherited cardiovascular disease: a multidisciplinary approach.Molecular genetics and genomics : MGG · 2024Article
- Preimplantation genetic testing in the current era, a review.Archives of gynecology and obstetrics · 2024Review
- Successful preimplantation genetic testing for fibrodysplasia ossificans progressiva: a case report.Journal of medical case reports · 2024Article
- OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing.Journal of assisted reproduction and genetics · 2024Article
- Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature.Genes · 2023Review
17 more citing papers are in PubMed but not listed here.
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16 authors.
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Abstract
purposeOur aim was to compare the accuracy of family- or disease-specific targeted haplotyping and direct mutation-detection strategies with the accuracy of genome-wide mapping of the parental origin of each chromosome, or karyomapping, by single-nucleotide polymorphism genotyping of the parents, a close relative of known disease status, and the embryo cell(s) used for preimplantation genetic diagnosis of single-gene defects in a single cell or small numbers of cells biopsied from human embryos following in vitro fertilization.
methodsGenomic DNA and whole-genome amplification products from embryo samples, which were previously diagnosed by targeted haplotyping, were genotyped for single-nucleotide polymorphisms genome-wide detection and retrospectively analyzed blind by karyomapping.
resultsSingle-nucleotide polymorphism genotyping and karyomapping were successful in 213/218 (97.7%) samples from 44 preimplantation genetic diagnosis cycles for 25 single-gene defects with various modes of inheritance distributed widely across the genome. Karyomapping was concordant with targeted haplotyping in 208 (97.7%) samples, and the five nonconcordant samples were all in consanguineous regions with limited or inconsistent haplotyping results.
conclusionGenome-wide karyomapping is highly accurate and facilitates analysis of the inheritance of almost any single-gene defect, or any combination of loci, at the single-cell level, greatly expanding the range of conditions for which preimplantation genetic diagnosis can be offered clinically without the need for customized test development.
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