Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses.

Human reproduction (Oxford, England) - 1 Dec 2025

Schadwell Alessia, Whiting Olivia, Xanthopoulou Leoni, Colls Pere, Bakosi Evangelia, Goodall N-Neka, Ribustello Lia, Ellis Peter, Gordon Tony, Griffin Darren K

Abstract excerpt

STUDY QUESTION: Can a universal diagnostic test (Karyomapping) be applied for preimplantation genetic testing for multiple monogenic disorders (PGT-M) and what is the misdiagnosis rate? SUMMARY ANSWER: Among 9020 cases of PGT-M, >1000 different disorders were diagnosed by Karyomapping; independent validation of >70% of cases did not detect a misdiagnosis. WHAT IS KNOWN ALREADY: PGT-M, first performed in 1992, has...

Read the complete abstract on PubMed

Topics

Humans
Preimplantation Diagnosis
Female
Genetic Testing
Diagnostic Errors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genetic Diseases, Inborn

Pregnancy

Karyotyping

Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 41139420
DOI: 10.1093/humrep/deaf198
PMCID: PMC12675417

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses.PMID 41139420Read ↗

OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing.Semantic proximity Read ↗

Preimplantation Genetic Testing for Monogenic DisordersSemantic proximity Read ↗

Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issuesSemantic proximity Read ↗

Indications and management of preimplantation genetic testing for monogenic conditions: a committee opinionSemantic proximity Read ↗

Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro.Semantic proximity Read ↗

A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditionsSemantic proximity Read ↗

Development and Validation of a Non-invasive cfDNA Assay for Dominant Monogenic Disorders in Pregnancies Stratified by Ultrasound RiskSemantic proximity Read ↗

A review of pre-implantation genetic testing technologies and applicationsSemantic proximity Read ↗

RETIRED: Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinionSemantic proximity Read ↗

Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism.Semantic proximity Read ↗

Chinese experts’ consensus guideline on preimplantation genetic testing of monogenic disordersSemantic proximity Read ↗

Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platformSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.