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Article

Perinatal genetic diagnostic yield in a population of fetuses with the phenotype arthrogryposis multiplex congenita: a cohort study 2007-2021.

European journal of human genetics : EJHG - 1 Feb 2026

Arduç Arda, De Vries Johanna I P, B Tan-Sindhunata Maria, Waisfisz Quinten, Pajkrt Eva, Linskens Ingeborg H

Abstract excerpt

Arthrogryposis multiplex congenita (AMC) presents challenges for prenatal detection due to its heterogeneous etiology, onset, and phenotypical manifestations. This study aims to describe the genetic diagnostic yield in a population of fetuses with detailed phenotypic description over a 15-year period (2007-2021) at the Fetal Medicine Unit of Amsterdam UMC, the Netherlands. The fetal and neonatal phenotypes were...

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Identifiers

PMID: 40195522
DOI: 10.1038/s41431-025-01848-3
PMCID: PMC12859011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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