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

ABSTRACT: 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 classified into three clinical AMC Groups, with the exception that Groups 1 and 2 were combined in the prenatal classification. Group 1 involves limb involvement primarily, Group 2 includes musculoskeletal involvement plus other system anomalies, and Group 3 involves musculoskeletal involvement with central nervous system disability, lethality, fetal akinesia deformation sequence, a

SUBMITTER: Arduc A 

PROVIDER: S-EPMC12859011 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature