Artrogripozis Multifleks Konjenita'nın Prenatal Tanısı, Mevcut Durum ve Gelecek Perspektifleri

Özet (abstract)

ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before birth. Missed or late diagnosis limits opportunities for informed counseling, optimal delivery planning, and early postnatal intervention. In this overview, we summarize current knowledge on prenatal detection of AMC, drawing on international cohort studies, registry data, literature on fetal motor assessment, and patient‐reported experiences. We highlight the added value of systematic evaluation of fetal movements in addition to repeated structural anomaly scans, the role of multidisciplinary care pathways, and the importance of phenotypic classification (AMC Groups 1–3) for prognosis and counseling. We also review current and emerging genetic testing strategies, including exome‐ and genome‐based approaches, and their diagnostic yield in fetuses with contractures. Finally, we outline future perspectives for international collaboration, standardized data collection from fetus to adulthood, and research priorities with patient support organizations. Together, these efforts aim to improve awareness, earlier recognition, and more tailored counseling for parents confronted with contractures and the possibility of diagnosing AMC during their pregnancies.

Yazarların özeti; kaynağından alınmıştır. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2026 · DOI ↗