Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland.
Pediatric Neurology and Developmental Medicine, University Children's Hospital Basel UKBB and University of Basel, Basel, Switzerland.
Prenat Diagn. 2023 Jun;43(6):798-805. doi: 10.1002/pd.6299. Epub 2023 Jan 12.
Arthrogryposis, also termed arthrogryposis multiplex congenita, is a descriptive term for conditions with multiple congenital contractures (MCC). The etiology is extremely heterogeneous. More than 400 specific disorders have been identified so far, which may lead to or are associated with MCC and/or fetal hypo- and akinesia as a clinical sign. With improved sensitivity of prenatal ultrasound and expanding prenatal diagnostic options, clinicians are tasked with providing early detection in order to counsel the prospective parents regarding further prenatal diagnostic as well as management options. We summarize the most important knowledge to raise awareness for early detection in pregnancy. We review essential points for counseling when MCC is detected in order to provide answers to common questions, which, however, cannot replace interdisciplinary expert opinion in the individual case.
关节挛缩症，也称先天性多发性关节挛缩症，是一种描述性术语，用于指代多种先天性挛缩（MCC）的情况。其病因极其多样化。迄今为止，已经确定了超过 400 种特定疾病，这些疾病可能导致或与 MCC 以及/或胎儿运动减少和活动减少作为临床体征相关。随着产前超声检查敏感性的提高和产前诊断选择的扩大，临床医生的任务是提供早期检测，以便就进一步的产前诊断和管理选择为潜在父母提供咨询。我们总结了提高妊娠早期检测意识的最重要知识。我们回顾了当检测到 MCC 时咨询的要点，以提供常见问题的答案，但这并不能替代在具体情况下的跨学科专家意见。
