Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital and University of Basel, Basel, Switzerland.
Center for Prenatal Ultrasound, Basel and University of Basel, Basel, Switzerland.
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):327-336. doi: 10.1002/ajmg.c.31723. Epub 2019 Jul 18.
Antenatal identification of fetuses with multiple congenital contractures or arthrogryposis multiplex congenita (AMC) may be challenging. The first clinical sign is often reduced fetal movement and/or contractures, as seen on prenatal ultrasounds. This can be apparent at any point, from early to late pregnancy, may range from mild to severe involvement, with or without associated other structural anomalies. Possible etiologies and their prognosis need to be interpreted with respect to developmental timing. The etiology of AMC is highly heterogeneous and making the specific diagnosis will guide prognosis, counseling and prenatal and perinatal management. Current ultrasound practice identifies only approximately 25% of individuals with arthrogryposis prenatally before 24 weeks of pregnancy in a general obstetrics care population. There are currently no studies and guidelines that address the question of when and how to assess for fetal contractures and movements during pregnancy. The failure to identify fetuses with arthrogryposis before 24 weeks of pregnancy means that physicians and families are denied reproductive options and interventions that may improve outcome. We review current practice and recommend adjusting the current prenatal imaging and genetic diagnostic strategies to achieve early prenatal detection and etiologic diagnosis. We suggest exploring options for in utero therapy to increase fetal movement for ongoing pregnancies.
产前识别胎儿多发先天性挛缩或多发性先天性关节挛缩症（AMC）可能具有挑战性。第一个临床体征通常是胎儿运动减少和/或挛缩，这在产前超声中可见。这种情况可能在妊娠的任何阶段出现，从早期到晚期，可能从轻度到重度受累，伴有或不伴有其他结构异常。需要根据发育时间来解释可能的病因及其预后。AMC 的病因高度异质，做出明确诊断将有助于指导预后、咨询以及产前和围产期管理。目前的超声检查仅能在普通产科护理人群中识别出大约 25%的在妊娠 24 周前出现关节挛缩的胎儿。目前尚无研究和指南来解决在怀孕期间何时以及如何评估胎儿挛缩和运动的问题。未能在妊娠 24 周前识别出患有关节挛缩症的胎儿意味着医生和家庭被剥夺了可能改善预后的生殖选择和干预措施。我们回顾了当前的实践，并建议调整当前的产前影像学和遗传诊断策略，以实现早期产前检测和病因诊断。我们建议探索宫内治疗的选择，以增加胎儿的运动，从而改善妊娠结局。
