Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita.

Introduction: The majority of arthrogryposis multiplex congenita (AMC) and lethal forms of AMC such as foetal akinesia deformation sequence (FADS) cases are missed prenatally. We have demonstrated the additional value of foetal motor assessment and evaluation in a multidisciplinary team for the period 2007-2016. An applied care pathway was developed for foetuses presenting with joint contracture(s) in one anatomic region (e.

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases. Here we identify MUSK as a novel cause of lethal FADS.

[Intra-uterine death caused by fetal akinesia].

Background: When two successive pregnancies end in intra-uterine fetal death (IUFD), the question of whether it is coincidental or if there is an underlying abnormality arises. Although diagnostic investigations into the underlying cause are not always carried out after IUFD, they are recommended by the professional body.

Case Description: A 28-year-old female attended our gynaecology outpatient clinic for a second opinion following two intra-uterine fetal deaths.