Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

Abstract

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.

Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome

“…For the definition of AMC or FADS at least two or more joint contractures in different body areas have to be present. 1,2 The phenotype of FADS includes features like intrauterine growth restriction (IUGR), craniofacial anomalies, limb contractures, pulmonary hypoplasia, short umbilical cord, together with pregnancy complications such as polyhydramnios and abnormal intrauterine positioning. This phenotype can occur isolated or associated with additional organ system anomalies.…”

Myasthenia Gravis Can Have Consequences for Pregnancy and the Developing Child

“…Arthrogryposis with skeletal abnormalities and joint contractures is a rare condition but has increased frequency in children of MG mothers (40). Five out of 127 such children (3.9%) in the Norwegian national cohort had such malformations (25).…”

“…When mother has MG the movement restriction is due to mother's IgG antibodies binding to fetal type AChR with gamma subunits. Arthrogryposis can occur in babies of mothers also with only mild MG. Fetal movements should be monitored as accurately as possible (40) in all women with MG, as there is effective treatment to inhibit arthrogryposis to develop in MG mothers.…”

Summary of the 3rd international symposium on arthrogryposis

“…Guidelines for postoperative management need to be developed and should include contraindications for various surgical procedures among the different conditions associated with AMC. Clinicians, educators, and other professionals providing care to children and adults living with arthrogryposis need to be aware of potential difficulties with anesthesia (small jaw, trismus, tracheostenosis) as well as the risk that myopathies might develop malignant hyperthermia, and be prepared to respond accordingly. Guidelines : Consensus‐based guidelines are needed for prenatal diagnosis (Filges, Tercanli, & Hall, In press), surgical and nonsurgical management of contractures (including timing of procedures), rehabilitation, and autopsies (Oberg & Hall, In press). Youth and adults with AMC, and caregivers, should be included in the development of guidelines as their lived experience provides an important perspective to the relevance and appropriateness of such guidelines (Elfassy et al, ). Genetic testing : To determine diagnosis, genetic testing is recommended in conditions other than Amyoplasia.…”