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

Abstract

Introduction The majority of arthrogryposis multiplex congenita (AMC) and lethal forms of AMC such as fetal akinesia deformation sequence (FADS) cases are missed prenatally. We have demonstrated the additional value of fetal motor assessment and evaluation in a multidisciplinary team for the period 2007-2016. An applied care pathway for fetuses presenting with joint contracture(s) in one anatomic region (e.g. talipes equinovares), more than one body part with non-progressive contractures and motility (AMC) and with deterioration over time (FADS). Methods The multidisciplinary team of Amsterdam University Medical Centre Expertise Centre FADS and AMC developed the care pathway. Additional tools are provided including a motor assessment by ultrasound examination and postmortem assessment form. Results An eight-step care pathway is presented with a proposed timing for prenatal sonographic examination, genetic examinations, multidisciplinary meetings, prenatal and postnatal counselling of the parents by specialist also treating after birth, follow-up of prenatal and postnatal findings with counselling for future pregnancies. Discussion/conclusion The scheduled serial structural and motor sonograpahic assessment together with follow-up examinations and genetic analysis, should be tailored per prenatal centre per available resources. The multidisciplinary care pathway may pave the way to increase detection rate and diagnosis of isolated contracture(s), talipes equinovares with underlying genetic causes and the rare phenotypes AMC/FADS and prompt treatment after birth within expertise teams.

Prenatal diagnosis (or lack thereof) of arthrogryposis multiplex congenita and its impact on the perinatal experience of parents: A retrospective survey

“…Clinicians with such training could be better equipped to offer more thorough and accurate diagnoses and prognoses to expectant parents as well as to provide the empathy and compassion that parents deserve. Recent publications have proposed detailed algorithms and care pathways for clinicians to follow after AMC has been detected, including suggested referrals, imaging studies, invasive testing for genetic studies, plans for delivery and counseling for future pregnancies 19,20 . Our survey supports the need for and utility of such guidelines, as ADCs were able to prepare for delivery and early infancy, while PDCs were left with little confidence in their obstetric providers as they hurried to understand their child's condition and seek appropriate care.…”

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

“…Sonographic detection of AMC in a prenatal context is often missed or diagnosed during late gestation, when associated anomalies are more pronounced [18,19]. In the series herein reviewed, approximately 30-32 weeks of gestational age is the mean gestational age of prenatal diagnosis, with fetal akinesia, missing fetal movements, arthrogryposis, and polyhydramnios being the most frequently reported features.…”

Calf circumferences in fetuses and neonates with and without talipes equinovares. A prospective cohort study

“…Parents were counseled for targeted sonographic examination and consultation with the clinical geneticist. Advices are summarized in the care pathway for contractures, including not only structural but also motor assessment 18 . All TEV are treated conforming to the guidelines of the Dutch Orthopedic Association for children with clubfeet 19 …”

“…Advices are summarized in the care pathway for contractures, including not only structural but also motor assessment. 18 All TEV are treated conforming to the guidelines of the Dutch Orthopedic Association for children with clubfeet. 19 After the prenatal diagnosis of clubfeet, the parents are counseled by the orthopedic surgeon of our clubfoot center about the treatment procedure starting within 1 week after at term birth according to the Ponseti method.…”