Jill K. Tjon
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Maria B. Tan-Sindhunata
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Marianna Bugiani
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Melinda M.E.H. Witbreuk
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Johannes A. van der Sluijs
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...
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.
Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study