Jill K Tjon1, Maria B Tan-Sindhunata2, Marianna Bugiani3, Melinda M E H Witbreuk4, Johannes A van der Sluijs4, Marjan M Weiss2, Mirjam M van Weissenbruch5, Laura A van de Pol6, Annemieke I Buizer7, Margriet H M van Doesburg8, Petra C A M Bakker1, Bloeme J van der Knoop1, Ingeborg H Linskens1, Johanna I P de Vries1. 1. Department of Obstetrics and Gynaecology, Amsterdam Movement Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. 2. Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. 3. Department of Pathology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. 4. Department of Orthopedic Surgery, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. 5. Department of Child Neurology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. 6. Department of Paediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. 7. Department of Rehabilitation Medicine and Emma Children's Hospital, Amsterdam Movement Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. 8. Department of Plastic Surgery, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Abstract
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.g., talipes equinovarus [TEV]), 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 a post-mortem 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 a specialist also treating after birth, and the 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 the detection rate and diagnosis of isolated contracture(s), TEV with underlying genetic causes, and the rare phenotypes AMC/FADS and prompt treatment after birth within expertise teams.
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.g., talipes equinovarus [TEV]), 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 a post-mortem 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 a specialist also treating after birth, and the 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 the detection rate and diagnosis of isolated contracture(s), TEV with underlying genetic causes, and the rare phenotypes AMC/FADS and prompt treatment after birth within expertise teams.
Authors: Miriam Potrony; Antoni Borrell; Narcís Masoller; Alfons Nadal; Leonardo Rodriguez-Carunchio; Karmele Saez de Gordoa Elizalde; Juan Francisco Quesada-Espinosa; Jose Luis Villanueva-Cañas; Montse Pauta; Meritxell Jodar; Irene Madrigal; Celia Badenas; Maria Isabel Alvarez-Mora; Laia Rodriguez-Revenga Journal: J Clin Med Date: 2022-06-21 Impact factor: 4.964