Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita
| Autor: | Bloeme J. van der Knoop, Marjan M. Weiss, Margriet H M van Doesburg, Johanna I.P. de Vries, Johannes A van der Sluijs, Petra C A M Bakker, Marianna Bugiani, Laura A. van de Pol, Maria B Tan-Sindhunata, Annemieke I. Buizer, I. Linskens, Mirjam M. van Weissenbruch, Jill K. Tjon, M.M.E.H. Witbreuk |
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| Přispěvatelé: | Orthopedic Surgery and Sports Medicine, Rehabilitation medicine, Plastic, Reconstructive and Hand Surgery, AMS - Musculoskeletal Health, AMS - Rehabilitation & Development, Obstetrics and Gynaecology, Obstetrics and gynaecology, Amsterdam Movement Sciences, Amsterdam Reproduction & Development (AR&D), Pathology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Movement Sciences - Restoration and Development, Pediatric surgery, Amsterdam Gastroenterology Endocrinology Metabolism, VU University medical center |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
musculoskeletal diseases
Embryology Pediatrics medicine.medical_specialty Contracture Fetus Pregnancy Multidisciplinary approach medicine Care pathway Humans Radiology Nuclear Medicine and imaging Joint Contracture Muscle contracture Arthrogryposis Arthrogryposis multiplex congenita business.industry Obstetrics and Gynecology General Medicine Fetal akinesia deformation sequence Pediatrics Perinatology and Child Health Critical Pathways Female medicine.symptom business |
| Zdroj: | Tjon, J K, Tan-Sindhunata, M B, Bugiani, M, Witbreuk, M M E H, van der Sluijs, J A, Weiss, M M, van Weissenbruch, M M, van de Pol, L A, Buizer, A I, van Doesburg, M H M, Bakker, P C A M, van der Knoop, B J, Linskens, I H & de Vries, J I P 2021, ' Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita ', Fetal Diagnosis and Therapy, vol. 48, no. 11-12, pp. 829-839 . https://doi.org/10.1159/000520869 Fetal diagnosis and therapy, 48(11-12), 829-839. S. Karger AG Fetal Diagnosis and Therapy, 48(11-12), 829-839. S. Karger AG |
| ISSN: | 1015-3837 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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