Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review

Autor: Gajja S. Salomons, Peter G. J. Nikkels, Elisabeth van Leeuwen, Johanna I.P. de Vries, George L. Burchell, Quinten Waisfisz, Jill K Tjon, Gita M. B. Tan-Sindhunata, Marjan M. Weiss, I. Linskens, Phillis Lakeman, Patrick J P van der Voorn, Bloeme J. Van Der Knoop

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, 9, 1-23
Molecular Genetics & Genomic Medicine, 9, 11, pp. 1-23
Molecular genetics and genomic medicine, 9(11):e1827. John Wiley and Sons Inc.
Molecular Genetics and Genomic Medicine, 9(11):e1827. John Wiley and Sons Inc.
Tjon, J K, Lakeman, P, van Leeuwen, E, Waisfisz, Q, Weiss, M M, Tan-Sindhunata, G M B, Nikkels, P G J, van der Voorn, P J P, Salomons, G S, Burchell, G L, Linskens, I H, van der Knoop, B J & de Vries, J I P 2021, ' Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review ', Molecular Genetics and Genomic Medicine, vol. 9, no. 11, e1827 . https://doi.org/10.1002/mgg3.1827
Molecular Genetics & Genomic Medicine

Background Massive perivillous fibrin deposition (MPFD) is associated with adverse pregnancy outcomes and is mainly caused by maternal factors with limited involvement of fetal or genetic causes. We present one consanguineous couple with six fetuses

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76812435333f8b1d8a8ad79fa45192b2
https://doaj.org/article/8718ab6b921243f68e1942ab0484b3c1

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

Publikováno v: 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

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 e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4952fb3d404994a0199b83e7c2655b54
https://research.vumc.nl/en/publications/059c4055-de09-4a68-8a02-16bbcf0f344a

EP08.10: Recurrent arachnoid cysts: no known genetic cause?

Autor: Nicole I. Wolf, J.I. Vries, J. Tjon, P. Zwijnenburg, P. Bakker, S. Van der Crabben, I. Linskens

Publikováno v: Ultrasound in Obstetrics & Gynecology. 54:279-279

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e059cccdc1854000520aab81aac124c2
https://doi.org/10.1002/uog.21262

OC13.07: * The impact of additional anomalies on head growth in fetuses with congenital heart defects

Autor: J. Hruda, Eva Pajkrt, A. van Nisselrooij, Monique C. Haak, N. van Geloven, F.A. Jansen, Nico A. Blom, I. Linskens, J. Van Lith, Sally-Ann B. Clur

Publikováno v: Ultrasound in Obstetrics & Gynecology. 52:32-32

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::163ba80ce6ff3000f46c7614a5d482bc
https://doi.org/10.1002/uog.19295