Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS)

Early Human Development
Mariëlle E DonkerJohanna I P de Vries

Abstract

Fetal Akinesia Deformation Sequence (FADS) is a rare, in most cases autosomal recessive, disorder. Its heterogeneous origin results in variable onset and expression of motor and postural anomalies. DNA-diagnostic possibilities are limited, thus prenatal diagnosis is chiefly dependent on sonographic examinations. To explore postural and motor development from a systematic sonographic protocol for fetuses at high risk for FADS. Specific questions are: which motor (i.e., specific movement patterns, quality and quantity of general movements) and postural aspects are most informative about emerging FADS and is the gestational age of onset range of FADS more limited for siblings? Ten families underwent 45, 15-minute sonographic assessments for motility and posture for ten index fetuses with FADS and nine subsequent pregnancies from five families. FADS was diagnosed between 18 and 33 weeks gestation in ten index pregnancies and between 11 and 18 weeks gestation in 4/9 subsequent pregnancies, 1-12 weeks earlier than their index pregnancies. From the four assessment aspects, posture and movement quality were always abnormal, movement quantity in 7/14 and differentiation into specific movement patterns were reduced in comparison with hea...Continue Reading

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Citations

Oct 16, 2015·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·N B BurgerJ I P de Vries
Jan 5, 2011·Neuromuscular Disorders : NMD·Juan ParraEduardo F Tizzano
Mar 21, 2012·Prenatal Diagnosis·Stefan Franz NemecDaniela Prayer
Aug 1, 2012·Prenatal Diagnosis·Isabel Filges, Judith G Hall
Apr 19, 2013·Prenatal Diagnosis·Marleen A HagenJohanna I de Vries
Mar 15, 2011·The Journal of Obstetrics and Gynaecology Research·Tomoyuki KuwataMitsuaki Suzuki
Mar 5, 2011·Prenatal Diagnosis·Stefan F NemecDaniela Prayer
Jul 2, 2015·Early Human Development·Bloeme J van der KnoopJohanna I P de Vries
May 21, 2016·Clinical Genetics·D MassalskaT Roszkowski
Jan 26, 2018·Journal of the Royal Society, Interface·Stefaan W VerbruggenNiamh C Nowlan
Jul 19, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Isabel FilgesJudith G Hall
May 16, 2020·Archives of Gynecology and Obstetrics·N ReisslandJ Einbeck
Oct 2, 2020·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Marcella PellegrinoDaniela Visconti
Oct 23, 2020·Archives of Gynecology and Obstetrics·Brit BusackStefan Verlohren
Mar 9, 2021·American Journal of Medical Genetics. Part a·Judith G Hall
Mar 28, 2021·Disease Models & Mechanisms·Rebecca A RolfePaula Murphy
Aug 24, 2021·Disease Models & Mechanisms·Rebecca A RolfePaula Murphy

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