Document Detail


Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS).
MedLine Citation:
PMID:  19944545     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: 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. AIM: 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? METHODS: 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. RESULTS: 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 healthy siblings (p<0.01). Deterioration occurred in a 2 week period. CONCLUSIONS: Serial postural and qualitative assessments were most informative diagnosing FADS. Quantity and differentiation into specific movement patterns contributed substantially. Onset range of FADS within siblings was suggested to be more limited than between families.
Authors:
Mari??lle E Donker; Belinda H W Eijckelhof; Gita M B Tan; Johanna I P de Vries
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Publication Detail:
Type:  Evaluation Studies; Journal Article    
Journal Detail:
Title:  Early human development     Volume:  85     ISSN:  1872-6232     ISO Abbreviation:  Early Hum. Dev.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2009-12-01     Completed Date:  2010-02-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7708381     Medline TA:  Early Hum Dev     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  785-90     Citation Subset:  IM    
Affiliation:
Department of Obstetrics and Gynecology, Research Institute MOVE, VU university medical center, 1007 MB Amsterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / physiopathology*,  ultrasonography*
Face / abnormalities,  ultrasonography
Female
Fetal Growth Retardation / etiology,  physiopathology,  ultrasonography
Fetal Monitoring / methods
Fetal Movement / physiology*
Fetus / physiology*
Gestational Age
Humans
Joint Diseases / complications,  congenital,  physiopathology,  ultrasonography
Motor Activity / physiology
Muscle, Skeletal / embryology,  physiology
Polyhydramnios / physiopathology,  ultrasonography
Posture / physiology*
Pregnancy
Retrospective Studies
Ultrasonography, Prenatal / methods

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