Document Detail


Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy.
MedLine Citation:
PMID:  21194946     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
We studied spinal muscular atrophy (SMA) during human development to identify possible delays or alterations in fetal movements detectable by ultrasound. We evaluated 29 pregnancies at risk for severe SMA performing 2D-ultrasound around 11-14weeks, prior to prenatal molecular testing of the SMN1 gene. We charted the occurrence of generalized body movements, isolated movements of arms and legs, head movements, startle and hiccup. Fetuses were diagnosed as healthy (n=12), carriers (n=10) or affected (n=7) according to the SMN1 molecular testing results obtained. SMN2 copies were also tested in the seven affected fetuses, six of whom showed two SMN2 copies and one a unique SMN2 copy. The movements under study were observed in all recordings, regardless of group and the SMN2 copies. At the gestational age examined, we did not observe a qualitative early limitation of movements in fetuses with SMA, even in cases predicted to develop a severe neonatal form.
Authors:
Juan Parra; Rebeca Martínez-Hernández; Eva Also-Rallo; Laura Alias; María Jesús Barceló; María Amenedo; Carmen Medina; Raquel Senosiain; Joaquim Calaf; Montserrat Baiget; Sara Bernal; Eduardo F Tizzano
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Publication Detail:
Type:  Journal Article     Date:  2010-12-30
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  21     ISSN:  1873-2364     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-01-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  97-101     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier B.V. All rights reserved.
Affiliation:
Department of Obstetrics and Gynecology, Hospital Sant Pau, Barcelona, Spain.
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