Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy.
Neuromuscul Disord
; 21(2): 97-101, 2011 Feb.
Article
em En
| MEDLINE
| ID: mdl-21194946
ABSTRACT
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 11-14 weeks, 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Índice de Gravidade de Doença
/
Atrofia Muscular Espinal
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Ultrassonografia Pré-Natal
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Movimento Fetal
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Evaluation_studies
/
Observational_studies
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Prognostic_studies
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Qualitative_research
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Risk_factors_studies
Limite:
Female
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Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article