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Nuchal translucency measurement in fetuses with spinal muscular atrophy.
MedLine Citation:
PMID:  21287566     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder with a high carrier frequency in the general population. The severity of this disorder indicates the importance of early prenatal detection. In medical literature, there are a few published case reports of enlarged nuchal translucency (NT) measurement in association with a diagnosis of SMA in the fetus. Our goal is to determine whether SMA in infants is associated with a history of an increased NT measurement during pregnancy. METHODS: Using contact information obtained through SMA family support groups, women who had recently given birth to infants affected with SMA were identified and queried about NT ultrasound results during the pregnancy. NT values were confirmed via ultrasound report to determine whether SMA was associated with a history of an enlarged NT measurement. RESULTS: Twelve SMA affected infants with confirmed NT results during the pregnancy were identified. All fetuses had normal NT values ranging from 0.7 to 2.4 mm. CONCLUSION: In this series, SMA did not appear to be associated with an enlarged NT. Copyright © 2011 John Wiley & Sons, Ltd.
Authors:
Neda Zadeh; Louanne Hudgins; Mary E Norton
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-1
Journal Detail:
Title:  Prenatal diagnosis     Volume:  -     ISSN:  1097-0223     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 John Wiley & Sons, Ltd.
Affiliation:
Genetics Center, 211 S. Main Street, Orange, CA, USA. nzadeh@geneticscenter.com.
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