Document Detail

First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome.
MedLine Citation:
PMID:  11339194     Owner:  NLM     Status:  MEDLINE    
We report the prenatal detection of increased nuchal translucency and decreased fetal movements, at 11 weeks of gestation, in a fetus at risk for Zellweger syndrome. The diagnosis of Zellweger syndrome was confirmed by metabolic studies on cultured chorionic villus sampling (CVS) cells and the pregnancy was terminated. The couple's subsequent pregnancy was monitored using the same method. In this pregnancy the nuchal translucency measured at 12 weeks' gestation was normal, the fetus was active, and biochemical studies using CVS and amniocentesis confirmed normal results. We believe this to be the first reported case of Zellweger syndrome followed prenatally in which an increased nuchal translucency and fetal hypokinesia were detected in the first trimester. During the pregnancy with the affected child the maternal serum screen (MSS) showed low estriol level. We believe this to be the second report of a low estriol level on MSS in a pregnancy affected with Zellweger syndrome.
J M Johnson; R Babul-Hirji; D Chitayat
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  17     ISSN:  0960-7692     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2001 Apr 
Date Detail:
Created Date:  2001-05-07     Completed Date:  2001-09-27     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  England    
Other Details:
Languages:  eng     Pagination:  344-6     Citation Subset:  IM    
Department of Obstetrics and Gynecology, Prenatal Diagnosis Program, Mount Sinai Hospital, Toronto, Toronto, Ontario, Canada.
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MeSH Terms
Diagnosis, Differential
Estriol / blood
Hypokinesia / ultrasonography
Neck / ultrasonography*
Pregnancy Outcome
Pregnancy Trimester, First
Ultrasonography, Prenatal*
Zellweger Syndrome / ultrasonography*
Reg. No./Substance:

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