Document Detail

Early prenatal sonographic diagnosis of congenital hypophosphatasia.
MedLine Citation:
PMID:  10846783     Owner:  NLM     Status:  MEDLINE    
A pregnant woman of 14 weeks' gestation was sonographically examined due to large-for-dates uterine size. The ultrasound examination showed poor ossification of all bony structures. All limbs were shortened with no evidence of fractures. The echodensity approximated that of the surrounding organs. No acoustic shadowing was observed. Based on these sonographic findings, skeletal dysplasia and short-limb dwarfism were diagnosed, the most likely condition being congenital hypophosphatasia. Early cordocentesis was successfully performed at 15 weeks' gestation to determine fetal alkaline phosphatase concentration. This was undetectable. The prenatal diagnosis of congenital hypophosphatasia was made. After counselling, the woman decided to opt for termination of pregnancy which was performed vaginally. Post-abortion findings confirmed the prenatal diagnosis. To our knowledge, this is the earliest sonographic diagnosis of this condition reported.
T Tongsong; S Pongsatha
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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:  15     ISSN:  0960-7692     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2000 Mar 
Date Detail:
Created Date:  2000-09-26     Completed Date:  2000-09-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  252-5     Citation Subset:  IM    
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand.
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MeSH Terms
Fetal Death
Hypophosphatasia / ultrasonography*
Pregnancy Trimester, First
Sensitivity and Specificity
Ultrasonography, Prenatal*

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