Document Detail


First trimester detection of structural abnormalities and the role of aneuploidy markers.
MedLine Citation:
PMID:  21845742     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: To determine the sensitivity of first-trimester ultrasound for diagnosing different structural anomalies in chromosomally normal pregnancies, and the role of aneuploidy markers in the detection of abnormalities. METHODS: This was a retrospective study including chromosomally normal singleton pregnancies with a 11-14 week scan performed in our center during the 2002-2009 period. The ultrasound examination included an early fetal anatomy survey and assessment of nuchal translucency, ductus venosus blood flow and nasal bone. RESULTS: Among 14368 scanned first trimester pregnancies, 439 fetuses (3.2%) were found to present with structural anomalies, 194 with major and 245 with only minor anomalies. Forty nine percent of major structural anomalies were detected during the first trimester scan, the highest rates corresponding to acrania (17/17), holoprosencephaly (3/3), hypoplastic left heart syndrome (10/10), omphalocele (6/6), megacystis (7/8) and hydrops (8/9). Higher rates than expected were obtained for skeletal (69%) and cardiac defects (56%), coincidentally showing the highest presence of an increased nuchal translucency or an abnormal ductus venosus blood flow (38% and 52% respectively). Nasal bone appeared not to be associated with structural defects. CONCLUSIONS: About half of major structural abnormalities can be diagnosed in the first trimester. Increased nuchal translucency or abnormal ductus venosus blood flow appear to be associated with cardiac and skeletal defects and may facilitate an early detection. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.
Authors:
Maribel Grande; Marta Arigita; Virginia Borobio; Jose Miguel Jimenez; Susana Fernandez; Antoni Borrell
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-8-15
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  -     ISSN:  1469-0705     ISO Abbreviation:  -     Publication Date:  2011 Aug 
Date Detail:
Created Date:  2011-8-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.
Affiliation:
Department of Maternal-Fetal Medicine, Institute Gynecology, Obstetrics and Neonataology, Hospital Clínic Barcelona. Catalonia, Spain.
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