Document Detail


First trimester ultrasonography in screening and detection of fetal anomalies.
MedLine Citation:
PMID:  17304542     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
An obstetrical ultrasound examination provides invaluable information regarding the fetus. Until the mid-1980s, ultrasound in the first trimester was limited to localization of the pregnancy, establishing viability, and accurate dating. With the advent of high-resolution ultrasound and transvaginal scanning, a significant amount of information about the fetus can be gained and provided to the patient at a very early stage in gestation. This article provides an overview of the role of first trimester (11-13 + 6 weeks' gestation) ultrasound in screening and diagnosis of fetal anomalies. The first trimester is an ideal time for screening for aneuploidy, primarily due to the advantages that nuchal translucency (NT) measurement provides. NT measurement is also useful in establishing the risk of congenital cardiac disorders and a number of genetic and non-genetic syndromes. Significant NT thickening is associated with an increase in perinatal morbidity and mortality. Potential mechanisms resulting in increased NT are discussed. A number of new ultrasound markers for fetal aneuploidy have been investigated over the past several years, some of which appear to improve the screening efficacy of early ultrasonography. The role of these is reviewed. A number of fetal anomalies can now be consistently diagnosed in the first trimester. Their appearance at this early gestational age is discussed as well. It is clear that, data obtained by first trimester ultrasound are useful in counseling expectant parents and in planning the appropriate follow-up.
Authors:
Jiri Sonek
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part C, Seminars in medical genetics     Volume:  145C     ISSN:  1552-4868     ISO Abbreviation:  -     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-02-27     Completed Date:  2007-05-29     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235745     Medline TA:  Am J Med Genet C Semin Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  45-61     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
Affiliation:
Maternal-Fetal Medicine/Ultrasound and Genetics, Miami Valley Hospital, Dayton, OH 45409, USA. JDSonek@mvh.org
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MeSH Terms
Descriptor/Qualifier:
Aneuploidy
Biological Markers / analysis
Female
Fetus / abnormalities*,  physiopathology
Humans
Nuchal Translucency Measurement / methods*
Pregnancy
Pregnancy Trimester, First*
Ultrasonography, Doppler
Ultrasonography, Prenatal / methods*
Chemical
Reg. No./Substance:
0/Biological Markers

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