First trimester ultrasonography in screening and detection of fetal anomalies.

Full Abstract

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.(c) 2007 Wiley-Liss, Inc.

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Author information

Author/s: Sonek, Jiri (J);

Affiliation: Maternal-Fetal Medicine/Ultrasound and Genetics, Miami Valley Hospital, Dayton, OH 45409, USA. JDSonek(-atsign-)mvh.org

Journal and publication information

Publication Type: Journal Article; Review

Journal: American journal of medical genetics. Part C, Seminars in medical genetics (Am J Med Genet C Semin Med Genet), published in United States. (Language: eng)

Reference: 2007-Feb; vol 145C (issue 1) : pp 45-61

Dates: Created 2007/02/27; Completed 2007/05/29; Revised 2008/05/21;

PMID: 17304542, status: MEDLINE (last retrieval date: 12/26/2008)

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Aneuploidy
Biological Markers - analysis
Female
Fetus - abnormalities; physiopathology
Humans

Nuchal Translucency Measurement - methods
Pregnancy
Pregnancy Trimester, First
Ultrasonography, Doppler
Ultrasonography, Prenatal - methods

Associated Chemicals: Biological Markers (0)

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