The role of ultrasound in the diagnosis of fetal genetic syndromes
Identifieur interne : 003460 ( Pmc/Corpus ); précédent : 003459; suivant : 003461The role of ultrasound in the diagnosis of fetal genetic syndromes
Auteurs : Shayna N. Conner ; Ryan E. Longman ; Alison G. CahillSource :
- Best practice & research. Clinical obstetrics & gynaecology [ 1521-6934 ] ; 2014.
Abstract
The use of ultrasound in the prenatal diagnosis of fetal genetic syndromes is rapidly evolving. Advancing technology and new research findings are aiding in the increased accuracy of ultrasound-based diagnosis in combination with other methods of non-invasive and invasive fetal testing. Ultrasound as a screening tool for aneuploidy and other anomalies is increasingly being used throughout pregnancy, beginning in the first trimester. Given the number of recorded syndromes, it is important to identify patterns and establish a strategy for identifying abnormalities on ultrasound. These syndromes encompass a wide range of causes from viral, substance-linked, chromosomal, and other genetic syndromes. Despite the ability of those experienced in ultrasound, it is important to note that not all fetal genetic syndromes can be identified prenatally, and even common syndromes often have no associated ultrasound findings. Here, we review the role of ultrasound in the diagnosis of fetal genetic syndromes.
Url:
DOI: 10.1016/j.bpobgyn.2014.01.005
PubMed: 24534428
PubMed Central: 4079588
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<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101121582</journal-id><journal-id journal-id-type="pubmed-jr-id">22477</journal-id><journal-id journal-id-type="nlm-ta">Best Pract Res Clin Obstet Gynaecol</journal-id><journal-id journal-id-type="iso-abbrev">Best Pract Res Clin Obstet Gynaecol</journal-id><journal-title-group><journal-title>Best practice & research. Clinical obstetrics & gynaecology</journal-title></journal-title-group><issn pub-type="ppub">1521-6934</issn><issn pub-type="epub">1532-1932</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24534428</article-id><article-id pub-id-type="pmc">4079588</article-id><article-id pub-id-type="doi">10.1016/j.bpobgyn.2014.01.005</article-id><article-id pub-id-type="manuscript">NIHMS589557</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The role of ultrasound in the diagnosis of fetal genetic syndromes</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Conner</surname><given-names>Shayna N.</given-names></name><degrees>MD</degrees><xref rid="FN1" ref-type="author-notes">*</xref><aff id="A1">Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine,, Washington University, 4911 Barnes Jewish Hospital Plaza, Campus Box 8064, St. Louis, MO 63110, USA</aff></contrib><contrib contrib-type="author"><name><surname>Longman</surname><given-names>Ryan E.</given-names></name><degrees>MD</degrees><aff id="A2">Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Washington University in St Louis, St Louis, Missouri, USA</aff></contrib><contrib contrib-type="author"><name><surname>Cahill</surname><given-names>Alison G.</given-names></name><degrees>MD, MSCI</degrees><aff id="A3">Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Washington University in St Louis, St Louis, Missouri, USA</aff></contrib></contrib-group><author-notes><corresp id="FN1"><label>*</label>Corresponding author. Tel: +314 362 7300; Fax +314 747 1720; <email>conners@wudosis.wustl.edu</email> (S. Conner)</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>30</day><month>5</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>28</day><month>1</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>4</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>4</month><year>2015</year></pub-date><volume>28</volume><issue>3</issue><fpage>417</fpage><lpage>428</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.bpobgyn.2014.01.005</pmc-comment>
<permissions><copyright-statement>© 2014 Elsevier Ltd. All rights reserved.</copyright-statement><copyright-year>2014</copyright-year></permissions><abstract><p id="P2">The use of ultrasound in the prenatal diagnosis of fetal genetic syndromes is rapidly evolving. Advancing technology and new research findings are aiding in the increased accuracy of ultrasound-based diagnosis in combination with other methods of non-invasive and invasive fetal testing. Ultrasound as a screening tool for aneuploidy and other anomalies is increasingly being used throughout pregnancy, beginning in the first trimester. Given the number of recorded syndromes, it is important to identify patterns and establish a strategy for identifying abnormalities on ultrasound. These syndromes encompass a wide range of causes from viral, substance-linked, chromosomal, and other genetic syndromes. Despite the ability of those experienced in ultrasound, it is important to note that not all fetal genetic syndromes can be identified prenatally, and even common syndromes often have no associated ultrasound findings. Here, we review the role of ultrasound in the diagnosis of fetal genetic syndromes.</p></abstract><kwd-group><kwd>ultrasound</kwd><kwd>genetic</kwd><kwd>syndrome</kwd><kwd>anomalies</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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