| First-trimester sonographic findings in trisomy 18: a review of 53 cases. | |
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MedLine Citation:
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PMID: 20112232 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To report our experience with first-trimester sonographic findings in pregnancies complicated by trisomy 18. METHODS: Proven cases of trisomy 18 undergoing sonographic examination between 11 + 0 and 13 + 6 weeks of gestation were retrospectively identified. Information on maternal demographics, prenatal sonographic findings, and chromosomal analysis results was obtained by reviewing the ultrasound reports and medical records. RESULTS: During the 12-year period from July 1997 to June 2009, 53 cases of full trisomy 18 had first-trimester sonographic examination performed at our institution. All but one fetus displayed one or more abnormal sonographic finding, most commonly increased nuchal translucency thickness (n = 48, 91%). Absent or hypoplastic nasal bone was documented in 53% of the fetuses in which this marker was specifically looked for. Structural anomalies included omphalocele in 11 (21%), abnormal posturing of the hands in three (6%), megacystis in two (4%), and abnormal four-chamber view of the heart in two (4%). Early-onset fetal growth restriction and bradycardia were documented in 14 (26%) and 4 (8%) of the cases, respectively. CONCLUSIONS: Our study demonstrates that a large number of fetuses with trisomy 18 have abnormal sonographic findings in the first trimester. However, the sonographic features usually found in the second-trimester are difficult to detect at an early gestational age. The recognition of the specific first-trimester sonographic pattern of trisomy 18 may allow improved detection of this serious condition in early pregnancy. |
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Authors:
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Waldo Sepulveda; Amy E Wong; Victor Dezerega |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Prenatal diagnosis Volume: 30 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-01 Completed Date: 2010-06-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 256-9 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2010 John Wiley & Sons, Ltd. |
Affiliation:
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Fetal Medicine Center, Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile. fetalmed@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
ultrasonography* Chromosomes, Human, Pair 18* Congenital Abnormalities / genetics, ultrasonography* Female Fetal Diseases / genetics, ultrasonography* Fetal Growth Retardation / genetics, ultrasonography Humans Male Neck / embryology, ultrasonography Nuchal Translucency Measurement Pregnancy Pregnancy Trimester, First Trisomy* Ultrasonography, Prenatal / methods* |
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