Document Detail


Prenatal diagnosis of trisomy 18 as true mosaicism by three-dimensional ultrasonography: a case report.
MedLine Citation:
PMID:  16721579     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Trisomy of chromosome 18 is the second most common autosomal trisomy, occurring in approximately 1:7,000 live births. Its prenatal diagnosis through abnormal findings in ultrasound with later analysis of fetal karyotype is important for a definition of the prognosis and counseling of the patients. We describe a case of trisomy 18 as true mosaicism diagnosed through amniocentesis in the second trimester of pregnancy, associated to the presence of multiple fetal phenotypic alterations. We focus on the importance of fetal morphological study through three-dimensional ultrasonography, which was highly important for clearly showing the fetus' structural alterations, helping parents to understand better the pathology and allowing them to reason about the continuity of the gestation.
Authors:
Hélio Antonio Guimarães Filho; Edward Araujo Júnior; Rosiane Mattar; Cláudio R Pires; Sebastião Marques Zanforlin Filho; Antonio F Moron; Luciano Marcondes Machado Nardozza; Luciano Marcondes Machado Nardoza
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2006-05-24
Journal Detail:
Title:  Archives of gynecology and obstetrics     Volume:  275     ISSN:  0932-0067     ISO Abbreviation:  Arch. Gynecol. Obstet.     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-03-05     Completed Date:  2007-10-30     Revised Date:  2008-10-22    
Medline Journal Info:
Nlm Unique ID:  8710213     Medline TA:  Arch Gynecol Obstet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  133-5     Citation Subset:  IM    
Affiliation:
Reinaldo Tavares de Melo Street, 142/901, Manaíra, João Pessoa, Paraíba, ZIP 58038-300, Brazil. helioagf@uol.com.br
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Amniocentesis
Chromosomes, Human, Pair 18 / genetics*
Female
Fetal Diseases / genetics,  ultrasonography*
Humans
Imaging, Three-Dimensional / methods*
Mosaicism*
Pregnancy
Trisomy* / genetics
Ultrasonography, Prenatal / methods*
Comments/Corrections
Erratum In:
Arch Gynecol Obstet. 2008 Oct;278(4):399
Note: Nardoza, Luciano Marcondes Machado [corrected to Nardozza, Luciano Marcondes Machado]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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