Document Detail

Intracardiac echogenic focus and trisomy 21 in a population previously evaluated by first-trimester combined screening.
MedLine Citation:
PMID:  20521868     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To determine the relation between intracardiac echogenic focus (ICEF) and trisomy 21 in a population of fetuses previously evaluated by first-trimester combined screening. DESIGN: Prospective study to evaluate the prevalence of trisomy 21 for four groups of pregnancies: those with isolated ICEF, those with ICEF and positive first-trimester combined screening, those with ICEF and other ultrasound markers, and those with ICEF, positive first-trimester combined screening and other ultrasound markers. SETTING: Teaching hospital. POPULATION: A total of 7,118 fetuses received first-trimester combined screening and a second-trimester fetal anatomical scan. METHODS: Amniocentesis for karyotyping was offered for those with positive result of first-trimester combined screening, and for those with the diagnosis of ICEF or other fetal chromosomal aneuploidy ultrasound markers in mid-trimester detailed fetal anatomical scans. MAIN OUTCOME MEASURES: The prevalence of trisomy 21 in each group. RESULTS: For the entire study population, 25 trisomy 21 cases were diagnosed prenatally (prevalence, 0.35%). Among fetuses with positive first-trimester combined screening results, the likelihood ratio of trisomy 21 was significantly increased for those with, as compared to without, ICEF (3.5 vs. 0.80, p = 0.012). However, among fetuses with negative first-trimester combined screening results, the likelihood ratios of trisomy 21 did not differ significantly between those with and without ICEF. CONCLUSION: In pregnancies complicated by isolated ICEF but lacking additional anomalies on ultrasonographic examination and exhibiting negative first-trimester combined screening results, fetal karyotyping is not indicated.
Shang-Yu Huang; Sheng-Wen Shaw; Ho-Yen Cheuh; Po-Jen Cheng
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Acta obstetricia et gynecologica Scandinavica     Volume:  89     ISSN:  1600-0412     ISO Abbreviation:  Acta Obstet Gynecol Scand     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-19     Completed Date:  2010-08-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370343     Medline TA:  Acta Obstet Gynecol Scand     Country:  England    
Other Details:
Languages:  eng     Pagination:  1017-23     Citation Subset:  IM    
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan, ROC.
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MeSH Terms
Cardiomyopathies / ultrasonography
Down Syndrome / diagnosis*
Fetal Heart / ultrasonography*
Heart Ventricles / embryology,  ultrasonography
Likelihood Functions
Middle Aged
Papillary Muscles / ultrasonography
Pregnancy Trimester, First*
Prospective Studies
Ultrasonography, Prenatal*

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