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心脏内强回声灶胎儿的染色体及心脏异常

Chromosomal and cardiac anomalies in fetuses with intracardiac echogenic foci.

作者信息

Gonçalves T R M, Zamith M M, Murta C G V, Bussamra L C, Torloni M R, Moron A F

机构信息

Fetal Medicine Unit of Hospital e Maternidade Santa Joana, São Paulo, SP, Brazil.

出版信息

Int J Gynaecol Obstet. 2006 Nov;95(2):132-7. doi: 10.1016/j.ijgo.2006.06.020. Epub 2006 Sep 25.

DOI:10.1016/j.ijgo.2006.06.020
PMID:16999964
Abstract

OBJECTIVE

To evaluate the prevalence of intracardiac echogenic foci (ICEF) and the association between ICEF and chromosomal and cardiac anomalies in Brazilian women.

METHODS

In a cross-sectional observational study, 373 of the 23,360 genetic sonograms performed at a private maternal-fetal medicine clinic over 5 years showed intracardiac echogenic foci (ICEF). These 373 sonograms were reviewed for chromosomal and cardiac anomalies and associations were analyzed using the chi(2) test or the Fisher exact test. P<0.05 was considered significant.

RESULTS

The prevalence of ICEF was 1.7%. Cardiac anomalies were detected in 10 sonograms (2.7%) and chromosomal anomalies in 14 (3.7%). There were cardiac defects in 6 (1.7%) of the 359 euploid fetuses with isolated ICEF. Of the 373 women who had fetuses with ICEF, 295 were younger than 35 years and 78 were 35 years or older. There were 6 fetuses (2.1%) with aneuploidy in the younger group and 8 (10.3%) in the older group.

CONCLUSION

The prevalence of ICEF was 1.7%, and there was an association between cardiac and chromosomal anomalies. Women carrying fetuses with ICEF should be offered fetal echocardiography and karyotyping.

摘要

目的

评估巴西女性心内强回声灶(ICEF)的患病率以及ICEF与染色体和心脏异常之间的关联。

方法

在一项横断面观察性研究中,一家私立母婴医学诊所5年间进行的23360次基因超声检查中有373次显示有心内强回声灶(ICEF)。对这373份超声检查结果进行染色体和心脏异常评估,并使用卡方检验或Fisher精确检验分析相关性。P<0.05被认为具有统计学意义。

结果

ICEF的患病率为1.7%。在10份超声检查结果中检测到心脏异常(2.7%),14份中检测到染色体异常(3.7%)。在359例单纯ICEF的整倍体胎儿中,有6例(1.7%)存在心脏缺陷。在373例胎儿有ICEF的女性中,295例年龄小于35岁,78例年龄在35岁及以上。年轻组中有6例胎儿(2.1%)为非整倍体,老年组中有8例(10.3%)。

结论

ICEF的患病率为1.7%,心脏和染色体异常之间存在关联。应向怀有ICEF胎儿的女性提供胎儿超声心动图检查和染色体核型分析。

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Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy.拷贝数变异检测在孕期胎儿心脏强回声光斑诊断中的应用。
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