The Significance Of Intracardiac Echogenic Foci In Prenatal Diagnosis

Backgroud：An echogenic focus is defined as a structure within the fetal heart with echogenicitysimilar to, or greater than, the surrounding bone.These structures appear near the papillarymuscle and papillary muscle, and move with the mitral leaflets throughout the cardiaccycle. Its etiology is not clear. Most authors considered it was result of increasedmineralization of the papillary muscles. Some authors considered it was probably a normalvariant of papillary muscle development,not relationship with the heart cancer or heartdefects.But some authors considered it was a risk of aneuploidy or congenital heart defects.Intracardiac echogenic foci in fetus are very frequent findings during routine fetalexamination.Even now,the controversy concerning the need to perform an echocardiogramand even diagnostic amniocentesis in all fetuses with an echogenic focus previously identified during a routine obstetric scan is still remain.Part one The prevalence of ICEF and the influence factorsObjective: The purpose of this study is to evaluate the prevalence of ICEF observedduring targeted ultrasound examination and to determine the influence factors.Methods: A prospective study to analyze a cohort of patients who underwent ultrasoundscreening from August31,2011to December30,2012in the OBGYN Ultrasound unit inXijing Hospital. Fetal echocardiographic genetic sonography could be used for patientswith ICEF abserved during targeted ultrasound examination. A control group was selectedfrom among the same group of patients according to the same age,the same maternalweeks and the same date. Data were collected from the sonography reports, prenatalrecords, and sonographic images of4-chamber heart views; Maternal characteristics andsonographic details were recorded by specific researcher.Calculated the prevalence ofICEF and summarize the characteristic of ICEF.To analyze the difference between theICEF group and the control in maternal fasting blood-glucose,2hour postprandial bloodglucose,HGB,BMI and the abdominal adipose tissue thickness.And to evaluate whetherharmful environmental factors before pregnacy and in pregnancy, anemia and diabetescomplicating pregnancy, high risk of combined screening and TORCH infection wouldaffct the detection of ICEF.Results:During a16-month period,3665women underwent a targeted ultrasoundexamination. A total of524fetuses with ICEF finding were identified. The incidence ratewas14.3%.439fetuses (83.3%) had left,8(3.4%) had right whereas67(12.8%) hadbilateral ventricular ICEF. The prevalence of ICEF detection in the4-chamber heart viewswas100%.No significant difference was found between groups in terms of maternal age,maternal weeks,gravidy,BMI before pregnancy and NT thickness. A statisticallysignificant difference was found in maternal BMI,the abdominal adipose tissuethickness,HGB between two group. No significant difference was found between groupsin maternal fasting blood-glucose and2hour postprandial blood glucose. A significantdifference was found in incidence of harmful environmental factors before pregnacy and in pregnancy, anemia and TORCH infection between two group. No significant differencewas found in incidence of diabetes complicating pregnancy and high risk of combinedscreening.Conclusion：ICEF is a relatively common finding during targeted ultrasound examination.it appears that low maternal BMI, thiner maternal abdominal adipose tissue are factors forthe detection of these echogenic fetal findings.Part two The follow-up study of low-risk pregnacies with ICEFObjective:Follow up the outcome of the ICEF cases. Evaluate the affect of ICEF on thechild-birth.Methods: Screen out the not-risky singleton pregnancy among the524ICEF cases and524not-ICEF cases previously in the part one,and sceening out260ICEF cases and325not-ICEF cases. Follow up the result of fetal echocardiographic, aneuploid chromosomeand the outcome of fetuses.Compare the two group in the incidence of aneuploidy andcardiovascular marformations.Results:Out of the260fetuses with ICEF,11fetuses were found with cardiovascularmarformations and4fetuses were aneuploidy(2cases trisomy21and2case trisomy18).Among the4cases of aneuploidy,2cases were found with cardiovascularmarformations and the other2cases were found with ultrasound marformations:1casewas found with hyperechoic kidneys and the other was foung with choroid plexus cysts.There were9terminations of pregnancy and one postnatal death.1trisomy21cases werediagnosed prenatally in control group and then were abandoned.There were4non-complex congenital heart disease in control group,1perimembranous ventricularseptal defect and3muscular ventricular septal defect respectively. The prevalence ofcongenital heart disease in ICEF group were higher than control group.No significantdifference was found in incidence of aneuploidy.There were no significant differencefound between groups in terms of gestational weeks at delivery,Apgar score (1-min) andApgar score (5-min). The birth weight in ICEF group was less than the control.Conclusion:An ICEF in fetus with another ultrasound abnormalities increased the risk of heart abnormalities and aneuploid. Isolated ICEF in the fetal heart in the mid-trimester ofpregnancy seems not associated with the risk of heart abnormalities and aneuploidy. Theisolated ICEF probably was not the risk factor of aneuploidyPart three Correlation of intracardiac echogenic foci in fetuses withaneuploidy using the regression analysisObjective: To determine the correlation between intracardiac echogenic foci andaneuploidy in a population of fetuses previously evaluated by first-trimester andsecond-trimester combined screening and mid-trimester detailed fetal anatomical scans.Methods: Prospective study to follow the single uncomplication pregnancies who acceptedregular prenatal care and detailed fetal anatomical scans in Xijing Hospital fromNovember1,2011to December31,2012. Amniocentesis for karyotyping was offered forthose high-risk pregnancies. Evaluate the correlation between intracardiac echogenicfocus and aneuploidy using the logistic regression method.Results: The prevelance of aneuploidy of was significantly increased for the group withICEF as compared to the group without ICEF(P=0.0009).The prevelance of aneuploidy inisolated ICEF group was significantly1ower than that in group with not-isolated ICEFgroup(P=0.0012).According to the results of the regression analysis, the maternal agemore than35(OR=3.931),high-risk for the combined screening(OR=3.333), ultrasoundabnormality(OR=14.133) and the ICE(OR=3.097) were the risk of the aneuploidy.Conclusion: In pregnancies complicated by isolated ICEF,fetal karyotyping is notindicated.But if combined positive first-trimester combined screening results or additionalanomalies on ultrasonographic examination,the risk of aneuploidy would significantlyincrease.