Indications and findings of fetal echocardiography: a retrospective analysis of a high-risk cohort in a polish center.

The association of congenital heart defects with trisomy 21 was reported over 50 years ago and heart defects remain one of the most common and lethal abnormalities present postnatally in individuals affected by Down syndrome1–4. The purpose of this Editorial is to review the use of second-trimester fetal echocardiography as an adjunct to the genetic sonogram from a clinical perspective, based on my experience over the past 20 years5–13. The following topics are discussed as they relate to trisomy 21: (1) the incorporation of ultrasound evaluation of the fetal heart as part of the genetic sonogram and comparison of it with other screening modalities from a historical perspective; (2) the postnatal incidence of congenital heart defects; (3) the prenatal incidence of structural and functional heart abnormalities; (4) the relative risk for various cardiac findings; and (5) the suggested use of fetal echocardiography as part of the genetic sonogram given current screening technologies.

Chromosomal abnormalities are major causes of perinatal death and childhood handicap. Consequently, the detection of chromosomal disorders constitutes the most frequent indication for invasive prenatal diagnosis. However, invasive testing, by amniocentesis, chorionic villus sampling (CVS) or cordocentesis, is associated with a risk of miscarriage of about 1% and therefore these tests are carried out only in pregnancies considered to be at high-risk for chromosomal defects. The methods of screening to identify the high-risk group are maternal age, ultrasound findings at 11–14 weeks and/or in the second trimester and maternal serum biochemical testing at 11–14 weeks and/or in the second trimester.

Objective: To evaluate the clinical impact of fetal echocardiography before 16 weeks’ gestation on the management of pregnancies with fetuses at risk of congenital heart disease. Design and setting: Observational...

Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology. Aim of the review was to summarize the current knowledge about fetal LVHT, including clinical presentation, associated cardiac and extracardiac abnormalities and outcome. In 88 cases, LVHT was diagnosed by fetal echocardiography. In 36 %, no additional cardiac abnormalities were reported; in the remaining 64 %, one or more cardiac abnormalities were reported. Eight cases died prenatally, 17 were electively terminated, and 24 patients died after birth. Six patients were lost to follow-up, and 33 patients are alive at a mean age of 26 months. Surviving cases presented less frequently with fetal hydrops (13 vs. 62 %, p = 0.0004), complete heart block (27 vs. 78 %, p = 0.0076), more than three associated cardiac abnormalities (9 vs. 47 %, p = 0.0008) and more frequently with isolated LVHT (52 vs. 19 %, p = 0.009) than cases who died. Of the surviving patients, 16 received pharmacotherapy, three received pacemakers, eight underwent surgical procedures and four underwent heart transplantation. Postnatal regression of left ventricular hypertrophy and development of LVHT was found in four cases, improvement in cardiac function in two, and regression of right VHT in two. At autopsy, endocardial fibrosis was the most frequent abnormality in 92 %. Thirty-eight percentage of cases with fetal LVHT survived. Fetal and postnatal echocardiographic findings challenge the "embryonic pathogenetic" hypothesis of LVHT. Furthermore, fetal pathoanatomic findings like endocardial fibrosis might play a role in clarifying the still unsolved pathogenesis of LVHT.

Echogenic Intracardiac Foci (EIF) are non-structural markers identified during the routine 18-20-week foetal anomaly ultrasound scan yet their clinical significance on future outcomes for the infant is unclear. To examine the association between EIF and risk of preterm birth, chromosomal abnormalities, and cardiac abnormalities. A review across four databases to identify English language journal articles of EIF using a cohort study design. All studies were reviewed for quality using the Critical Appraisal Skills Programme (CASP) checklist and data extracted for comparison and analysis. 19 papers from 9 different countries were included. Combining these studies showed 4.6% (95% CI = 4.55-4.65%) of all pregnancies had EIF which was on the left in 86% of cases, on the right in 3% of cases and bilaterally in 10%. There was no evidence that EIF was associated with higher rates of preterm birth. However, it is possible that infants with EIF were more likely to be terminated rather than be born preterm as there was a 2.1% (range 0.3-4.2%) rate of termination or death of the foetus after week 20 among those with EIF. There was no evidence that EIF alone is highly predictive of chromosomal abnormalities. There was evidence that EIF is associated with higher rates of minor cardiac abnormalities (e.g. ventricular septal defect, tricuspid regurgitation or mitral regurgitation)) with 5.1% (224 of 4385) of those with EIF showing cardiac abnormalities (3.08% in retrospective studies and 17.85% in prospective studies). However, the risk of cardiac defects was only higher with right-sided EIF and where the EIF persisted into the third trimester. However, this is a rare event and would be seen in an estimated 4 per 10,000 pregnancies. EIF alone was not associated with adverse outcomes for the infant. Only persistent EIF on the right side showed evidence of carrying a higher risk of cardiac abnormality and would warrant further follow-up.

Sensitivity, specificity, and accuracy of fetal echocardiography for high-risk pregnancies in a tertiary center in Egypt

In 2006 the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) published practice guidelines for the sonographic screening of congenital heart disease (CHD) during the second trimester of pregnancy1. This document described two levels for screening low-risk fetuses for heart anomalies. Firstly, a ‘basic’ scan should be performed by analyzing a four-chamber view of the fetal heart. Secondly, an ‘extended-basic’ scan further examines the size and relationships of both arterial outflow tracts. The term ‘fetal echocardiogram’ was also mentioned as a more detailed sonographic evaluation to be performed by specialists in the prenatal diagnosis of CHD. Although common indications and imaging techniques were briefly discussed, it was thought important to further explain how this advanced diagnostic procedure differs from the basic and extended-basic cardiac screening examinations. A Fetal Echocardiography Task Force was subsequently asked to develop a standard description of ‘what constitutes a fetal echocardiogram’. Our original goal was to develop guidelines for a detailed examination of the fetal heart that were based on the literature and a consensus opinion of an expert panel. However, we soon realized that this project was quite different from developing minimum practice guidelines for fetal cardiac screening. There are several imaging modalities that can be used to evaluate fetal heart anomalies, ranging from M-mode techniques and color Doppler sonography to the use of four-dimensional (4D) ultrasonography with spatiotemporal image correlation (STIC). Consequently, our original efforts to develop a minimum practice guideline for fetal echocardiography evolved into a consensus statement that covers the following topics:

Objective: To analyze the type and characteristics of fetal cardiac abnormalities and their relationships with genetic abnormalities and clinical prognosis. Methods: The clinical data of 162 pregnant women with fetal cardiac abnormalities who came to the prenatal diagnosis center of Peking University First Hospital and performed genetic tests from February 2013 to February 2021 were reviewed. Genetic testing methods included chromosome karyotype analysis, array-based comparative genomic hybridization (aCGH) and pathogenic gene detection. Fetuses with isolated cardiac abnormalities and no fatal genetic abnormalities were assessed using the fetal cardiac birth defects clinical outcome score and followed up. Results: (1) Ultrasonography results: among the 162 fetuses, 86 cases (53.1%, 86/162) had isolated cardiac abnormalities, and 76 cases (46.9%, 76/162) had extra-cardiac abnormalities; single cardiac abnormalities were in 84 (51.9%,84/162) cases, and multiple cardiac abnormalities occurred in 78 cases (48.1%,78/162). (2) Genetic examination results: there were 39 cases (24.1%, 39/162) of pathogenic genetic abnormalities, including 35 cases (21.6%, 35/162) of pathogenic chromosome karyotype abnormality, 3 cases (1.9%, 3/162) of pathogenic copy number variant (CNV), and 1 case (0.6%, 1/162) of pathogenic gene variation. The detection rates of pathogenic genetic abnormalities were 16.3% (14/86) in fetuses with isolated cardiac abnormalities and 32.9% (25/76) in fetuses with cardiac abnormalities and extra-cardiac abnormalities, and the difference was statistically significant (χ2=6.094, P=0.014). The detection rate of genetic abnormalities was 28.6% (24/84) in the single cardiac abnormalities, among which ventricular septal defect was 36.7% (11/30), atrioventricular septal defect was 8/13, tetralogy of Fallot was 3/17, persistent trancus arteriosus was 1/1, cardiac tumor was 1/1; no genetic abnormality was detected in the other single cardiac abnormality types (22 cases in total). The main types of pathogenic genetic abnormalities were trisomy 21 (41.7%, 10/24) and trisomy 18 (41.7%, 10/24). (3) Pregnancy outcome and fetal prognosis: among 72 fetuses with isolated heart abnormalities without pathogenic genetic abnormalities, there were 4 cases of grade Ⅰ, all of which continued pregnancy; 39 cases of grade Ⅱ, with 21 cases induced labor, 18 cases continued pregnancy; 26 cases of grade Ⅲ, with 23 cases induced labor, 3 cases continued pregnancy; 3 cases of grade Ⅳ, all of which induced labor. Totally, there were 47 cases induced labor and 25 cases continued pregnancy, 24 cases (96.0%, 24/25) of which were alive. Conclusions: When fetal cardiac abnormalities are detected by prenatal ultrasound, comprehensive cardiac and extra-cardiac ultrasound assessment and further genetic testing are recommended. Fetuses excluded pathogenic genetic abnormalities and extra-cardiac abnormalities should perform clinical prognostic score evaluation through multidisciplinary collaboration, to improve maternal and fetal outcomes.

Objective To summarize the pathological significance of retrograde flow in fetal aortic arch by analyzing the associated diseases and hemodynamic characteristics. Methods A retrospective study on retrograde flow in fetal aortic arch was conducted on fetuses with intra- or extra-cardiac abnormality. All data were collected from the database of Fetal Heart Disease Maternal Fetal Medicine Research Important Laboratories in Beijing from January 2013 to October 2016. Fetuses with normal cardiac structure and without extra-cardiac abnormality in late pregnancy were excluded from this study. Ultrasound images with description of retrograde flow in fetal aortic arch in report or presenting retrograde flow signal during scanning were recruited. All selected cases were reviewed and the diagnosis was reconfirmed. The signal of retrograde flow in the aortic arch was that the direction of blood flow in the aortic arch was inconsistent with that of the ductus arteriosus. Spectral Doppler was used to define systolic or diastolic retrograde flow and all cases were divided into four groups accordingly: middle-late systole, systole, diastole, systole+diastole for analysis. The etiology of retrograde flow in the aortic arch was analyzed based on cardiac structure abnormality and extra-cardiac abnormality. Clinical outcomes were followed up. Descriptive statistics was used to analyze all the data. Results (1) Among 21 607 cases reviewed, 62 (0.29%) were recruited with the mean gestational age of (29.5±4.6) weeks and and average age of (26.1±2.9) years, respectively. (2) Fifty-eight (93.5%) of the 62 cases were diagnosed with cardiac structure and/or cardiac function abnormality, including 44 of left ventricular outflow abnormality and 14 of significantly reduced left ventricular volume with normal left ventricular function. The other four cases (6.5%) with extra-cardiac abnormality were all complicated with abnormal peripheral circulation resistance in fetal systemic circulation, which included intrauterine growth restriction resulting from placental insufficiency (three cases) and cerebral arteriovenous fistula (one case). (3) Retrograde flow filling the whole aortic arch was found in 32 cases (51.6%) with severe aortic stenosis or atresia, one (1.6%) with severe aortic regurgitation caused by absence of aortic valve and one (1.6%) with cerebral arteriovenous fistula. Retrograde flow with other causes mainly presented in the middle part and the distal isthmus of the aortic arch. (4) Retrograde flow presented in the middle and late systole was observed in 24 cases (38.7%) of significantly reduced left ventricular volume with normal left ventricular function, while those presented in the diastole were found in cases with severe aortic regurgitation, large coronary fistula, or abnormal peripheral circulation resistance (six cases, 9.7%). Thirty-two fetuses (51.6%), diagnosed with left ventricular outflow tract obstruction, showed retrograde flow in both systole and diastole. (5) Among the 62 pregnancies, 46 (74.2%) were terminated, one (1.6%) ended due to fetal intrauterine death, and the other 15 (24.2%) continued to delivery (13 of term pregnancy, and two of preterm pregnancy). Autopsies were performed on 26 out of the 46 terminated fetuses, and the results were consistent with the fetal echocardiography. Of the 15 newborns, one died due to extra-cardiac abnormality, and the other 14 (four underwent operation) remained well in development and heart function during follow-up until March, 2017. Conclusions The retrograde flow signal in the aortic arch is commonly seen in fetal cardiac structural and/or functional abnormality. Hemodynamic characteristics of the retrograde flow may vary depending on the etiology. Therefore, clinicians should pay attention to analyze the hemodynamics in combination with ultrasound findings to identify the etiology and to improve the accuracy of fetal echocardiography. Key words: Fetal diseases; Aortic valve insufficiency; Hemodynamics

Aim: The aim of our study is to determine the prevalence of intracardiac echogenic focus and to investigate the possible association of congenital heart diseases in risky pregnancies. Materials and Methods: A total of 380 pregnant women who were in the 17th to 36th week of gestation were included in our study. The patients were classified as low risk and high risk groups according to various referral reasons such as any drug usage, presence of chromosomal or fetal anomalies, number and characteristics of previous pregnancies, congenital or acquired heart diseases in the family and presence of family history. Results: Based on the selective criteria 134 (35.26%) pregnant women were classified as the low-risk group while 246 (64.74%) pregnant were classified as the high-risk group. Maternal diabetes (13.16%) was the most common reason for referral in the high-risk group. However, in the low-risk pregnancies, lack of good image of the fetal heart by ultrasonography was the major reason for referral (21.05%). Intracardiac echogenic foci were detected in total of 77 (20.26%) cases, which of 68 (50.75%) cases were in the low-risk group and 9 (3.66%) cases were in the high-risk group. Left ventricular echogenic foci were detected in 59 (44.03%) fetuses in low-risk pregnancies and 4 (1.63%) fetuses in high-risk pregnancies (p=0.001). Additionally, only one fetus in low-risk pregnancy and one fetus in high-risk pregnancy had echogenic foci in one of the ventricles with congenital heart diseases. Conclusion: In conclusion, we found the prevalence of intracardiac echogenic foci in low-risk pregnancies as 50.75% which was higher than in high-risk pregnancies. This can be attributed to ethnicity, tertiary hospital referrals, relatively low number of patients and other associated factors. Additionally, in our study, no correlation was found between congenital heart diseases and intracardiac echogenic foci in both low- and high-risk pregnancies.

Cardiac screening examination of the fetus: guidelines for performing the ‘basic’ and ‘extended basic’ cardiac scan

Background: Accurate evaluation of extra cardiac and intra cardiac anomalies in congenital heart diseases (CHD) is vital for diagnosis and treatment. Trans-thoracic echocardiography (TTE) is the classical choice for children suspected to have CHD because TTE is safe, readily available and its capacity to perform Doppler flow studies therefore can measure hemodynamic parameters. Plus its ability to evaluate intra cardiac abnormalities like atrial septal defect and ventricular septal defect. Therefore, owing to its lower spatial resolution and limited acoustic window; it is not precise in evaluation of extra cardiac abnormalities. Aim of the Work: to evaluate the advantage of recent advances of ECG gated MDCT in diagnosis of congenital heart disease in pediatrics and assessment of associated extra cardiac abnormalities within the great vessels in comparison with echocardiography findings. Patients and Methods: The current study was carried out on 36 patients in Radio-diagnosis Department, Faculty of medicine, Ain Shams University and specialized private radiology centers. The patients were referred from pediatric hospital, cardiology clinic with their echocardiographic reports to radio-diagnosis department, cardiac imaging unit with a view to execute ECG- gated multi-slice CT of the heart & extra-cardiac great vessels. Results: In this study aortic anomalies represent the most common extra-cardiac anomalies accounting for 36.5% of our cases while comprising: Supravalvular aortic stenosis; 4.3%, Aortic CoA; 26.1%, arch anomalies with vascular rings; 52.2% and finally anomalous coronary arteries; 17.4%. By Using MDCT we were able to delineate eight cases of right aortic arch (RAA).Two of them with aberrant left subclavian artery (ALSCA) adding to two cases of left aortic arch with an aberrant right subclavian artery (ARSCA). On the other hand ,TTE failed to identify 6 cases of RAA with a sensitivity 75%, specificity 100%, NPV 96.61% and one case of ALSCA with a sensitivity 50.0%, specificity 100%, NPV 98.41% .Regarding coronary anomalies , Cardiac CTA succeeded in characterization of origin and course of all coronary abnormalities encountered in our study encompassing 4 cases specifically anomalous LAD from right coronary sinus running a prepulmonic course anterior to RVOT , RCA from LAD and single coronary artery adding to LCX- RV coronary fistula. While TTE failed to depict two cases of the coronary anomalies with a sensitivity of 50%, specificity 100%, PPV 100% and NPV 96.83%. Conclusion: CTA can provide the confident detection and exclusion of extra- cardiac vascular abnormalities with superb anatomical description which was feasible with a sensitivity 98.41%, specificity 99.76%, PPV 96.88% and NPV 99.88%.

Objective To investigate the clinical value of prenatal diagnosis of fetal double outlet ventricle. Methods The data of double outlet ventricle from fetal echocardiography in Second Xiangya Hospital of Central South University and Changde Women and Children Health Hospital of Hunan Province from January 2000 to August 2018 were collected. The statistical method was used to analyze characteristics of echocardiography, related-intracardiac and extracardiac abnormalities, postnatal echocardiography, surgery and autopsy findings. Results Ninety-four fetuses were diagnosed with double outlet ventricle, including 84 cases of double outlet right ventricle(DORV) and 10 cases of double outlet left ventricle(DOLV). The pregnancy was terminated in 45 cases. Autopsy was offered to all patients after termination of pregnancy, 42 cases were consistent with prenatal diagnosis, 1 case was tetralogy of fallot, 2 cases were transposition of great artery. Forty-nine cases were decided to continue the pregnancy, 32 cases of them were confirmed by postpartum surgery, 17 cases were confirmed by postnatal echocardiography. Echocardiographic findings of fetal double outlet ventricle was characterized by the origin of the both great arteries arising predominantly or completely(>50%) from the same ventricle. Conclusions Prenatal ultrasound diagnosis of double outlet ventricular has important clinical value, facilitate appropriate prenatal counseling and postnatal management and it should be differentiated with transposition of the great arteries, tetralogy of fallot and ventricular septal defect. Key words: Ultrasonography; Fetus; Prenatal diagnosis; Double outlet ventricular; Congenital heart disease; Cardiac operation

American society of echocardiography guidelines and standards for performance of the fetal echocardiogram

To determine the relation between intracardiac echogenic focus (ICEF) and trisomy 21 in a population of fetuses previously evaluated by first-trimester combined screening. 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. Teaching hospital. A total of 7,118 fetuses received first-trimester combined screening and a second-trimester fetal anatomical scan. 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. The prevalence of trisomy 21 in each group. 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. 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.