Operator experience impact on the evaluation of still images of a first trimester cardiac assessment protocol.

OBJECTIVE: Congenital heart disease (CHD) is the most common birth defect and represents the leading cause for mortality and morbidity in infants and young adults. Early fetal echocardiography is usually considered a highly specialized scan. The goal of this study is to evaluate the impact of operator's experience in assessing still images of the 4-chamber view and 3-vessels view and to evaluate the feasibility and the performance of a first trimester screening protocol for CHD. METHODS: An online questionnaire consisting of still images of the 4-camber view and 3-vessel view from 50 normal and abnormal cases was reviewed by an expert group made of seven obstetricians specialized in fetal medicine and a nonexpert group made of 13 obstetricians that are certified in ultrasound. After individually visualizing each image set made of the 4-chamber view and 3-vessel view, they had to conclude if the case was normal or abnormal and what images were abnormal. RESULTS: A total of 50 image sets of both normal and abnormal fetal hearts were examined by the 20 reviewers, resulting in 1000 evaluations. The expert group achieved a detection rate of 97.1% with a false positive rate of 5.7%. The nonexpert group achieved also a good detection rate of 91.3% but with a much higher false positive rate of 33.9%. The most frequently missed CHD involved the great arteries and had a normal 4-chamber view. In the majority of false positive cases the 3-vessel view was incorrectly interpreted as abnormal. CONCLUSIONS: A screening protocol for CHD, based on the 4-chamber view and 3-vessel view alone can offer a good detection rate for CHD with a small false positive rate, but only if it is implemented by highly specialized sonographers.

Accuracy of the Standardized Early Fetal Heart Assessment in Excluding Major Congenital Heart Defects in High-Risk Population: A Single-Center Experience.

OBJECTIVE: To evaluate the ability of standardized early fetal heart assessment (EFHA) that includes the 4-chamber view, outflow tract relationship (OTR), and transverse arches views (TAV) of the great arteries in excluding major congenital heart defects (CHDs) in high-risk populations. METHODS: This retrospective study included high-risk pregnancies for CHDs undergoing EFHA at 11-14 weeks of gestation. Risk factors for CHDs were diabetes mellitus, a family history of CHDs, a history of a CHD use of teratogenic medications, seizure disorder, assisted reproductive treatment-conceived pregnancy, presence of at least one of the ultrasound markers: enlarged nuchal translucency (>95th percentile), tricuspid regurgitation, and reversed a-wave in the ductus venosus, presence of an extracardiac or a suspected cardiac anomaly, a high-risk first trimester combined screen result, and multiple pregnancies. EFHA consisted of visualization of 4ChV, OTR, and TAV, with and without power Doppler ultrasound. The primary outcome was the negative predictive value of EFHA in excluding major CHDs. RESULTS: EFHA was performed on 1055 fetuses. Of these, 1024 were used for the final analysis. Of these, 94.9% (n = 923) were singleton. The most common indication for EFHA was maternal DM (n = 231, 22.6%). The sensitivity, specificity, false positive, false negative, and accuracy of EFHA were 93.2%, 99.9%, 1.4%, 0.4%, and 99.5% (P < .0001), respectively, in entire included cases. The performance of EFHA was 88%, 99.9%, 1.4%, 0.4%, and 99.5% (P < .0001) respectively when the terminated cases were excluded. CONCLUSION: Early fetal heart assessment is feasible for screening for major CHDs in high-risk populations. This approach may be expanded to the general obstetric population.

Prenatal echocardiographic assessment of right aortic arch.

OBJECTIVES: To report our experience with fetal diagnosis of right aortic arch (RAA) variants based on the ductus arteriosus (DA) anatomy and brachiocephalic vessel branching pattern in relation to the trachea, and to establish whether the echocardiographic 'V-shaped' or 'U-shaped' appearance of the junction between the DA and aortic arch (AA) in the fetal upper mediastinal view is sufficiently accurate for assessment of fetal AA anatomy. METHODS: This was a retrospective study of pregnancies with a prenatal diagnosis of fetal RAA that had postnatal confirmation of AA anatomy, referred to our tertiary center during 2011-2017. Prenatal and postnatal medical records, including echocardiographic and computed tomography (CT)/magnetic resonance imaging (MRI) scan reports, were reviewed, and cardiac and extracardiac abnormalities and the results of genetic testing were recorded. RESULTS: Of 55 consecutive pregnancies with a prenatal diagnosis of fetal RAA, six were lost to follow-up, one was terminated and three were excluded due to lack of postnatal confirmation of AA anatomy. Of the remaining 45 pregnancies, AA anatomy was assessed postnatally by CT in 39, by MRI in one and by direct examination at cardiac surgery in five. A U-shaped appearance was found in 37/45 (82.2%) patients, all of which had a complete vascular ring (CVR). Of these 37 patients, on postnatal confirmation, 21 (56.8%) had RAA with Kommerell's diverticulum, left posterior ductus arteriosus (LPDA) and aberrant left subclavian artery (ALSA) (RAA/LPDA/ALSA), 11 (29.7%) had a double AA (DAA), four (10.8%) had RAA with Kommerell's diverticulum, LPDA and mirror-image (MI) branching (RAA/LPDA/MI), and one (2.7%) had RAA with Kommerell's diverticulum, LPDA and aberrant left innominate artery (ALIA) (RAA/LPDA/ALIA). A V-shaped appearance was found in 3/45 (6.7%) patients, all of which had RAA with right DA not forming a CVR and MI branching. In the 5/45 (11.1%) fetuses with neither U- nor V-shaped appearance, RAA with left anterior DA arising from the left innominate artery and MI branching, not forming a CVR, was found. Twelve (26.7%) fetuses had a congenital heart defect (CHD). RAA forming a CVR (U-shaped appearance) was associated with a septal defect in 6/37 (16.2%) fetuses, while RAA not forming a CVR (V-shaped appearance or no U- or V-shaped appearance) was associated with major CHD in 6/8 (75.0%) fetuses. CONCLUSIONS: In fetuses with RAA, V-shaped appearance of the junction between the DA and AA indicates only that the transverse AA and DA run together on the same side of the thorax (trachea) while a U-shaped appearance is always a sign of a CVR. Among fetuses with a CVR, RAA/LPDA/MI is more frequent than described previously. Finally, RAA forming a CVR is not usually associated with complex CHD, as opposed to RAA not forming a CVR. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Assessment of cardiac angle in fetuses with congenital heart disease at risk of 22q11.2 deletion.

OBJECTIVES: To evaluate fetal cardiac angle as a screening tool for 22q11.2 deletion among cases with cardiac anomalies known to be associated with this genetic condition, to examine the correlation of fetal cardiac angle with thymic-thoracic (TT)-ratio, and to assess the performance of TT ratio as a covariate in screening for 22q11.2 deletion. METHODS: This was a retrospective cohort study that reviewed the records of 74 cases with cardiac anomalies known to be associated with 22q11.2 deletion (tetralogy of Fallot, common arterial trunk, interrupted aortic arch and right aortic arch) that were diagnosed between 2007 and 2013. The karyotype was known in all cases. The fetal cardiac angle and TT-ratio were measured using stored three-dimensional spatiotemporal image correlation volume datasets and compared in those with del.22q11.2 and those without. RESULTS: Of the 74 cases reviewed, 16 had 22q11.2 deletion. The mean cardiac angle was larger in the cases with 22q11.2 deletion than in those without (68.6° vs 58.7°, respectively; P = 0.02). Multivariate regression analysis showed an association between cardiac angle and TT-ratio in fetuses with 22q11.2 deletion (r(2) = 0.33; P = 0.02) but not in those with a normal karyotype (P = 0.4). Logistic regression analysis demonstrated that fetal cardiac angle, but not TT-ratio, is an independent predictor of 22q11.2 deletion among fetuses with 22q11.2 deletion-associated cardiac anomalies (P = 0.02; area under the receiver-operating characteristics curve = 0.69). CONCLUSIONS: An enlarged fetal cardiac angle is an independent predictor of 22q11.2 deletion among fetuses with 22q11.2 deletion-associated cardiac anomalies. However, its performance as a single variable in a screening model is not sufficient to guide management decisions regarding invasive testing.

[Ultrasound soft markers and fetal cardiac structural assessment at 11-14 weeks].

OBJECTIVE: To evaluate the detection rate of congenital heart defect (CHD) during the first trimester screening for chromosomal abnormalities, the role of ultrasound soft markers including increased nuchal translucency (NT), tricuspid regurgitation (TR) and abnormal ductus venosus (DV) flow in the screening for cardiac anomalies was also investigated. METHODS: From January 2009 to January 2012, 4 673 fetuses were scanned at 11-14 weeks at Department of Fetal Medicine, the First Affiliated Hospital of Jinan University. The ultrasound findings and follow up outcomes were recorded, False-positive rate of different first-trimester ultrasound markers for the detection of CHD was calculated, sensitivity of the markers for all major CHD was calculated as well. RESULTS: There was a significant association between major CHD and first trimester ultrasound markers. (1) Overall findings:among the 4 673 fetuses, 31 fetuses were diagnosed CHD prenatally, 17, 12 and 2 of which were detected in the first, second and third trimester, respectively. In 22 of the 31 CHD cases, invasive procedure was performed, fetal karyotype was abnormal in 12 cases, including triosmy 21 (5 cases), trisomy 18 (2 cases), trisomy 13 (2 cases), Turner syndrome (2 cases) and pericentric inversion of chromosome 9 (1 cases). (2) NT measurement and prenatal detected CHD: in 4 673 cases, NT measurement between 95(th)-99(th) percentile were present in 206 (4.41%) , 5 cases were diagnosed CHD prenatally, in 4 of 5 cases were detected in first trimester; NT measurement <95(th) percentile were present in 4 430 (94.80%) , 16 cases were diagnosed CHD prenatally, in 5 of 16 cases were detected in first trimester; NT measurement>99(th) percentile (>3.5 mm) were present in 37 (0.79%, 37/4 673) , 10 cases were diagnosed CHD prenatally, in 8 of 10 cases were detected in first trimester. (3) TR and inverted a-wave at the DV and prenatal detected CHD: among 4 673 cases, TR or inverted a-wave at the DV were present in 51 (1.09%) , 98 (2.10%) respectively. TR was present in 8 of 31 CHD cases, inverted a-wave at the DV was present in 7 of 31 CHD cases. (4) Sensitivity of different first trimester ultrasound markers for detection of major CHD cases:in 31 CHD cases diagnosed prenatally, 23 cased were defined as major CHD. Sensitivity of at least one of the ultrasound markers, NT measurement between 95(th)-99(th) percentile, >99(th) percentile( >3.5 mm), TR or inverted a-wave at the DV for detection of major CHD cases was 74% (17/23), 22% (5/23), 39% (9/23), 35% (8/23), 30% (7/23) , respectively. (5) Specificity of different first trimester ultrasound markers for detection of CHD cases:specificity of NT measurement between 95(th)-99(th) percentile, >99(th) percentile (>3.5 mm), TR or inverted a-wave at the DV for detection of major CHD cases was 4.30% (201/4 673),0.58% (27/4 673),0.92% (43/4 673), 1.94% (91/4 673). CONCLUSIONS: Routine first trimester soft markers for chromosomal abnormalities screening combined with cardiac assessment can detect quite a number of major heart defects. Increased NT, TR and abnormal DV flow can be important indicators for echocardiography, which is favorable to early prenatal diagnosis of CHD.

Assessment of the ductus arteriosus in fetuses with tetralogy of Fallot and the implication for postnatal management.

OBJECTIVE: To describe the antenatal and neonatal echocardiographic morphology and flow pattern of the ductus arteriosus in patients with tetralogy of Fallot. PATIENTS AND METHODS: We included patients with a prenatal diagnosis of tetralogy of Fallot between January 2006 and December 2012. RESULTS: Among the 52 fetuses with tetralogy of Fallot the severity of right ventricular outflow obstruction was considered mild in 32, moderate in 14, and severe in 6. In the mild right ventricular outflow obstruction group (n = 32) all had normal ductal morphology and flow pattern, eight (25%) elected for termination of pregnancy and two died in the neonatal period from extracardiac causes. In the moderate right ventricular outflow obstruction group (n = 14) the fetuses had a small ductus arteriosus with antegrade but abnormal flow velocity, one (7%) elected for termination of pregnancy. Immediately after birth the ductus arteriosus was very small or already closed at echocardiographic examination. Two out of 13 patients (15%) developed severe hypoxic spells and underwent modified Blalock-Taussig shunt during the neonatal period. Six fetuses were considered to have severe right ventricular outflow obstruction with flow reversal in the ductus arteriosus, three (50%) of whom elected for termination of pregnancy. The other three newborns underwent modified Blalock-Taussig shunt. CONCLUSION: In fetuses with tetralogy of Fallot, ductal diameter can be reduced even up to prenatal closure. Prenatal ductal morphology assessment may be useful for improving management of patients with moderate right ventricular outflow obstruction and small ductus arteriosus who may become cyanotic at birth.

Incremental diagnostic yield of pediatric cardiac assessment after fetal echocardiography in the offspring of women with congenital heart disease: a prospective study.

OBJECTIVE: We sought to determine the incremental diagnostic utility of pediatric cardiac assessment in the offspring of women with congenital heart disease who have had previous fetal echocardiography. PATIENTS AND METHODS: We prospectively followed pregnant women with congenital heart disease who were receiving care at 2 obstetric and cardiac centers and identified 276 infants who underwent both fetal echocardiography and pediatric cardiac assessment. All of the infants with abnormal fetal echocardiography findings or abnormal pediatric cardiac assessments underwent subsequent confirmatory pediatric echocardiography. RESULTS: In this cohort, congenital heart disease was detected in 22 (8%) of 276 offspring born to women with congenital heart disease. There was concordance between the results of fetal echocardiography and pediatric cardiac assessment in 235 (85%) of 276 offspring (231, both normal; 4, both abnormal) and discordance between the results of fetal echocardiography and pediatric cardiac assessment in 41 (15%) of 276 infants. In the 41 subjects with discordant results, there were normal fetal echocardiography findings but abnormal pediatric cardiac assessments in 35 of 41 (pediatric echocardiography revealed congenital heart disease in 18 of 35 and normal anatomy in 17 of 35) and abnormal fetal echocardiography findings but normal pediatric cardiac assessments in 6 of 41 (pediatric echocardiography findings normal in all 6 of the infants). Fetal echocardiography detected all of the major forms of congenital heart disease. Lesions missed by fetal echocardiography but detected on pediatric cardiac assessment included shunt lesions and minor valvular abnormalities. CONCLUSIONS: Although fetal echocardiography can reliably exclude major forms of congenital heart disease, minor congenital heart disease lesions can be missed on fetal echocardiography; however, these can be diagnosed with careful pediatric cardiac assessment. Postnatal pediatric cardiac assessment has incremental diagnostic utility for the detection of congenital heart disease in the offspring of women with congenital heart disease and previous fetal echocardiography.

Strain rate derived from color Doppler myocardial imaging for assessment of fetal cardiac function.

OBJECTIVE: Color Doppler myocardial imaging (CDMI) is a new multigated method that allows direct analysis of myocardial motion. It is superior to pulsed-wave tissue Doppler in its ability to generate new and important indices of myocardial function such as strain, strain rate and tissue tracking. The purpose of this study was to assess the feasibility of CDMI in the fetal heart. METHODS: Three normal fetuses of gestational ages 20 + 1, 28 + 1 and 36 + 0 weeks and a fetus of 20 + 3 weeks with aortic valve atresia were studied. Velocity data were acquired from the apical four-chamber view using a Vivid 7 ultrasound platform with integrated software for CDMI and with frame rates around 200/s. Data were post-processed using dedicated software and with the sample area placed at the subvalvular and middle part of the septum and the ventricular walls. RESULTS: CDMI was feasible in all fetuses. The fetus with aortic valve atresia had severely reduced strain rate of the left ventricular wall. CONCLUSIONS: Using this new technique it is possible to obtain information on the global and regional contractility of the fetal heart and thereby gain new insights into the physiology of the fetal cardiovascular system. CDMI is a promising new method for monitoring at-risk fetuses.

Cardiac function assessment in patients with family history of nonhypertrophic cardiomyopathy: a prenatal and postnatal study.

Nonobstructive cardiomyopathies (CMs) may be familial in 20â"55% of cases. Little is known about the role of fetal echocardiography in such cases. We evaluated the cardiac function serially pre- and postnatally in cases with a family history of nonobstructive CM. The fetal and postnatal studies were performed in the echocardiogarphy laboratory at a tertiary institution. Twenty-six cases from 16 families with a family history of CM were studied. Three fetal echocardiograms were performed at or near 18, 25, and 32 weeks of gestation for complete cardiac functional assessment. Postnatally clinical evaluation, electrocardiogram, and an echocardiogram were performed within the first 3 months, with serial reevaluation for those identified with CM. The mean follow-up was 46 +/- 9 months. Abnormal cardiac function was observed in 8 cases (30%). Six had a previously affected sibling, 1 had other family members affected, and 1 had both antecedents. Four had dilated CM diagnosed prenatally of which 1 recovered, 2 died in utero, and 1 died soon after birth. The remaining 4 had normal fetal echoes and were diagnosed with CM in the first 3 months of life. Three had dilated CM with recovery, and 1 had restrictive CM requiring cardiac transplantation. This study demonstrates a high familial recurrence rate of CM. Fetal echo is useful for early diagnosis, although a normal study does not preclude ventricular dysfunction at a later stage, justifying serial prenatal and postnatal evaluation. Early identification may expedite listing for transplantation.

Acardiac anomaly: current issues in prenatal assessment and treatment.

Acardiac anomaly is a rare condition affecting monochorionic multiple pregnancies. We review this condition with emphasis on its prenatal diagnostic features and treatment options. Due to the parasitic hemodynamic dependence of the acardiac twin on the pump twin, it is important to monitor the pump twin for signs of decompensation and, if indicated, intervene by interrupting vascular supply to the acardiac twin. The goal of treatment is to maximize the pump-twin's chance of survival. To assist with the decision of when to treat, we suggest a new classification system based on prognostic factors, specifically the size and growth of the acardiac twin and the cardiovascular condition of the pump twin. When the acardiac twin is small and no signs of cardiovascular impairment in the pump twin are present, we suggest serial ultrasound surveillance to detect any worsening of the condition. In cases with a large acardiac twin or rapid growth of the acardiac mass, we recommend prompt intervention. Once treatment is indicated, the intrafetal approach to interrupt the vascular supply to the acardiac twin appears to be superior to cord occlusion techniques as it is simpler, safer and more effective. The first line of treatment, if available, should be ultrasound-guided laser coagulation or radiofrequency ablation of the intrafetal vessels.

Doppler assessment of cardiac function at 11-14 weeks' gestation in fetuses with normal and increased nuchal translucency.

OBJECTIVE: To investigate cardiac dysfunction as a potential underlying mechanism for increased nuchal translucency (NT) in fetuses with chromosomal abnormality or heart defects. METHODS: Myocardial performance index (MPI) and atrioventricular valve E/A ratios for both sides of the heart were measured by Doppler echocardiography in fetuses at 11-14 weeks' gestation. The study groups consisted of 159 normal control fetuses, 199 otherwise normal fetuses but with increased NT > or = 4 mm, 142 fetuses with trisomy 21, 58 with trisomy 18, 19 with trisomy 13, 37 with Turner's syndrome and 24 with isolated heart defects. Groups were compared using Student's t-test and confidence intervals for differences between groups were calculated. RESULTS: Otherwise normal fetuses with increased NT showed no difference in any of the cardiac Doppler parameters from normal controls. Mean E/A ratio was slightly but significantly increased in trisomy 21 fetuses compared with normal controls (0.604 vs. 0.578 on the right, P = 0.011; 0.581 vs. 0.542 on the left, P = 0.0001). E/A ratio was not significantly different between any of the other groups and the normals but there was a small increase in absolute E-wave velocity in trisomy 18 fetuses. MPI was significantly decreased in trisomy 21 fetuses, (0.330 vs. 0.378, P = 0.002 on the left) and also in Turner's syndrome fetuses (0.301 vs. 0.352 on the right, P = 0.04; 0.320 vs. 0.378 on the left, P = 0.034) implying better performance, but not in the other groups. CONCLUSIONS: The magnitude and/or direction of the differences shown do not support a major role for cardiac functional abnormality in the development of NT. Important cardiac dysfunction could not be demonstrated in association with increased NT in normal or abnormal fetuses.

Evaluation of three-dimensional ultrasonography and magnetic resonance imaging in assessment of congenital heart anomalies in fetal cardiac specimens.

In this observational study, multiplanar three-dimensional ultrasound images were reconstructed from tomographic views obtained by scanning seven cadavaric fetal hearts with various congenital heart defects. Comparisons were made with multiplanar three-dimensional magnetic resonance imaging (MRI) of the hearts. Good-quality echocardiographic images were obtained in all but one of the fetal hearts. Multiplanar as well as three-dimensional reconstructions were possible and allowed accurate assessment of complex cardiac defects. Overall, the MRI projections had better image quality and revealed more structural details than the sonographic views, although both imaging modes showed the same cardiac anatomical abnormalities. Our initial results demonstrate that simultaneous multiplanar display of cross-sectional echocardiographic views can be performed to provide three-dimensional images of the fetal heart, demonstrating structural cardiac malformation. However, the clinical application of three-dimensional fetal echocardiography is at present limited by the time required for image data acquisition and the need for accurate temporal and positional gating in the living fetus.