Prenatal Echocardiography Research Articles

Utility of modified vascular corrosion casting technique in the diagnosis of fetal ductus arteriosus abnormalities

The anatomy of ductus arteriosus (DA) can be varied in different congenital heart defects (CHDs), and it is difficult to fully discover the DA and other associated cardiac anomalies by prenatal ultrasound. This study was aimed to use the modified vascular corrosion casting technique to prepare fetal cardiovascular casts with DA anomalies, assess the casting effectiveness in evaluating the great vessels of the fetal heart and investigate the utility of cardiovascular casting for the demonstration of fetal DA abnormalities. This retrospective study enrolled fourteen fetuses (23 to 28+2 gestational weeks) with severe CHDs diagnosed by prenatal echocardiography and casting technique from January 2013 to July 2019. The sonographic features of DAs were carefully observed and other associated cardiovascular anomalies were also evaluated during the screening. The architectures of DAs and the whole cardiovascular system were observed and analyzed, and then the cast findings were compared with prenatal ultrasonic results. In fourteen cases, 18 ductal abnormities were indicated by prenatal echocardiography in fourteen cases, while 25 were revealed by casting. Cast findings included 4 cases of ductal stenosis, 1 case of ductal dilation, 6 cases of ductal circuity, 3 cases of right-sided ductus, 5 cases of anomalous ductal connection, 1 case of bilateral ductus and 5 cases of absent ductus. Cast findings consisted with ultrasound in 10 ductal abnormalities, revealed additional 15 ductal abnormalities miss-diagnosed by sonography, and corrected 6 abnormalities misdiagnosed prenatally. Meanwhile, 3 ductal abnormalities (reversed flow) could not be demonstrated by casts but only by ultrasound. Cast models can visually display the anatomical characteristics of ductus arteriosus, and could be successfully used in the demonstration of ductus abnormalities in fetuses with severe CHDs. Comparing with ultrasound, casting technique has its own superiority in exhibiting ductus abnormalities, especially in certain types such as course, origin and absence abnormalities of ductus.

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The back cover image is based on the Original Article Description of misdiagnosis and missed diagnosis of fetal complex heart malformations by prenatal echocardiography combined with postnatal cardiovascular casting by Yu Wang et al., https://doi.org/10.1002/pd.5689.image

Prenatal diagnosis and pregnancy outcomes of 1492 fetuses with congenital heart disease: role of multidisciplinary-joint consultation in prenatal diagnosis

Early diagnosis of congenital heart disease (CHD) can improve the prognosis of neonates with CHD. We retrospectively evaluated the value of prenatal diagnosis of CHD by comparing the pregnancy outcomes. Prenatal diagnosis of CHD was established by echocardiographic evaluation of fetal heart. Amniotic fluid and/or cord blood genetic examination, pathological anatomy, casting specimen, and/or multidisciplinary-joint consultation (MDJC) were performed. A total of 1492 fetuses with CHD were diagnosed by prenatal echocardiography from 67834 pregnant women. There were 445, 236, 583, and 228 cases in groups A (simple CHD), B (simple CHD plus extra-cardiac abnormality), C (complex CHD), and D (complex CHD plus extra-cardiac abnormality), respectively. The pregnancy continuation rate in the four groups was 98.67%, 85.71%, 67.65%, and 36.84%, respectively (P < 0.001). The pregnancy termination rate for fetal CHD with extra-cardiac abnormalities was significantly higher than that for fetuses with only CHD (81.24% vs. 53.6%, P < 0.05). Prenatal genetic test revealed chromosomal abnormalities in 20.43% of fetuses with CHD. MDJC significantly decreased the pregnancy termination rate. In 88 cases, the original decision to terminate the pregnancy was changed after consultation and the pregnancy was continued. Of these, 87 cases culminated in live births; 65 of these children had better prognosis. Nine-segment sequential segment analysis method for prenatal fetal echocardiography was compared with the results of pathological anatomy, cast specimen, postoperative diagnosis, and postnatal ultrasound. The accuracy of prenatal ultrasound for diagnosis of fetal complex CHD and fetal simple CHD was 90.5–91.66% and 98.6%, respectively. Prenatal ultrasound is still the most effective method for fetal CHD diagnosis.

Description of misdiagnosis and missed diagnosis of fetal complex heart malformations by prenatal echocardiography combined with postnatal cardiovascular casting.

To compare prenatal echocardiography with postnatal cardiovascular casting for detection of fetal cardiovascular malformations, and to discuss the causes of prenatal misdiagnosis and missed diagnosis. We retrospectively identified patients from 2013 to 2018 at our Maternal-Fetal Medicine Center who were reported to have a fetal diagnosis of severe congenital heart malformations (CHMs). Subjects had postnatal confirmation of CHMs. Prenatal and postnatal medical records, including ultrasound results and casting findings, were reviewed and analyzed. Postnatal casting showed that all 35 fetuses had complex CHMs. In these 35 cases, 90 cardiovascular malformations were found by postnatal casting, and 69 were detected by prenatal echocardiography. Among the other 21 cardiovascular malformations, 7 were misdiagnosed and 14 diagnoses were missed by prenatal ultrasound. Prenatal echocardiography may lead to misdiagnosis and missed diagnoses, especially in cases with great arterial branching anomalies. Postnatal casting can demonstrate the configuration of the great vessels and smaller branches directly. Thus, understanding of such malformations via postnatal casting may help to improve prenatal diagnostic accuracy.

The Features of Pregnancy, Early Neonatal Period and Tactics of Surgical Treatment in Newborn with Hypoplastic Aortic Arch (First-Hand Experience)

Aortic pathology occurs in 10% of all newborn with congenital heart diseases (CHD). According to the data of various authors, in 50–80% of cases coarctation of aorta is accompanied by hypoplastic aortic arch. The newborn with such diagnosis represent a unique cohort of children who remain in severe condition and require immediate surgical intervention. Despite the significant development of diagnostic opportunities of radiographic methods, aortic arch patho­ logy remains one of the most difficult diagnoses in prenatal diagnostics.&#x0D; The objective of the study is to provide rationale for perinatal prognosis based on the analysis of pregnancy course, condition of the fetus and newborn in order to provide timely diagnosis and perform cardiosurgical interventions in patients with aortic arch pathology.&#x0D; Materials and methods. In the period from 2011 to 2019 at the State Institution “Institute of Pediatrics, Obstetrics and Gynecology of NAMS of Ukraine” and State Institution “National Amosov Institute of Cardiovascular Surgery of the NAMS of Ukraine” 121 pregnant women with fetal aortic arch hypoplasia were observed, followed and gave birth according to the algorithm developed by our team. The most optimal terms for fetus examination were weeks 20–22 and 30–32 of pregnancy. Patients with hypoplastic aortic arch as part of hypoplastic left heart syndrome were excluded from the analysis of tactics and results of surgical treatment since this category of patients requires separated study. Among 53 patients with hypoplastic aortic arch (36 patients with isolated hypoplastic aortic arch, and 17 patients with that combined with other CHD), 43 patients required surgical treatment after additional in-patient examination.&#x0D; Results and discussion. Analysis of the pregnancy course in women with fetal aortic arch hypoplasia showed that the number of multifetal pregnancies (including those having occurred after the use of extracorporeal technologies) was higher in pregnant women of the main group. Also, the percentage of threat of termination of pregnancy in the early term was high threatened miscarriage in the early stages of pregnancy was higher, and, vice versa, the threat of premature birth was lower. It is worth noting that 7 (5.7%) children had the appearance of “completely healthy child” in the first day of life, which confirms the importance of prenatal echocardiography in the timely diagnosis of critical CHD. To analyze the effectiveness of prenatal diagnosis and timely referral of patients to a specialized cardiac surgery center, it was found that the number of complications at the preoperative stage was statistically significantly higher in the group of patients without prenatal diagnosis.&#x0D; Conclusion. In case of diagnosed or suspected fetal aortic hypoplasia (isolated or combined with other abnormalities) a multidisciplinary case management team should be involved to determine further perinatal tactics and timing of cardiac surgery which will significantly reduce pre- and postoperative complications.

Congenital Heart Diseases Detected by Prenatal Fetal Echocardiography and Associated Extracardiac Anomalies

Congenital Heart Diseases Detected by Prenatal Fetal Echocardiography and Associated Extracardiac Anomalies

EP10.16: Comparative study between cardiovascular cast and prenatal echocardiography in the demonstration of fetal congenital cardiovascular disease

EP10.16: Comparative study between cardiovascular cast and prenatal echocardiography in the demonstration of fetal congenital cardiovascular disease

OP15.07: Prenatal echocardiography characteristic in transposition of the great arteries with intact ventricular septum

OP15.07: Prenatal echocardiography characteristic in transposition of the great arteries with intact ventricular septum

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

BackgroundAdvances in fetal echocardiography training among pediatric cardiologists have led to substantial improvements in prenatal detection of congenital heart diseases (CHDs). Nevertheless, diagnostic accuracy varies among centers. Moreover, this subspecialty continues to evolve in developing countries, with limited studies assessing fetal echocardiography sensitivity, specificity, and accuracy in developing countries such as Egypt. Subject and methodsHigh-risk pregnancies referred for fetal echocardiography from January 2011 to January 2019 were analyzed retrospectively. All of the cases included had one of the high-risk indications for fetal echocardiography. Maternal age and gestational age at the prenatal diagnosis were determined, and detailed fetal and neonatal echocardiograms were documented. The results of fetal and postnatal echocardiography were compared to assess the sensitivity, specificity, and accuracy of fetal echocardiography. A minor lesion was defined when no postnatal intervention was needed and a major anomaly when postnatal cardiac therapy, surgery, or intervention was required. ResultsOut of 615 pregnant patients referred, comparisons between fetal and neonatal echocardiography were possible in 458 fetuses, with 157 patients excluded from the study. The mean maternal age in the study was 26.97±5.871 years and the mean gestational age at referral was 27.24±5.407 weeks. The most common indication for prenatal echocardiography in this cohort was a family history of CHD (142; 31%) followed by nonimmune hydrops (97; 21.18%) and abnormal obstetrical ultrasound screening (64; 13.97%). We had three false-positive minor diagnoses and four false-negative cases with only one requiring intervention. Prenatal diagnosis in this study was accurate in 98.47% of cases. The sensitivity, specificity, and accuracy of fetal echocardiography in the current work were 97.03%, 99.07%, and 98.47, respectively. ConclusionFetal echocardiography is considered a highly sensitive specific tool for prenatal detection of congenital heart diseases in high-risk pregnancies even in developing countries. However, minor fetal cardiac disorders are challenging to diagnose and family counseling should emphasize the difficulty of excluding or confirming such lesions.

Echocardiographic and pathomorphological features in fetuses with ductal-dependent congenital heart diseases.

To individually analyze echocardiographic features in fetuses with ductal-dependent congenital heart diseases (DDCHD) and to verify the anatomical characteristics corresponding to the echocardiogram scan views. Ductal-dependent congenital heart diseases depends on the ductus arteriosus (DA) remaining open to maintain suitable pulmonary or systemic circulation after birth. An accurate diagnosis using prenatal echocardiography has important clinical significance in evaluating disease prognosis and ensuring timely treatment. Fetuses were followed in the prenatal and postpartum periods via echocardiography. The results of postpartum echocardiography or autopsy specimens were compared with the prenatal echocardiography findings. One hundred and eight fetuses displayed various types of DDCHD including 66 fetuses with ductal-dependent pulmonary circulation, and 42 fetuses with ductal-dependent systemic circulation. Prenatal echocardiography revealed the typical characteristics of no forward flow signal from right ventricular outflow tract to the pulmonary trunk proximally and a reverse flow in the DA in most fetuses for ductal-dependent pulmonary circulation, a reverse flow in the transverse aortic arch for aorta atresia, and a loss of continuity between aortic arch and descending aorta for interruption of the aortic arch (IAA). All 108 fetuses displayed various types of complex CHD, including right ventricular dysplasia with pulmonary atresia (PA), severe Ebstein anomaly, double outlet right ventricle with PA, tetralogy of fallot with PA, single ventricle with PA or aorta atresia, hypoplastic left heart syndrome, and IAA. The identification of reverse flow in the aortic arch or DA aids in the subsequent accurate diagnosis of DDCHD associated with complex malformation of the heart.

Comparison between Fetal Echocardiography and Neonatal Echocardiography in Diagnosing Congenital Heart Diseases

Backgound: Congenital heart defects (CHD) are the most common congenital malformations. It is six times more common than chromosomal abnormalities and four times more common than neural tube defects. Congenital heart disease accounts for approximately 40% of perinatal deaths due to congenital anomalies and more than 20% of deaths in the first month. Objective: This study aimed to compare the accuracy between fetal and neonatal echocardiography in diagnosing congenital heart disease. Patient and methods: This is a retrograde comparative study that included neonates who underwent echocardiography examination and the results were compared with fetal echocardiographic results available in historical records from prenatal care. 60 pregnant women were referred for fetal echocardiography. The included fetuses in the study were 60 fetuses. It was conducted at the Neonatal Echocardiography Unit, Pediatric Department at Zagazig University Hospitals, from July 2016 to March 2018. Results: Our study showed that out of the 60 cases, fetal echocardiography detected 8 cases out of 24 cases diagnosed with CHD (33.3%), while Neonatal echocardiography detected 24 cases out of 24 cases diagnosed with CHD (100%). Conclusion: The present study demonstrated that fetal cardiovascular diseases, either functional or structural, can be accurately identified by prenatal echocardiography.

Prenatal echocardiography in the diagnosis of fetal double aortic arch

Objective To explore the way of prenatal echocardiography in the diagnosis of fetal double aortic arch. Methods The data of fetuses diagnosed as double aortic arch in 6 prenatal centers in Hunan in echocardiograms performed at 20-36 weeks of gestation from 2013 to 2018 were reviewed. The characteristics of echocardiographic with double aortic arch, and the associated malformations were observed, the clinical outcome were analyzed. Results The main echocardiographic features of the double aortic arch were three-vessel-tracheal views, which showed a bifurcation of the ascending aorta and a ring consisted of aortic right and left arch. From this retrospective analysis, 29 double aortic arches were identified, which 8 cases (28%) combined with cardiac defect and extracardiac abnormalities, 1 case with 22q11 deletion. Among them, 5 cases were confirmed by autopsy, 24 cases were diagnosed by computed tomography angiography(8 cases were confirmed by operation). Conclusions Systematic prenatal echocardiography in the diagnosis of fetal double aortic arch has significant clinical value in the cliagnose of double aortic arch, whether it is associated with other malformations and is important for assessing fetal prognosis. Key words: Ultrasonography, prenatal; Fetal; Double aortic arch

Accuracy of Micro-Computed Tomography in Post-mortem Evaluation of Fetal Congenital Heart Disease. Comparison Between Post-mortem Micro-CT and Conventional Autopsy.

Aims: Early prenatal diagnosis of congenital heart disease is feasible. Conventional autopsy is the current gold standard method for post-mortem confirmation. Radiologic techniques alternative to conventional autopsy, such as post-mortem micro-computed tomography, have been proposed in case of limited diagnostic accuracy (i.e., early termination of pregnancy, samples of small dimension or of low weight). The aim of the present study was to define accuracy of micro-computed tomography for post-mortem diagnosis of congenital heart disease in gross anatomy samples.Methods and Results: Fetal heart underwent in-utero prenatal echocardiography and ex-vivo post-mortem evaluation by 9 μm resolution micro-computed tomography and conventional autopsy. For each case, 25 indices of cardiac anatomy were studied by post-mortem micro-computed tomography and conventional autopsy; these were used to compare the two post mortem techniques. Ten samples were examined (gestational age between 12 + 4 and 21 + 6 weeks of gestation). Considering comparable indices, agreement between post-mortem micro-computed tomography and conventional autopsy was of 100% and sensitivity and specificity were of 100%. In “challenging specimens,” post-mortem micro-computed tomography diagnoses more indices as compared to conventional autopsy and 84% of “not-diagnostic” indices at conventional autopsy would be diagnostic at post-mortem micro-computed tomography.Conclusion: Micro-computed tomography can be a valid diagnostic alternative to conventional autopsy for post-mortem evaluation of human fetal heart. In addition, it may prove superior to conventional autopsy particularly in cases coming from early termination of pregnancy or in samples of small dimension or of low weight.

Congenital unilateral pulmonary hypoplasia presenting as cardiac dextroposition on prenatal ultrasonography

Objective: To report a case of congenital right pulmonary hypoplasia presenting as cardiac dextroposition on prenatal ultrasonography. Case Report: A 29-year-old woman with fetal dextroposition visited this institution at 24 weeks of gestation. Prenatal fetal echocardiography and detailed ultrasonography could not detect fetal anomaly except for fetal dextroposition. However, congenital pulmonary hypoplasia was diagnosed postnatally. Conclusion: Primary unilateral pulmonary hypoplasia should be suspected in cases with abnormal heart position of an unknown origin and fetal magnetic resonance imaging (MRI) could be an additional option for prenatal diagnosis of primary pulmonary hypoplasia.

Echocardiographic features and outcome of restrictive foramen ovale in fetuses without cardiac malformations

Objective To investigate the clinical significance of restrictive foramen ovale (RFO) monitored by fetal echocardiography during the middle to late stage of pregnancy. Methods The detection rate, echocardiographic features and outcome in fetuses with RFO without cardiac malformations from 7 319 pregnant women received prenatal echocardiography were retrospectively reviewed and analyzed. Results RFO was found in 40 of 7 319 (0.55%) fetuses. The inclusion criteria including a narrow right to left shunt of less than 2.5 mm in diameter across atrial septum, enlarged right atrium, increased right-to-left ventricular size ratio, and increased size ratio of main pulmonary artery to aorta were present in 40 fetuses. The direct ultrasound characters of RFO included limited opening of oval valve (70%) and foramen ovale diameter less than 2.5 mm (30%). And atrial septal aneurysm (62.5%), redundant primum atrial septum (57.5%), abnormal ductus arteriosus (57.5%) might also be present commonly in RFO. As the gestational weeks increased, the size ratio of right-to-left atrium, right-to-left ventricle and the main pulmonary artery to aorta also increased significantly(P=0.004, P<0.001, P<0.001). Among the 40 fetuses with RFO, 21 cases (52.5%) gave birth in full term, 8 cases (20%) which were detected severe tricuspid regurgitation gave birth in early cesarean section, 5 cases (12.5%) had induced labor and 6 cases (15%) were lost in the follow-up. Of the 29 newborns, only 1 case died of heart failure, and the other 28 subjects recovered both from heart structure or cardiac function within four months. Conclusions RFO without cardiac malformations presents echocardiographic features characterized by a narrow right to left shunt of less than 2.5 mm in diameter across atrial septum. Fetal echocardiography can monitor the dynamic change of fetal heart structure and function based on the increase of right heart load and decrease of left heart volume, which has important clinical significance for assessing fetal intrauterine condition and prognosis. Key words: Echocardiography; Restrictive foramen ovale; Fetus; Prognosis

Cardiac Findings in Fetal and Pediatric Autopsies: A 15-Year Retrospective Review

Introduction: Congenital heart defects (CHDs) carry significant morbidity and mortality in pediatric patients. This study determined the spectrum of CHDs based on fetal and pediatric autopsies. Methods: Autopsy reports over a 15-year period were reviewed. Postmortem findings were correlated with echocardiography records. Results: From 608 autopsies, 119 cases with CHDs were identified (11% of fetal, 53% of neonatal, 18% of infant, and 4.5% of childhood autopsies). Persistent left superior vena cava was the most common individual defect. 41% of cases had extracardiac malformations. 18.5% of cases had chromosomal abnormalities. Prenatal echocardiography was available in 52 cases, showing 85% correlation with autopsy findings. Defects missed by echocardiography were generally of mild severity. Conclusion: Postmortem examination is important to delineate the anatomy of CHDs, and recognize extracardiac malformations for identification of possible genetic syndromes. This information can be used for parental counseling and for assessment of accuracy of pre-mortem imaging studies.

Prenatal and postnatal echocardiography in NT fetuses with normal karyotype.

Introduction:Targeted fetus echocardiography at midpregnancy can detect major defects in major cardiovascular organs. The present study aimed to evaluate prenatal and postnatal echocardiography in fetuses with increased nuchal translucency (NT) with normal karyotype.Methods:In this retrospective study, data on the screening of fetuses in pregnant women between 2014 and 2015 were evaluated. The fetuses at the gestational age were 14–11 weeks, and NT ≥ 95 percentile (or 3 mm). For all fetuses with increased NT, follow-up anomaly scan was performed at 18–22 weeks of pregnancy, while fetal echocardiography was performed at weeks 16–19 of pregnancy. The results were analyzed by Statistical Package for the Social Sciences (version 22) and the level of significance was less than 0.05.Results:A total of 26.27% of the fetuses were diagnosed with prenatal heart defects and confirmed after birth. The strongest relationship was observed between increased NT and the diagnosis of prenatal heart defects at 2.5–5.3 mm. The increased NT was higher in younger mothers. Moreover, increased NT was higher in mothers with less body mass index.Conclusion:By measuring NT in the 11–13 weeks of pregnancy and considering the risk factors, it is possible to evaluate the probability of cardiac abnormalities in the fetus and perform the necessary diagnostic evaluations for high-risk cases.

Prenatal ultrasound diagnosis of unroofed coronary sinus and review of the literature

Objective To summarize the prenatal ultrasonographic characteristics of unroofed coronary sinus(URCS) for improving the prenatal echocardiography diagnostic accuracy of URCS. Methods The retrospective review for prenatal ultrasonogram of 7 fetuses was applied, which were diagnosed as URCS. The prenatal ultrasonographic characteristics of 7 fetuses with URCS were reviewed and comparatively analyzed with postpartum autopsy findings or postnatal echocardiography. The relevant literatures referring to the prenatal diagnosis of URCS were reviewed. The experience of prenatal diagnosis of URCS were summarized. Results In 7 cases with URCS, 5 cases of completely URCS were associated with right atrial isomerism syndrome and confirmed by postpartum autopsy, and 2 cases of partially URCS were only with persistent left superior vena cava and confirmed by postnatal echocardiography. The karyotype analysis of 2 cases of partially URCS on amniotic fluid was normal. Conclusions There are some characteristic signs in ultrasonic features of URCS. URCS can be diagnosed by prenatally ultrasonography. A long axial section of the coronary sinus is the most important view for prenatal ultrasonic diagnosis of URCS. Key words: Ultrasonography, prenatal; Fetus; Unroofed coronary sinus

Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome.

Background:Congenital heart disease (CHD) is one of the most common birth defects; however, the mechanisms underlying its development are poorly understood. Recently, heritable genetic factors, including copy number variations (CNVs) and single nucleotide polymorphisms (SNPs), have been implicated in its etiology. The aim of this study was to investigate the utility of a SNP array for the prenatal diagnosis of CHD and the improvement of prenatal genetic counseling and to compare this approach to traditional chromosome analysis.Methods:One hundred and fortysix cases of CHD detected by prenatal echocardiography were analyzed. Of these, 110 were isolated CHD and 36 were of CHD with extracardiac defects. SNP analysis was performed using the Affymetrix CytoScan HD platform, which was followed by karyotype analysis. All annotated CNVs were validated by fluorescence in situ hybridization.Results:Karyotype analysis identified chromosomal abnormalities in 19 of 146 cases. In addition to the 15 chromosomal abnormalities that were consistent with the results of karyotype analysis, the SNP array identified abnormal CNVs in an additional 15.2% (22/145) cases; of these, 15 were pathogenic CNVs, three were variations of uncertain clinical significance, and four were benign CNVs. The rates at which the SNP array detected pathogenic CNVs differed significantly between cases of isolated CHD and CHD with extracardiac defects (13.6% vs. 72.2%, P = .001). The results of the SNP array also affected the rate of pregnancy termination.Conclusion:Combining SNP array with cytogenetic analyses is particularly effective for identifying chromosomal abnormalities in CNVs in fetuses with CHD, which also affects obstetrical outcomes.

Prenatal Diagnosis of Aortopulmonary Window by 2-Dimensional Echocardiography: Summary of 8 Cases.

Aortopulmonary window (APW) is a rare congenital heart anomaly. A total of 8 cases with APW confirmed by echocardiography and surgery were retrospectively reviewed and the echocardiographic features analyzed. Among the 8 APW cases, 5 were type II and 3 were type III, the latter of which includes 2 cases complicated with Berry syndrome. Prenatal echocardiography can provide accurate information for the diagnosis of fetal APW. The prognosis depends on the timing of surgery and the nature of the associated cardiac anomalies.