Improved Multi-Head Self-Attention Classification Network for Multi-View Fetal Echocardiography Recognition.

The accurate acquisition of multiview fetal cardiac ultrasound images is very important for the diagnosis of fetal congenital heart disease (FCHD). However, these manual clinical procedures have drawbacks, e.g., varying technical capabilities and inefficiency. Therefore, exploring automatic recognition method for multiview images of fetal heart ultrasound scans is highly desirable to improve prenatal diagnosis efficiency and accuracy. In this work, we propose an improved multi-head self-attention mechanism called IMSA combined with residual networks to stably solve the problem of multiview identification and anatomical structure localization. In details, IMSA can capture short- and long-range dependencies from different subspaces and merge them to extract more precise features, thus making use of the correlation between fetal heart structures to make view recognition more focused on anatomical structures rather than disturbing regions, such as artifacts and speckle noises. We validate our proposed method on fetal cardiac ultrasound imaging datasets from a single center and 38 multicenter studies and the results outperform other state-of-the-art networks by 3%-15% of F1 scores in fetal heart six standard view recognition.Clinical Relevance- This technology has great potential in assisting cardiologists to complete the automatic acquisition of multi-section fetal echocardiography images.

Evaluation fetal heart in the first and second trimester: Results and limitations.

Background: Cardiac heart defects affect nearly 6-12 per 1000 live births in the general population and are more frequent than common trisomies. Aim: To assess the efficacy and technical limitations of first-trimester fetal heart evaluation in the 11-14th-weeks' scan and comparison with the second-trimester anatomical exam by ultrasound. Material and Method: Between April 2015 and July 2020, medical records and ultrasound data of 3295 pregnancies who underwent first-trimester fetal anatomy exams by ultrasound were reviewed retrospectively. All ultrasound exams were performed by the same two operators (TUKD, OP) with transabdominal transducers. Fetal situs, four-chamber view, outflow tracts, and three-vessel trachea view are the cornerstones of first-trimester fetal heart examination. Conventional grayscale mode and high-definition power Doppler mode were utilized. The same operators re-examined all cases between the 18 and 23 weeks of gestation by ISUOG guidelines. Results: We performed a combined transvaginal and transabdominal approach for only 101 cases (3.06%). The mean maternal age was 31.28 ± 4.43, the median gestational age at the first-trimester ultrasound exam was 12.4 weeks, and the median CRL was 61.87 mm (range was 45.1-84 mm). Even combined approach situs, cardiac axis, and four-chamber view could not be visualized optimally in 28 cases (0.7%). Outflow tracts were visualized separately in 80% (2636 in 3295) cases. Three vessel-trachea views were obtained in 85.4% (2814 in 3295) cases by high-definition Doppler mode. There were 47 fetuses with cardiac defects in 3295 pregnancies with the known pregnancy outcome. Ten cases had abnormal karyotype results. Thirty-two fetuses with cardiac anomalies (9.7 in 1000 pregnancies) were detected in the first-trimester examination, and the remaining 15 (4.55 in 1000 pregnancies) cases were diagnosed in the second-trimester examination. The prevalence of congenital cardiac anomalies was 14.25 in 1000 pregnancies. Fifteen cases were missed in the first-trimester exam. Also, ten fetuses which had abnormal cardiac findings in the first-trimester exam were not confirmed in the second-trimester exam. Sensitivity, specificity, positive, and negative predictive values were calculated as 65.3%, 99.7%, 66.8%, and 99.67%, respectively. Conclusion: Late first-trimester examination of the fetus is feasible and allows earlier detection of many structural abnormalities of the fetus, including congenital heart defects. Suspicious and isolated cardiac abnormal findings should be re-examined and confirmed in the second-trimester exam. Previous abdominal surgery, high BMI, and subtle cardiac defects can cause missed cardiac abnormalities.

Study on the value of the prenatal-postnatal integrated management model in the screening, diagnosis, and treatment of fetal heart malformations.

OBJECTIVE: With the development and widespread use of fetal ultrasound and magnetic resonance technology in recent years, approximately 75% of fetuses are diagnosed prenatally with congenital structural malformations, a serious birth defect that endangers the life and health of the newborn. In this study, we aimed to study and analyze the value of the prenatal-postnatal integrated management model in the screening, diagnosis and treatment of fetal heart malformations. PATIENTS AND METHODS: All pregnant women who were to undergo delivery in our hospital between January 2018 and December 2021 were recruited as the first subjects in this study, and after excluding those who refused to participate in the study, a total of 3,238 cases were finally included as subjects of this study. All pregnant women were screened for fetal heart malformations using the prenatal-postnatal integrated management model. Maternal files were established for all cases of heart malformations, grading the fetuses according to their heart disease grade, observing and recording their deliveries, treatment results and follow-ups. RESULTS: After screening for heart malformations using the prenatal-postnatal integrated management model, 33 cases of heart malformations were identified, including 5 cases of Grade I (all delivered), 6 cases of Grade II (all delivered), 10 cases of Grade III (1 induced), and 12 cases of Grade IV (1 induced); 2 cases of ventricular septal defect healed spontaneously after delivery, and 18 infants were treated accordingly. The results of the later follow-up showed that 10 children had normalized their heart structure, 7 cases had slight alterations in the heart valves, and 1 case died. CONCLUSIONS: The prenatal-postnatal integrated management model is a multidisciplinary cooperation model with certain clinical value in the screening, diagnosis and treatment of fetal heart malformations, which is beneficial to comprehensively improve the ability of hospital physicians in the grading management of heart malformations, detecting fetal heart malformations early and predicting fetal changes after birth. It further reduces the incidence of serious birth defects, conforms to the development trend of the diagnosis and treatment of congenital heart diseases, enables to reduce child mortality with timely treatment, effectively improves the surgical prognosis of critical and complex congenital heart diseases, with a promising application prospect.

Quantitative measurements and morphological evaluation of fetal cardiovascular structures with fetal cardiac MRI.

PURPOSE: Fetal cardiac magnetic resonance imaging (FCMR) can be used as an imaging modality in fetal cardiovascular evaluation as studied in recent years. We aimed to evaluate cardiovascular morphology using FCMR and to observe the development of cardiovascular structures according to gestational age (GA) in pregnant women. METHOD: In our prospective study, 120 pregnant women between 19 and 37 weeks of gestation in whom absence of cardiac anomaly could not be excluded by ultrasonography (US) or, who were referred to us for magnetic resonance imaging (MRI) for suspected non-cardiovascular system pathology, were included. According to the axis of the fetal heart, axial, coronal, and sagittal multiplanar steady-state free precession (SSFP) and 'real time' untriggered SSFP sequence, respectively, were obtained. The morphology of the cardiovascular structures and their relationships with each other were evaluated, and their sizes were measured. RESULTS: Seven cases (6.3%) contained motion artefacts that did not allow the assessment and measurement of cardiovascular morphology, and three (2.9%) cases with cardiac pathology in the analysed images were excluded from the study. The study included a total of 100 cases. Cardiac chamber diameter, heart diameter, heart length, heart area, thoracic diameter, and thoracic area were measured in all fetuses. The diameters of the aorta ascendens (Aa), aortic isthmus (Ai), aorta descendens (Ad), main pulmonary artery (MPA), ductus arteriosus (DA, superior vena cava (SVC), and inferior vena cava (IVC) were measured in all fetuses. The left pulmonary artery (LPA) was visualised in 89 patients (89%). The right PA (RPA) was visualised in 99 (99%) cases. Four pulmonary veins (PVs) were seen in 49 (49%) cases, three in 33 (33%), and two in 18 (18%). High correlation values were found for all diameter measurements performed with GW. CONCLUSION: In cases where US cannot achieve adequate image quality, FCMR can contribute to diagnosis. The very short acquisition time and parallel imaging technique with the SSFP sequence allow for adequate image quality without maternal or fetal sedation.

Application of Artificial Intelligence in Anatomical Structure Recognition of Standard Section of Fetal Heart.

Congenital heart defect (CHD) refers to the overall structural abnormality of the heart or large blood vessels in the chest cavity. It is the most common type of fetal congenital defects. Prenatal diagnosis of congenital heart disease can improve the prognosis of the fetus to a certain extent. At present, prenatal diagnosis of CHD mainly uses 2D ultrasound to directly evaluate the development and function of fetal heart and main structures in the second trimester of pregnancy. Artificial recognition of fetal heart 2D ultrasound is a highly complex and tedious task, which requires a long period of prenatal training and practical experience. Compared with manual scanning, computer automatic identification and classification can significantly save time, ensure efficiency, and improve the accuracy of diagnosis. In this paper, an effective artificial intelligence recognition model is established by combining ultrasound images with artificial intelligence technology to assist ultrasound doctors in prenatal ultrasound fetal heart standard section recognition. The method data in this paper were obtained from the Second Affiliated Hospital of Fujian Medical University. The fetal apical four-chamber heart section, three vessel catheter section, three vessel trachea section, right ventricular outflow tract section, and left ventricular outflow tract section were collected at 20-24 weeks of gestation. 2687 image data were used for model establishment, and 673 image data were used for model validation. The experiment shows that the map value of this method in identifying different anatomical structures reaches 94.30%, the average accuracy rate reaches 94.60%, the average recall rate reaches 91.0%, and the average F1 coefficient reaches 93.40%. The experimental results show that this method can effectively identify the anatomical structures of different fetal heart sections and judge the standard sections according to these anatomical structures, which can provide an auxiliary diagnostic basis for ultrasound doctors to scan and lay a solid foundation for the diagnosis of congenital heart disease.

Prenatal detection of congenital heart disease at 12-13 gestational weeks: detailed analysis of false-negative cases.

OBJECTIVES: To report on the early detection of congenital heart disease (CHD) in low- and high-risk populations managed at our hospital; and perform a detailed analysis of false-negative diagnoses, in order to derive possible recommendations on how to reduce their incidence. METHODS: This was a retrospective observational study analyzing cases which underwent an ultrasound examination at the end of the first trimester at the Fetal Medicine and Surgery Unit of Gaslini Children's Hospital, Genoa, Italy, in the period January 2015 to December 2021. The study population included both low-risk pregnancies that underwent standard first-trimester combined screening and high-risk ones referred to our unit because of a positive combined test or suspicion of fetal anomalies raised in a regional community hospital. For each case, the following variables were retrieved and analyzed: number of fetuses, maternal body mass index, gestational age at first-trimester screening, whether the pregnancy was low or high risk, nuchal translucency thickness (normal or > 99th  centile), type of CHD, associated extracardiac anomalies, karyotype and pregnancy outcome. For low-risk pregnancies, suspicion of CHD was also recorded. In low-risk cases, sonographic cardiac screening comprised evaluation of the four-chamber view (grayscale and color/power Doppler) and three-vessel-and-trachea view (color/power Doppler). High-risk cases underwent early fetal echocardiography. False-negative cases were categorized according to likely cause of the missed diagnosis, as follows: human factor; technical factor; acoustic-window factor. RESULTS: Gestational age at ultrasound ranged from 12 + 0 to 13 + 6 weeks (crown-rump length (CRL), 50.1-84.0 mm) in the low-risk group and from 11 + 5 to 13 + 6 weeks (CRL, 45.1-84.0 mm) in the high-risk group. Over the 7-year study period, 7080 pregnancies were evaluated in the first trimester. Of these, 6879 (7167 fetuses) were low-risk and 201 were high-risk cases. In the low-risk group, there were 30 fetuses with CHD (including 15 major and 15 minor CHD), yielding a prevalence of 4.2/1000 (2.1/1000 for major CHD). Nine of the 30 CHD cases were suspected at screening ultrasound (7/15 major CHD). Excluding cases in which the CHD would not be expected to be associated with a modification of the screening views and would therefore not be detectable on screening ultrasound, 7/12 cases of major CHD were detected, corresponding to a sensitivity of 58.3%. Among the 201 high-risk cases, there were 46 fetuses with CHD (including 44 major and two minor CHD), of which 43 were detected, corresponding to a sensitivity for early fetal echocardiography of 93.5%, or 97.7% if the two cases that were unlikely to be detectable on first-trimester screening were excluded. Analysis of the 11 (of 24) false-negative cases that would be expected to be picked up on screening views revealed that human error (image interpretation and/or scanning approach) was involved in all 11 cases and technical factors (excessive color priority (color-balance function) and/or incorrect plane alignment) were present in two. There was impairment of the acoustic window (associated with maternal obesity and/or twin gestation) as a cofactor in five of the 11 cases. CONCLUSIONS: The sensitivity for detection of major CHD of early cardiac screening in low-risk pregnancy is under 60%, partly due to the natural history of CHD and, it seems, partly relating to human error and technical issues with image quality. Factors associated with false-negative diagnoses may be categorized into three types: human error, technical factors and acoustic-window impairment. We recommend: appropriate assessment with fetal posterior spine; that sufficient time is spent on assessment of the fetal situs; and that color/power Doppler settings are adapted to the individual case. A lower threshold for referring doubtful cases for early fetal echocardiography should be adopted in cases of maternal obesity and in twin gestation. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Accuracy of fetal echocardiography diagnosis and anticipated perinatal and early postnatal care in congenital heart disease in mid-gestation.

INTRODUCTION: The aim of this study was to determine discrepancies in fetal congenital heart disease (CHD) diagnoses and anticipated early postnatal care and outcomes. MATERIAL AND METHODS: A retrospective review of 462 randomly selected cases (23% of all cases) referred to a fetal cardiac assessment during the second trimester (mean 26 weeks) at the Children's Hospital in Helsinki between October 2010 and December 2020. Discrepancy between prenatal and postnatal CHD case evaluations was assessed with independently provided cardiac severity and surgical complexity scores. RESULTS: In all, 250 cases, 181 CHD and 69 normal, with complete prenatal and postnatal live birth data as well as seven fetal autopsy reports available were included in the analysis. There were 12 false normal and seven false abnormal prenatal assessments. The prenatally anticipated level of early neonatal care was actualized in 62% and prostaglandin infusion in 95%. In total, 32.7% (84/257) cardiac severity scores were discrepant and in 12,4% (32/257) cases the discrepancies were considered significant (≥ +/- 2 scores). Among significant discrepancies, CHD severity score was overestimated in 13 and underestimated in 19 in fetal assessment. Progression of CHD severity after mid-gestation and during early neonatal phase explained eight of 19 underestimated fetal assessments. The most common discrepant diagnostic categories included ventricular septal defects (n = 7), borderline ventricles (n = 7; 5 left heart, 1 right heart and 1 double outlet right ventricle/transposition of the great arteries), arch anomalies including coarctations (n = 5) and tricuspid valve dysplasias (n = 4) with a significant change in postnatal diagnoses and treatment. CONCLUSIONS: Although fetal CHD diagnosis and counseling is accurate and reliable in general, the study elaborates specific areas of uncertainty in clinical fetal cardiology practice that may be important to consider in fetal CHD evaluation and counseling provided in mid-gestation.

Trends in the Prenatal Detection of Major Congenital Heart Disease in Alberta From 2008-2018.

OBJECTIVE: The effect of expanded obstetrical ultrasound cardiac views on the diagnosis of fetal congenital heart disease (CHD) has not been fully examined at a population level. We hypothesized there has been a significant increase in the prenatal detection of CHD in Alberta, particularly for CHD associated with cardiac outflow tract and 3-vessel view abnormalities. METHODS: Using provincial databases, we retrospectively identified all fetuses and infants diagnosed between 2008 and 2018 in Alberta with major CHD requiring surgical intervention within the first postnatal year. We evaluated individual lesions and categorized CHDs into the following groups based on the obstetrical ultrasound cardiac views required for detection: (1) 4-chamber view (e.g., hypoplastic left heart syndrome, Ebstein's anomaly, single ventricle); (2) outflow tract view (e.g., tetralogy of Fallot, d-transposition, truncus arteriosus); (3) 3-vessel or other non-standard cardiac views (e.g., coarctation, anomalous pulmonary veins); and (4) isolated ventricular septal defects using any view. RESULTS: Of 1405 cases of major CHD, 814 (58%) were prenatally diagnosed. Over the study period, prenatal detection increased in all groups, with the greatest increase observed for groups 1 and 2 (75%-88%; P = 0.008 and 56%-79%; P = 0.0002, respectively). Although rates of prenatal detection also increased for groups 3 and 4 (27%-43%; P = 0.007 and 13%-30%; P = 0.04, respectively), fewer than half of the cases in each group were detected prenatally, even in more recent years. CONCLUSIONS: While rates of prenatal detection of CHD have significantly improved during the past decade, many defects with abnormal 3-vessel and non-standard views, as well as isolated ventricular septal defects, still go undetected.

Incremental Detection of Severe Congenital Heart Disease by Fetal Echocardiography Following a Normal Second Trimester Ultrasound Scan in Québec, Canada.

BACKGROUND: The benefit of fetal echocardiograms (FE) to detect severe congenital heart diseases (SCHD) in the setting of a normal second-trimester ultrasound is unclear. We aimed to assess whether the increase in SCHD detection rates when FE are performed for risk factors in the setting of a normal ultrasound was clinically significant to justify the resources needed. METHODS: This is a multicenter, population-based, retrospective cohort study, including all singleton pregnancies and offspring in Quebec (Canada) between 2007 and 2015. Administrative health care data were linked with FE clinical data to gather information on prenatal diagnosis of CHD, indications for FE, outcomes of pregnancy and offspring, postnatal diagnosis of CHD, cardiac interventions, and causes of death. The difference between the sensitivity to detect SCHD with and without FE for risk factors was calculated using generalized estimating equations with a noninferiority margin of 5 percentage points. RESULTS: A total of 688 247 singleton pregnancies were included, of which 30 263 had at least one FE. There were 1564 SCHD, including 1071 that were detected prenatally (68.5%). There were 12 210 FE performed for risk factors in the setting of a normal second-trimester ultrasound, which led to the detection of 49 additional cases of SCHD over 8 years. FE referrals for risk factors increased sensitivity by 3.1 percentage points (95% CI, 2.3-4.0; P<0.0001 for noninferiority). CONCLUSIONS: In the setting of a normal second-trimester ultrasound, adding a FE for risk factors offered low incremental value to the detection rate of SCHD in singleton pregnancies. The current ratio of clinical gains versus the FE resources needed to screen for SCHD in singleton pregnancies with isolated risk factors does not seem favorable. Further studies should evaluate whether these resources could be better allocated to increase SCHD sensitivity at the ultrasound level, and to help decrease heterogeneity between regions, institutions and operators.

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.

New and advanced features of fetal intelligent navigation echocardiography (FINE) or 5D heart.

Congenital heart disease (CHD) is the leading organ-specific birth defect, as well as the leading cause of infant morbidity and mortality from congenital malformations. Therefore, a comprehensive screening examination of the fetal heart should be performed in all women to maximize the detection of CHD. Four-dimensional sonography with spatiotemporal image correlation (STIC) technology displays a cine loop of a complete single cardiac cycle in motion. A novel method known as Fetal Intelligent Navigation Echocardiography (or FINE) was previously developed to interrogate STIC volume datasets using "intelligent navigation" technology. Such method allows the automatic display of nine standard fetal echocardiography views required to diagnose most cardiac defects. FINE considerably simplifies fetal cardiac examinations and reduces operator dependency. It has both high sensitivity and specificity for the detection of CHD. Indeed, FINE has been integrated into several commercially available ultrasound platforms.Recently, eight novel and advanced features have been developed for the FINE method and they will be described herein. Such features can be categorized based upon their broad goals. The first goal is to simplify FINE further, and consists of the following features: (1) Auto fetal positioning (or FINE align); (2) Skip points; (3) Predictive cursor; (4) Static mode volume; and (5) Breech sweep. The second goal is to allow quantitative measurements to be performed on the cardiac views generated by FINE: (6) Automatic cardiac axis; and (7) Cardiac biometry. Finally, the last goal is to improve the success of obtaining fetal echocardiography view(s); and consists of (8) Maestro planar navigation.

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.

Abnormal Extracardiac Development in Fetuses With Congenital Heart Disease.

BACKGROUND: Knowledge about extracardiac anomalies (ECA) in fetal congenital heart disease (CHD) can improve our understanding of the developmental origins of various outcomes in these infants. The prevalence and spectrum of ECA, including structural brain anomalies (SBA), on magnetic resonance imaging (MRI) in fetuses with different types of CHD and at different gestational ages, is unknown. OBJECTIVES: The purpose of this study was to evaluate ECA rates and types on MRI in fetuses with different types of CHD and across gestation. METHODS: A total of 429 consecutive fetuses with CHD and MRI between 17 and 38 gestational weeks were evaluated. ECA and SBA rates were assessed for each type of CHD and classified by gestational age (<25 or ≥25 weeks) at MRI. RESULTS: Of all 429 fetuses with CHD, 243 (56.6%) had ECA on MRI, and 109 (25.4%) had SBA. Among the 191 fetuses with normal genetic testing results, the ECA rate was 54.5% and the SBA rate 19.4%. Besides SBA, extrafetal (21.2%) and urogenital anomalies (10.7%) were the most prevalent ECA on MRI in all types of CHD. Predominant SBA were anomalies of hindbrain-midbrain (11.0% of all CHD), dorsal prosencephalon (10.0%) development, and abnormal cerebrospinal fluid spaces (10.5%). There was no difference in the prevalence or pattern of ECA between early (<25 weeks; 45.7%) and late (≥25 weeks; 54.3%) fetal MRI. CONCLUSIONS: ECA and SBA rates on fetal MRI are high across all types of CHD studied, and ECA as well as SBA are already present from midgestation onward.

Secuencia de perfusión arterial reversa en embarazo gemelar; coagulación de arteria nutricia. Reporte del primer caso en el país / Twin reversed arterial perfusion sequence; coagulation of the umbilical cord. A report on the first case in Uruguay / Seqüência reversa de perfusão arterial na gravidez gemelar; coagulação da artéria nutritiva. Relato do primeiro caso no país

Resumen: La secuencia de perfusión arterial reversa (TRAP) es una complicación muy poco frecuente y grave de los embarazos gemelares monocoriónicos. Generalmente ocurre cuando el corazón de un gemelo de apariencia normal sirve como bomba para uno o más gemelos dismórficos cuya cabeza, órganos torácicos y extremidades superiores no se desarrollan completamente o no se desarrollan en absoluto y, por lo tanto, carecen de actividad cardíaca. La arquitectura placentaria vascular anómala provoca un cambio en el flujo arterial hacia el gemelo acardíaco. Los mecanismos fisiopatológicos exactos que conducen a este fenómeno devastador no se conocen bien. Compartiremos el caso clínico de una paciente de 19 años, cursando un embarazo gemelar monocorial monoamniótico, en que realizamos diagnóstico de TRAPS, y realizamos la coagulación laser de la arteria nutricia del feto acárdico.

Abstract: Twin reversed arterial perfusion sequence (TRAPS) is rather an unusual and severe complication of monochorionic twin pregnancies. It usually occurs when the normal-appearance heart of a twin acts as a pump for one or more dysmorphic twins whose head, thoracic organs and upper limbs fail to totally develop or do not develop at all and thus, have no cardiac activity. The abnormal vascular architecture at the placenta changes the arterial flow towards the acardiac twin. The exact pathophysiological mechanisms that result in this devastating phenomenon are still unknown. The study presents the clinical case of a 19-year- old patient pregnant with monoamniotic, monochorionic twins and a diagnosis of TRAPS, treated by laser coagulation of the acardiac twin's umbilical cord.

Resumo: A seqüência reversa de perfusão arterial (TRAPS) é uma complicação muito rara e grave de gestações gemelares monocoriônicas. Geralmente ocorre quando o coração de um gêmeo de aparência normal serve como uma bomba para um ou mais gêmeos dismórficos cuja cabeça, órgãos torácicos e membros superiores não se desenvolvem totalmente ou não se desenvolvem e, portanto, não têm atividade cardíaca. A arquitetura vascular placentária anormal causa uma mudança no fluxo arterial para o gêmeo acardíaco. Os mecanismos fisiopatológicos exatos que levam a esse fenômeno devastador não são bem compreendidos. Descrevemos o caso clínico de uma paciente de 19 anos, portadora de gestação gemelar monocoriônica monoamniótica, na qual fizemos o diagnóstico de TRAPS e realizamos coagulação a laser da artéria nutritiva do feto acardíaco.

Utility of routine screening fetal echocardiogram in pregnancies conceived by in vitro fertilization.

OBJECTIVE: To study the incidence and clinical significance of congenital heart defects (CHDs) detected by fetal echocardiography in pregnancies conceived by in vitro fertilization (IVF). DESIGN: Cohort study comparing a prospectively maintained database of all fetal echocardiograms from 2012 to 2018 and pooled data from the Connecticut Birth Defects Registry and statewide hospital discharge data. SETTING: Large tertiary care center. PATIENT(S): A total of 181,749 live births and 9,252 fetal echocardiograms were analyzed. Fetal echocardiograms in patients with a previous child with a CHD, a family history of CHD, medication exposure, diabetes, anomaly in previous pregnancy, cardiac or other abnormality noted on previous ultrasound, or monochorionic twins were excluded from the final analysis. INTERVENTION(S): Treatment with IVF. MAIN OUTCOME MEASURE(S): Incidence of CHD and odds ratios with 95% confidence intervals (CIs). Infant outcomes for cases of CHD were evaluated for clinically significant disease, defined a priori as disease requiring any medical or surgical intervention or continued follow-up with pediatric cardiology. RESULT(S): Fetal echocardiography was performed in 2,230 IVF pregnancies, of which 2,040 were without other known risk factors for CHD. The mean gestational age at the time of fetal echocardiography was 22.2 ± 1.4 weeks. The odds ratio for CHD in the IVF group compared with statewide population rates was 1.4 (95% CI 0.9-2.1). CHD was diagnosed in 26 fetuses, of which 21 were clinically insignificant ventricular septal defects. One fetal echocardiogram was concerning for pulmonary stenosis that was not present at birth. Four defects were clinically significant, indicating that 510 fetal echocardiograms were performed for every diagnosis of one clinically significant CHD in the IVF group. CONCLUSION(S): The incidence of CHD in IVF pregnancies without other risk factors is not significantly different from baseline population rates, and most CHDs diagnosed by fetal echocardiography in this group are clinically insignificant. Routine screening with fetal echocardiography in all IVF pregnancies provides limited utility beyond routine prenatal care and need not be recommended without the presence of other risk factors.

Analysis of 3-Dimensional Arch Anatomy, Vascular Flow, and Postnatal Outcome in Cases of Suspected Coarctation of the Aorta Using Fetal Cardiac Magnetic Resonance Imaging.

BACKGROUND: Identifying fetuses at risk of severe neonatal coarctation of the aorta (CoA) can be lifesaving but is notoriously challenging in clinical practice with a high rate of false positives. Novel fetal 3-dimensional and phase-contrast magnetic resonance imaging (MRI) offers an unprecedented means of assessing the human fetal cardiovascular system before birth. We performed detailed MRI assessment of fetal vascular morphology and flows in a cohort of fetuses with suspected CoA, correlated with the need for postnatal intervention. METHODS: Women carrying a fetus with suspected CoA on echocardiography were referred for MRI assessment between 26 and 36 weeks of gestation, including high-resolution motion-corrected 3-dimensional volumes of the fetal heart and phase-contrast flow sequences gated with metric optimized gating. The relationship between aortic geometry and vascular flows was then analyzed and compared with postnatal outcome. RESULTS: Seventy-two patients (51 with suspected fetal CoA and 21 healthy controls) underwent fetal MRI with motion-corrected 3-dimensional vascular reconstructions. Vascular flow measurements from phase-contrast sequences were available in 53 patients. In the CoA group, 25 of 51 (49%) required surgical repair of coarctation after birth; the remaining 26 of 51 (51%) were discharged without neonatal intervention. Reduced blood flow in the fetal ascending aorta and at the aortic isthmus was associated with increasing angulation (P=0.005) and proximal displacement (P=0.006) of the isthmus and was seen in both true positive and false positive cases. A multivariate logistic regression model including aortic flow and isthmal displacement explained 78% of the variation in outcome and correctly predicted the need for intervention in 93% of cases. CONCLUSIONS: Reduced blood flow though the left heart is associated with important configurational changes at the aortic isthmus in fetal life, predisposing to CoA when the arterial duct closes after birth. Novel fetal MRI techniques may have a role in both understanding and accurately predicting severe neonatal CoA.

Contemporary Outcomes in Tetralogy of Fallot With Absent Pulmonary Valve After Fetal Diagnosis.

Background Tetralogy of Fallot with absent pulmonary valve is associated with high mortality, but it remains difficult to predict outcomes prenatally. We aimed to identify risk factors for mortality in a large multicenter cohort. Methods and Results Fetal echocardiograms and clinical data from 19 centers over a 10-year period were collected. Primary outcome measures included fetal demise and overall mortality. Of 100 fetuses, pregnancy termination/postnatal nonintervention was elected in 22. Of 78 with intention to treat, 7 (9%) died in utero and 21 (27%) died postnatally. With median follow-up of 32.9 months, no deaths occurred after 13 months. Of 80 fetuses with genetic testing, 46% had chromosomal abnormalities, with 22q11.2 deletion in 35%. On last fetal echocardiogram, at a median of 34.6 weeks, left ventricular dysfunction independently predicted fetal demise (odds ratio [OR], 7.4; 95% CI 1.3, 43.0; P=0.026). Right ventricular dysfunction independently predicted overall mortality in multivariate analysis (OR, 7.9; 95% CI 2.1-30.0; P=0.002). Earlier gestational age at delivery, mediastinal shift, left ventricular/right ventricular dilation, left ventricular dysfunction, tricuspid regurgitation, and Doppler abnormalities were associated with fetal and postnatal mortality, although few tended to progress throughout gestation on serial evaluation. Pulmonary artery diameters did not correlate with outcomes. Conclusions Perinatal mortality in tetralogy of Fallot with absent pulmonary valve remains high, with overall survival of 64% in fetuses with intention to treat. Right ventricular dysfunction independently predicts overall mortality. Left ventricular dysfunction predicts fetal mortality and may influence prenatal management and delivery planning. Mediastinal shift may reflect secondary effects of airway obstruction and abnormal lung development and is associated with increased mortality.

Gestational intermittent hyperoxia rescues murine genetic congenital heart disease in part.

Cardiac development is a dynamic process, temporally and spatially. When disturbed, it leads to congenital cardiac anomalies that affect approximately 1% of live births. Genetic variants in several loci lead to anomalies, with the transcription factor NKX2-5 being one of the largest. However, there are also non-genetic factors that influence cardiac malformations. We examined the hypothesis that hyperoxia may be beneficial and can rescue genetic cardiac anomalies induced by an Nkx2-5 mutation. Intermittent mild hyperoxia (40% PO2) was applied for 10 h per day to normal wild-type female mice mated with heterozygous Nkx2-5 mutant males from gestational day 8.5 to birth. Hyperoxia therapy reduced excessive trabeculation in Nkx2-5 mutant mice compared to normoxic conditions (ratio of trabecular layer relative to compact layer area, normoxia 1.84 ± 0.07 vs. hyperoxia 1.51 ± 0.04) and frequency of muscular ventricular septal defects per heart (1.53 ± 0.32 vs. 0.68 ± 0.15); however, the incidence of membranous ventricular septal defects in Nkx2-5 mutant hearts was not changed. Nkx2-5 mutant embryonic hearts showed defective coronary vessel organization, which was improved by intermittent mild hyperoxia. The results of our study showed that mild gestational hyperoxia therapy rescued genetic cardiac malformation induced by Nkx2-5 mutation in part.

Congenital right ventricular diverticulum formed by pulmonary regurgitative jet flow in a fetus with tetralogy of Fallot and absent pulmonary valve.

Congenital ventricular diverticulum is a rare anomaly with an unclear pathology. Here, we report a male fetus at 24 weeks of gestation, diagnosed with right ventricular diverticulum associated with tetralogy of Fallot and absent pulmonary valve. The diverticulum was located at the anterosuperior wall of the right ventricle and faced into the massive pulmonary regurgitation flow jet. Intrauterine fetal death from heart failure resulted at 26 weeks of gestation. An autopsy revealed significant subendocardial fibrosis in the diverticular wall without inflammatory cell infiltration. Clinical and pathologic features suggested that the regurgitative blood flow contributed to the formation of the right ventricular diverticulum.

Fetal Cardiac Functional Abnormalities Assessed by Echocardiography in Mothers Suffering Gestational Diabetes Mellitus: A Systematic Review and Meta-analysis.

Abnormal cardiovascular changes especially hypertrophic cardiomyopathy is potentially expected in the fetuses of the diabetic pregnancy women. However, there is still little consensus on quantitative cardiac abnormalities in infants with diabetic mothers. The present study comprehensively analyzed the studies on functional changes in heart in infants of diabetic mothers with a greater focus on occurrence of hypertrophic cardiomyopathy. All comparative studies evaluating and comparing quantitatively the changes in cardiac parameters using echocardiography in fetuses with and without diabetic mothers were eligible for assessment. The included studies were identified through electronically reviewing the manuscripts databases of MEDLINE, EMBASE, Web of knowledge, and Google Scholar from inception to May 2020. The meta-analysis included 11 comparative with overall 849 fetuses for gestational diabetic mothers and 1247 for healthy mothers. Assessing cardiac diameters by fetal echocardiography showed significantly lower mitral E/A ratio, lower tricuspid E/A ratio, higher interventricular septal thickness, higher myocardial performance index, higher isovolumic relaxation time, and higher isovolumic contraction time in fetuses of gestational diabetes mellitus group as compared to healthy group adjusting for gestational diabetes mellitus. The presence of gestational diabetes mellitus can potentially affect the fetal cardiac parameters especially as hypertrophic cardiomyopathy leading both cardiac systolic and diastolic dysfunction.