Impact of Socioeconomic Status, Race and Ethnicity, and Geography on Prenatal Detection of Hypoplastic Left Heart Syndrome and Transposition of the Great Arteries.

BACKGROUND: Prenatal detection (PND) has benefits for infants with hypoplastic left heart syndrome (HLHS) and transposition of the great arteries (TGA), but associations between sociodemographic and geographic factors with PND have not been sufficiently explored. This study evaluated whether socioeconomic quartile (SEQ), public insurance, race and ethnicity, rural residence, and distance of residence (distance and driving time from a cardiac surgical center) are associated with the PND or timing of PND, with a secondary aim to analyze differences between the United States and Canada. METHODS: In this retrospective cohort study, fetuses and infants <2 months of age with HLHS or TGA admitted between 2012 and 2016 to participating Fetal Heart Society Research Collaborative institutions in the United States and Canada were included. SEQ, rural residence, and distance of residence were derived using maternal census tract from the maternal address at first visit. Subjects were assigned a SEQ z score using the neighborhood summary score or Canadian Chan index and separated into quartiles. Insurance type and self-reported race and ethnicity were obtained from medical charts. We evaluated associations among SEQ, insurance type, race and ethnicity, rural residence, and distance of residence with PND of HLHS and TGA (aggregate and individually) using bivariate analysis with adjusted associations for confounding variables and cluster analysis for centers. RESULTS: Data on 1862 subjects (HLHS: n=1171, 92% PND; TGA: n=691, 58% PND) were submitted by 21 centers (19 in the United States). In the United States, lower SEQ was associated with lower PND in HLHS and TGA, with the strongest association in the lower SEQ of pregnancies with fetal TGA (quartile 1, 0.78 [95% CI, 0.64-0.85], quartile 2, 0.77 [95% CI, 0.64-0.93], quartile 3, 0.83 [95% CI, 0.69-1.00], quartile 4, reference). Hispanic ethnicity (relative risk, 0.85 [95% CI, 0.72-0.99]) and rural residence (relative risk, 0.78 [95% CI, 0.64-0.95]) were also associated with lower PND in TGA. Lower SEQ was associated with later PND overall; in the United States, rural residence and public insurance were also associated with later PND. CONCLUSIONS: We demonstrate that lower SEQ, Hispanic ethnicity, and rural residence are associated with decreased PND for TGA, with lower SEQ also being associated with decreased PND for HLHS. Future work to increase PND should be considered in these specific populations.

Extra-cardiac diagnoses and postnatal outcomes of fetal tetralogy of fallot.

OBJECTIVE: Past studies of fetal tetralogy of fallot (ToF) have reported extra-cardiac anomalies (ECAs) in 17%-45%, genetic syndromes in as low as 20% and poor postnatal outcomes. This study sought to examine these factors in a contemporary cohort. METHODS: A retrospective review examining 83 fetuses with ToF diagnosed 2012-2019. Referral indication, ToF subtype, additional cardiac, extra-cardiac and genetic diagnoses, pregnancy outcomes and survival were documented. RESULTS: The mean gestational age at diagnosis was 23 ± 4 weeks. Of 94% (78/83) with genetic testing (GT), 30% (23/78, 95%CI 21%-40%) had genetic anomalies (GA), including Trisomy 21 (39%, 9/23), 22q11 deletion (35%, 8/23), Trisomy 13 or 18 (17%, 4/23) and 9% (2/23) others. A further 4% (3/78) had VACTERL association. Forty-one percent (34/83, 95%CI 31%-52%) had ≥1 major ECA of whom 41% (14/34) also had a genetic anomaly. OUTCOMES: 22% (18/83) pregnancy termination, 5% (4/83) intrauterine death and 72% (60/83) live birth. Of live births, 3% (2/60) experienced neonatal death, 7% late death (4/60) and 90% (54/60) were alive at last follow-up (mean age 3.5 ± 2.4 years). CONCLUSION: In a cohort of fetuses with ToF and high rates of GT, compared to previous reports, GA were more common and there were similar rates of ECAs.

Prenatal features, associated co-morbidities and clinical course of agenesis of the ductus venosus in the current era.

OBJECTIVES: Agenesis of the ductus venosus (ADV) has been associated with additional anomalies in up to 83% of cases. We sought to investigate characteristics, co-morbidities and outcomes of ADV in the current era. We hypothesized that rates of cardiac and non-cardiac diagnoses and survival would be higher, due to advances in genetic testing, prenatal diagnosis and surveillance. METHODS: A retrospective series of cases diagnosed at our institution from 2007 to 2018 were identified by searching our database. Cardiac and obstetric charts were reviewed for cardiac and extra-cardiac anomalies, genetic results and outcomes. RESULTS: Fourteen cases were diagnosed at a mean gestational age of 23.9 weeks (range 13-33). All had associated genetic, cardiac or extra-cardiac anomalies. Eight (57%) had cardiac anomalies and one other developed cardiomyopathy by 6 months. Extra-cardiac anomalies were present in 93% (13/14) and genetic diagnoses made in 75% (6/8) of those tested. Cardiac output Z-scores were >2 in 60% (6/10) prior to delivery. Two had hydrops, there was one intra-uterine death, 13 live-births and two neonatal deaths. CONCLUSION: Our cohort had more associated diagnoses and a lower mortality than previously reported. In our experience, high output occurs frequently, however with a relatively low risk of hydrops and intrauterine death.

Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes.

OBJECTIVES: To document the clinical spectrum and outcomes of fetal double outlet right ventricle (DORV) without heterotaxy in a recent diagnostic era. METHODS: Prenatal cases of DORV consecutively diagnosed from 2007 to 2018 were retrospectively identified. Clinical records, including details regarding genetic testing and pre and postnatal imaging were reviewed. RESULTS: DORV was diagnosed in 99 fetuses without heterotaxy. The most common anatomic subtype was subaortic ventricular septal defect (VSD) and normally related great arteries with (n = 45, 45%) or without (n = 13, 13%) pulmonary stenosis. The remainder had a subpulmonic VSD with transposed great arteries (n = 15, 15%), atrioventricular valve atresia (n = 24, 24%), or remote VSD (n = 2, 2%). A genetic diagnosis was found in 32 (34%) of 93 tested. Major extracardiac anomalies were found in 40 (40%), including 17/24 (71%) with and 22/69 (32%) without an abnormal karyotype, with VACTERL association in 9. Genetic and/or extracardiac pathology was identified in 37/58 (64%) with a subaortic VSD, 5/15 (33%) with a subpulmonic VSD, 9/24 (38%) of those with AV valve atresia and 2/2 (100%) with a remote VSD. A genetic abnormality was a significant predictor of fetal demise (9/37 vs 1/62 p < 0.01) or pregnancy termination (12/35 vs 9/64 p = 0.03). CONCLUSIONS: Fetal DORV is associated with a high rate of genetic abnormalities and extracardiac pathology. The presence of genetic abnormalities impacts prenatal outcomes and parental decision-making.

Predicting Post-Fontan Length of Stay: The Limits of Measured Variables.

Post-operative length of stay (LOS) is an important metric for both healthcare providers and patients and their families. Predicting LOS is a challenge as it is sensitive to multitudinous patient and system factors. All subjects undergoing a Fontan from 1996-2016 who survived to hospital discharge were included. Details about the pre-operative status, operative conduct, and post-operative course of each patient were obtained. The association between patient characteristics and post-Fontan LOS were determined using stepwise multivariable regression models. Of 320 subjects who underwent a Fontan, 314 (98.1%) survived to hospital discharge. Median age at Fontan was 3.3 years (IQR 2.8, 4.0) and the most common underlying diagnosis was hypoplastic left heart syndrome (106, 33.8%). Median post Fontan LOS was 11 days (IQR 8, 17). Univariable risk factors for longer LOS included number of previous surgeries, post-Glenn LOS, cardiopulmonary bypass time, post-operative chylothorax, and failure to extubate in the operating room (all p < 0.05). In multivariable models, number of previous operations, extubation in the operating room, and postoperative complications predicted LOS (R2 = 0.5185 for full model). The proportion of patients discharged on week days (14.7-18.8% per day) was significantly higher than the proportion discharged on weekend days (5.1-9.9% per weekend day). Pre-operative variables have limited use in predicting post-Fontan length of stay. The most important predictors of post-operative LOS are extubation in the operating room and the occurrence of post-operative complications. However, a significant proportion of variability in LOS was not explained by available measurable variables.

Hybrid transatrial stent insertion for left atrial decompression in hypoplastic left heart syndrome with intact atrial septum.

OBJECTIVES: To describe a novel strategy for the management of infants with hypoplastic left heart syndrome (HLHS) and intact atrial septum. Antenatally diagnosed infants are delivered in cardiac theatre and immediate left atrial decompression (LAD) using hybrid transatrial stent insertion (HTSI) via sternotomy is carried out. BACKGROUND: HLHS with intact atrial septum is a condition incompatible with life following placental separation. Despite a number of reported strategies the survival of these infants remains much worse than those born with an adequate atrial communication. Immediate postnatal LAD is mandatory to allow consideration of active treatment. METHODS: Single institution retrospective review of intention to carry out HTSI for LAD in infants with an antenatal diagnosis of HLHS intact atrial septum. RESULTS: Two patients were delivered by planned caesarean section and transferred immediately to the prepared team in the adjacent cardiothoracic theatre. Birth weights were 3.2 Kg and 2.96 Kg. Clinical condition was poor with mean arterial PaO2 2.8kPa intubated with 100% inspired oxygen. HTSI was performed using premounted 7 × 17 mm stents (Visi-Pro™, eV3 Endovascular, Plymouth, MN). Mean arterial PaO2 improved to 6.2 kPa. Mean time from surgical incision to LAD was 26 min. Bilateral pulmonary artery bands (BPAB) were then placed. No procedural complications occurred and both patients underwent subsequent surgical stage 1 Norwood at 6 and 10 days. CONCLUSIONS: In this high-risk anatomical substrate, careful planning from accurate fetal diagnosis underpins the success of initial management. This early experience suggests that HTSI offers rapid and successful postnatal LAD with no procedural morbidity facilitating successful subsequent palliation. © 2015 Wiley Periodicals, Inc.

Predicting High-Risk Fetal Cardiac Disease Anticipated to Need Immediate Postnatal Stabilization and Intervention with Planned Pediatric Cardiac Operating Room Delivery.

BACKGROUND: Distances between delivery and cardiac services can make the care of fetuses with cardiac disease at risk of acute cardiorespiratory instability at birth a challenge. In 2013 we implemented a fetal echocardiography-based algorithm targeting fetuses considered high risk for acute cardiorespiratory instability at ≤2 hours of birth for delivery in our pediatric cardiac operating room of our children's hospital, and, herein, examine our experience. METHODS AND RESULTS: We reviewed maternal and postnatal medical records of all fetuses with cardiac disease encountered January 2013 to March 2022 considered high risk for acute cardiorespiratory instability. Secondary analysis was performed including all fetuses with diagnoses of d-transposition of the great arteries/intact ventricular septum (d-TGA/IVS) and hypoplastic left heart syndrome (HLHS) encountered over the study period. Forty fetuses were considered high risk for acute cardiorespiratory instability: 15 with d-TGA/IVS and 7 with HLHS with restrictive atrial septum, 4 with absent pulmonary valve syndrome, 3 with obstructed anomalous pulmonary veins, 2 with severe Ebstein anomaly, 2 with thoracic/intracardiac tumors, and 7 others. Pediatric cardiac operating room delivery occurred for 33 but not for 7 (5 with d-TGA/IVS, 2 with HLHS with restrictive atrial septum). For high-risk cases, fetal echocardiography had a positive predictive value of 50% for intervention/extracorporeal membrane oxygenation/death at ≤2 hours and 70% at ≤24 hours. Of "low-risk" cases, 6/46 with d-TGA/IVS and 0/45 with HLHS required intervention at ≤2 hours. Fetal echocardiography for predicting intervention/extracorporeal membrane oxygenation/death at ≤2 hours had a sensitivity of 67%, specificity 93%, and positive and negative predictive values of 80% and 87%, respectively, for d-TGA/IVS, and 100%, 95%, 71%, and 100% for HLHS, respectively. CONCLUSIONS: Fetal echocardiography can predict the need for urgent intervention in a majority with d-TGA/IVS and HLHS and in half of the entire spectrum of high-risk cardiac disease.

Heart transplantation following myocardial infarction due to Takayasu's arteritis.

We report a 14-yr-old girl who presented with cardiogenic shock because of compression of the left main coronary artery secondary to Takayasu's arteritis. The patient required cardiac transplantation with hemi-arch replacement at the time of transplant because of ascending aortitis. To our knowledge, this is the first case of cardiac transplantation in Takayasu's arteritis to be reported in the literature.

Accuracy of Fetal Echocardiography in Defining Anatomic Details: A Single-Institution Experience over a 12-Year Period.

BACKGROUND: Fetal echocardiography has evolved over four decades, now permitting the prenatal diagnoses of most major congenital heart disease (CHD). To identify areas for targeted improvement, the authors explored the diagnostic accuracy of fetal echocardiography in defining major fetal CHD. METHODS: All fetuses with major fetal CHD (11 subtypes) at a single institution between 2007 and 2018 were identified (n = 827). Fetal echocardiography reports were compared with postnatal imaging and surgical or autopsy reports, and findings were categorized as follows: category 1, no errors; category 2, minor errors without impact on care, considered "accurate"; category 3, errors with minor impact on surgical approach; and category 4, errors with major impact on neonatal care or outcomes, considered "inaccurate." In addition, the contributions of era, gestational age at first fetal echocardiography, serial fetal echocardiography, maternal weight, and reviewer level of training were examined. RESULTS: Of 589 fetuses with autopsy or postnatal confirmation, accurate diagnoses were made in 530 (90%). The highest rates of accuracy were observed in univentricular hearts (97.6%; 95% CI, 87.4%-99.6%), tetralogy of Fallot (97.2%; 95% CI, 90.0%-99.2%), and transposition of the great arteries (96.1%; 95% CI, 89.2%-98.6%), and the lowest were observed in double-outlet right ventricle (81.1%; 95% CI, 70.4%-88.6%), truncus arteriosus (72.7%; 95% CI, 51.8%-86.8%), and heterotaxy (71.1%; 95% CI, 56.6%-82.2%). Greater accuracy was associated with later diagnostic era (2012-2018, P = .026), first fetal echocardiography at ≤25 weeks (P = .028), and formal fetal cardiology training of the reviewer (P = .001). Maternal pre-pregnancy weight did not affect accuracy. CONCLUSIONS: The diagnostic accuracy of fetal echocardiography for major CHD is high, particularly in the hands of fetal cardiology-trained practitioners. There are lesion-specific as well as general modifiable and nonmodifiable factors that affect diagnostic accuracy.

The Diagnostic Yield of Fetal Echocardiography Indications in the Current Era.

BACKGROUND: The aim of this study was to examine the diagnostic yield of current fetal echocardiography (FE) indications representing a recent era. METHODS: FE reports of all pregnancies referred to two provincial FE programs from 2009 to 2018 were examined, identifying the indication for FE (14 categories), gestational age at referral, and whether there was no fetal heart disease (FHD), mild or possible FHD (e.g., simple ventricular septal defect, possible coarctation), or moderate or severe FHD. RESULTS: Over the study period, there were 19,310 unique FE referrals in Alberta (23.3 ± 5.4 weeks' gestation), including 1,907 (9.9%) with moderate or severe and 654 (3.4%) with mild or possible FHD. The most common referral indications included extracardiac pathology or markers (29.7%), maternal diabetes (18.3%), suspected FHD (17.7%), and family history of heart defects (17.7%). The highest yield for moderate or severe FHD was suspected FHD (41.1%; 95% CI, 39.4%-42.7%), followed by suspected or confirmed genetic disorder (15.4%; 95% CI, 12.6%-18.2%), twins or multiples (10.6%; 95% CI, 8.7%-12.5%), oligohydramnios (8.0%; 95% CI, 4.1%-11.9%), extracardiac pathology or markers (6.4%; 95% CI, 5.8%-7.1%), and heart not well seen (5.8%; 95% CI, 4.0%-7.6%). Lowest yields were observed for maternal diabetes (2.2%; 95% CI, 1.7%-2.7%) and family history of heart defects (1.7%; 95% CI, 1.3%-2.2%). Excluding suspected FHD, with two or more FE indications, all other indications demonstrated significant increases in yield of mild or possible (3.5% vs 1.9%, P < .001) and moderate or severe (7.2% vs 2.9%, P < .001) FHD. CONCLUSIONS: Suspected FHD provides the highest diagnostic yield of moderate or severe FHD. In contrast, maternal diabetes and family history of heart defects, among the most common referral indications, had diagnostic yields approaching general population risks. Even in the absence of suspected FHD, having two or more referral indications importantly increases the diagnostic yield of all other FE indications.

Atrioventricular block in an infant with an atrioventricular septal aneurysm.

A case of atrioventricular (AV) septal aneurysm presenting in late fetal life with AV block is reported. In the neonatal period, second-degree AV block occurred, which progressed during infancy to complete block. This report includes ante- and postnatal echocardiograms demonstrating the anatomy. Only three other reports of AV septal aneurysm are found in the literature, none of which describe heart rhythm disturbance.

Tetralogy of fallot with restrictive ventricular septal defect.

We present a case of tetralogy of Fallot with progressive restriction of the ventricular septal defect (VSD) by tricuspid valve tissue. The report includes echocardiographic and catheter images of this rare complication of tetralogy of Fallot. Restriction of the VSD in tetralogy of Fallot is associated with increased surgical-related mortality.

Early fetal echocardiography.

OBJECTIVES: To explore the technical aspects and clinical utility of early fetal echocardiography and screening of the fetal heart in early pregnancy. Also, to document differences in cardiac structure and function which can be demonstrated in the late first/early second trimesters. METHODS: In addition to summarizing our own experiences of late first/early second trimester fetal echocardiography, we reviewed the literature to explore clinical indications for, technical aspects, safety, accuracy, strengths and weaknesses of early fetal echocardiography. RESULTS: In the current era, an increasing number of fetuses are identified as being at risk of congenital heart disease from as early as the late first trimester. In experienced hands, early fetal echocardiography can pick up a high proportion of congenital heart disease with good reliability for the majority of lesions. Early fetal echocardiography is relatively poor at assessing pulmonary veins, the atrioventricular valves and lesions that typically occur later or progress during the course of pregnancy. There is increasing interest in widespread implementation of an early obstetric anomaly screen which includes an assessment of the fetal heart for all pregnancies. There are a variety of hemodynamic differences in the late first/early second trimester compared with later in pregnancy. CONCLUSION: Early fetal echocardiography is has become an established tool for detection of congenital heart disease. It affords opportunities to learn about the true spectrum and progression of congenital heart disease in-utero. Operators should be mindful of safety issues, technical aspects and hemodynamic findings which differ when performing echocardiograms at this stage of pregnancy.

Prenatal Detection, Comorbidities, and Management of Vascular Rings.

The 3-vessel and trachea view is now integrated into obstetrical screening and facilitates prenatal detection of vascular rings. We examined trends in prenatal detection, associated cardiac and extracardiac anomalies, and surgical management in this population. We reviewed a population-based cohort of pediatric vascular ring patients diagnosed prenatally and postnatally between 2002 and 2017 in Alberta, Canada. Of 106 cases, 28 (26%) had a prenatal diagnosis. Prenatal detection increased over time: 0/29 from 2002 to 2009, 4/28 (14%) from 2009 to 2011, 7/23 (30%) from 2012 to 2014, and 17/26 (65%) from 2015 to 2017 (p <0.01). The prenatal group more commonly had right aortic arch/left ductus/aberrant left subclavian artery (24/28vs 53/78, p = 0.04) and associated cardiac pathology (18/28vs 33/78, p = 0.05). The rate of genetic anomalies was overall higher than previously reported (34%) and did not differ between groups (11/28vs 25/78, p = 0.48). Those with a prenatal diagnosis were less likely to require cross-sectional imaging (9/28vs 48/78, p <0.01), modifying the vascular ring subtype diagnosis in 2 patients. Surgical intervention was common and did not differ between groups (24/28vs 66/78, p = 0.89). In conclusion, prenatal detection of vascular rings has increased. Despite differences in vascular ring subtype and associated cardiac pathology, the incidence of genetic anomalies and need for surgical intervention is not associated with timing of diagnosis. Genetic counseling should be universally offered. The diagnostic accuracy of echocardiography suggests additional imaging may not be routinely required.

The Incremental Benefit of Color Tissue Doppler in Fetal Arrhythmia Assessment.

BACKGROUND: Accurate fetal arrhythmia (FA) diagnosis is key for effective management. Currently, FA assessment relies on standard echocardiography-based techniques (M mode and spectral Doppler), which require adequate fetal position and cursor alignment to define temporal relationships of mechanical events. Few data exist on the application of color Doppler tissue imaging (c-DTI) in FA assessment. The aim of this study was to examine the feasibility and clinical applicability of c-DTI in FA assessment in comparison with standard techniques. METHODS: Pregnancies with diagnosed FA were prospectively recruited to undergo c-DTI following fetal echocardiography. Multiple-cycle four-chamber clips in any orientation were recorded (mean frame rate, 180 ± 16 frames/sec). With offline analysis, sample volumes were placed on atrial (A) and ventricular (V) free walls for simultaneous recordings. Atrial and ventricular rates, intervals (for atrial-ventricular conduction and tachyarrhythmia mechanism), and relationships were assessed to decipher FA mechanism. FA diagnosis by c-DTI, conventional echocardiographic techniques, and postnatal electrocardiography and/or Holter monitoring were compared. RESULTS: FA was assessed by c-DTI in 45 pregnancies at 15 to 39 weeks, including 16 with atrial and/or ventricular ectopic beats; 18 with supraventricular tachyarrhythmias, including ectopic atrial tachycardia in 11, atrioventricular reentrant tachycardia in four, atrial flutter in two, and intermittent atrial flutter and junctional ectopic rhythm in one; three with ventricular tachycardias; and eight with bradycardias or atrioventricular conduction pathology, including five with complete atrioventricular block (AVB), one with first-degree AVB evolving into complete AVB, one with second-degree AVB, and one with sinus bradycardia. After training, FA diagnosis by c-DTI could be made irrespective of fetal orientation within 10 to 15 min. FA diagnosis by c-DTI concurred with standard techniques in 41 cases (91%), with additional findings identified by c-DTI in 10. c-DTI led to new FA diagnoses in four cases (9%) not definable by standard techniques. FA diagnosis by c-DTI was confirmed in all 20 with persistent arrhythmias after birth, including three with new diagnoses defined by c-DTI. c-DTI was particularly helpful in deciphering SVT mechanism (long vs short ventricular-atrial interval) in all 18 cases, whereas standard techniques permitted definition in only half. CONCLUSIONS: c-DTI with offline analysis permits rapid and accurate definition of FA mechanism, providing new information in nearly one-third of affected pregnancies.

Evolution of the Fetal Atrioventricular Interval from 6 to 40 Weeks of Gestation.

Doppler-based methods of estimating the atrioventricular interval are commonly used as a surrogate for the electrical PR in fetuses at risk of conduction abnormalities; however, to date, normal values for the fetal atrioventricular interval and an understanding of the evolution of its components in the late first trimester are lacking. We sought to investigate changes in the fetal atrioventricular interval from the first trimester to 40 weeks gestational age, and to explore functional and electrophysiological events that potentially impact its evolution. We prospectively examined healthy pregnancies by fetal echocardiography from 6 to 40 weeks' gestational age. The atrioventricular interval, heart rate, isovolumic contraction time, and A-wave duration were measured from simultaneous ventricular inflow-outflow Doppler tracings. Regression analysis was used to examine relations with gestational age, and linear relations with heart rate were assessed by Pearson's correlation coefficient. Data were collected in 305 fetuses from 279 pregnancies. Atrioventricular interval demonstrated an inverse relation with heart rate (r = -0.45, p <0.0001), dramatically decreasing before 10 weeks and slowly increasing thereafter. Between 6 and 9 weeks, isovolumic contraction time acutely decreased approaching 0, thereafter minimally increasing to term. In contrast, from 6 weeks, the A-wave duration linearly increased through gestation, and negatively correlated with heart rate (r = -0.62, p <0.0001). In conclusion, we have established normal measures of the atrioventricular interval from 6 to 40 weeks' gestational age. Before 10 weeks, a prolonged atrioventricular interval in healthy fetuses largely reflects the lengthened isovolumic contraction time which is likely influenced by the evolution of ventricular function and afterload.

Common arterial trunk with thanatophoric dysplasia: a unique case.

We report a case of common arterial trunk with thanatophoric dysplasia. The skeletal dysplasia was diagnosed during fetal life. Following early induction of labour, there was a post-mortem diagnosis of type 2 common arterial trunk. This report includes the radiological and post-mortem findings. To our knowledge, thanatophoric dysplasia has never previously been reported in combination with any major cardiac defect.

Ductus arteriosus and fetal echocardiography: Implications for practice.

The ductus arteriosus (DA) is a crucial part of the fetal circulation, both in the normal fetus and in critical congenital heart disease (CHD). It allows shunting between the pulmonary and systemic circulations. In physiological prenatal conditions, the DA lets the majority of right ventricular output bypass the fluid-filled, high-resistance lungs. The DA can cause hemodynamic compromise in the fetus and neonate when constricted or absent (in isolation or in patients with CHD) and may lead to pre- or postnatal sequelae within other systems when forming part of a vascular ring. In CHD, the DA can be interrogated by fetal echocardiography to infer information regarding severity of pulmonary outflow tract obstruction, adequacy of the sub-pulmonary ventricle to supply pulmonary blood flow, and to predict the likelihood of atrial septum restriction in transposition of the great arteries. A good understanding of the DA is crucial for fetal cardiologists.

First-Trimester Fetal Echocardiography: Identification of Cardiac Structures for Screening from 6 to 13 Weeks' Gestational Age.

BACKGROUND: Early fetal echocardiography (FE), performed at 12 to 16 weeks' gestational age (GA), can be used to screen for fetal heart disease akin to that routinely performed in the second trimester. The efficacy of FE at earlier GAs has not been as well explored, particularly with recent advances in ultrasound technology. The aim of this study was to evaluate the efficacy of early FE in assessing fetal heart structure, and the added benefit of color Doppler (CD), from as early as 6 weeks through to 13+6 weeks' GA. METHODS: Pregnant women were prospectively recruited for first-trimester FE. All underwent two-dimensional (2D) cardiac imaging combined with CD assessment, and all were offered second-trimester fetal echocardiographic evaluations. Fetal cardiac anatomy was assessed both in real time during FE and additionally offline by two separate reviewers. RESULTS: Very early FE was performed in 202 pregnancies including a total of 261 fetuses, with 92% (n = 241) being reassessed at ≥18 weeks' GA. Mean GA at FE was 10+6 weeks (range, 6+1 to 13+6 weeks). Transabdominal scanning was used in all cases, and transvaginal scanning was used additionally in most at <11 weeks' GA (n = 103 of 117 [88%]). There was stepwise improvement in image resolution of the fetal heart in those pregnancies that presented at later gestation for assessment. CD assisted with definition of cardiac anatomy at all GAs. A four-chambered heart could be identified in 52% of patients in the eighth week (n = 12 of 23), improving to 80% (n = 36 of 45) in the 10th week and 98% (n = 57 of 58) by the 11th week. The inferior vena cava was visualized by 2D imaging in only 4% (n = 1 of 23) in the eighth week, increasing to 13% (n = 6 of 45) by the 10th week and 80% (n = 25 of 31) by the 13th week. CD improved visualization of the inferior vena cava at earlier GAs to >80% (n = 37 of 45) from 10 weeks. Pulmonary veins were not visualized by either 2D imaging or CD until after the 11th week. Both cardiac outflow tracts could be visualized by 2D imaging in the minority from 8+0 to 10+6 weeks (n = 18 of 109 [16%]) but were imaged in most from 11+0 to 13+6 weeks (n = 114 of 144 [79%]). CD imaging improved visualization of both outflow tracts to 64% (n = 29 of 45) in the 10th week. On 2D imaging alone, both the aortic and ductal arches were seen in only 29% of patients in the 10th week (n = 13 of 45), increasing to 58% when CD was used (58% [n = 26 of 45]) and to >80% (n = 47 of 58) using CD in the 11th week. CONCLUSIONS: Very early FE, from as early as 8 weeks, can be used to assess cardiac structures. The ability to image fetal heart structures between 6 and 8 weeks is currently nondiagnostic. The use of CD significantly increases the detection of cardiac structures on early FE. The ideal timing of complete early FE, excluding pulmonary vein assessment, appears to be after 11 weeks' GA.