Fetuses with right aortic arch Multicentre cohort study and meta-analysis.

OBJECTIVES: Recent antenatal screening guidelines for cardiac abnormalities has increased fetal diagnosis of right aortic arch (RAA). We aimed to establish outcome of fetal RAA without intra-cardiac abnormalities (ICA) to guide postnatal management. METHODOLOGY: Retrospective cohort study. Outcome measures were rates of chromosomal abnormalities, 22q11.2 deletion, fetal extra-cardiac abnormalities (ECA), postnatal ICA and ECA, symptoms and surgery for vascular ring. A systematic review and meta-analysis (reference: CRD42015016097) was performed; results are reported as proportions. Kaplan Meier analysis of vascular ring cases with surgery as endpoint was performed. RESULTS: Our cohort included 86 cases; 41 had a vascular ring. Rates of chromosomal abnormalities, 22q11.2 deletion, and fetal ECA were 14.1%, 6.4% and 17.4% respectively. Sixteen studies including our cohort (312 fetuses) were included in the systematic review. Overall chromosomal abnormalities and 22q11.2 deletion rates were 9.0% (95% CI 6.0-12.5) and 6.1% (95% CI 3.6-9.3) whilst rates for cases with no ECA were 4.6% (95% CI 2.3-7.8) and 5.1% (95% CI 2.4-8.6). ECA were seen in 14.6% (95% CI 10.6-19.0) prenatally and 4.0% (95%CI 1.5-7.6) after birth. Postnatal ICA were identified in 5.0% (95% CI 2.7-7.9). Rate of symptoms (follow up ≥24 months) was 25.2% (95% CI 16.6-35.0) while 17.1% (95% CI 9.9-25.7) had surgery. Two-year freedom from surgery was 83.0% (95% CI 74.3-90.1) CONCLUSIONS: Fetal RAA without ICA is more frequently associated with ECA than chromosomal abnormalities. Most cases however, are isolated. Vascular ring symptoms occur in about 25% of cases. Postnatal surveillance is required mainly in the first 2 years of life

Impact of prospective measurement of outflow tracts in the prediction of coarctation of the aorta

Background: Prenatal diagnosis of coarctation of the aorta (COA) is associated with reduced mortality and morbidity, however, accurate prenatal prediction remains challenging. To date, studies have measured the outflow tracts retrospectively to gauge the potential to predict COA. Our primary objective was to evaluate prospectively acquired measurements of the outflow tracts in prenatally suspected COA. A secondary aim was to report the postnatal prevalence of bicuspid aortic valve in this cohort. Methods: Measurement of the aortic valve, pulmonary valve, distal transverse aortic arch (DTAA) and arterial duct (AD) diameters were undertaken routinely in fetuses with suspected COA between 2002–2017. Using published reference ranges based on >7000 fetuses from our own unit, z scores were computed. Results: COA was confirmed after birth in 77/149 (52%) cases. DTAA z score and the z score of DTAA:AD were smaller in cases with confirmed COA compared to false positive (FP) (-2.8 vs -1.9, p=0.039; -3.13 vs -2.61, p=0.005, respectively). Multiple regression analysis demonstrated that z scores of DTAA and AD were the only significant predictors (p=0.001). Bicuspid aortic valve was identified in 30% of the FP group. Conclusion: Measurement of the DTAA and AD z scores can be used to attribute risk for postnatal COA in a selected cohort. The significance of the high incidence of bicuspid aortic valve in FP cases merits further study both with respect to aetiology and longer- term significance

Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with high nuchal translucency, tricuspid regurgitation and abnormal flow in the ductus venosus

Objective: To examine the association between fetal major heart defects and high nuchal translucency thickness (NT), tricuspid regurgitation and abnormal flow in the ductus venosus in a large population of singleton pregnancies undergoing a routine ultrasound examination at 11-13 weeks’ gestation. Methods: This was a retrospective study of prospectively collected data from singleton pregnancies attending for a routine ultrasound scan at 11-13 weeks’ gestation which included examination of fetal anatomy, measurement of NT, and assessment of blood flow across the tricuspid valve and in the ductus venosus according to a standardized protocol. The incidence of fetal NT ≥95th and NT ≥99th percentile, tricuspid regurgitation and reversed a-wave in the ductus venosus in fetuses with and without major heart defects was determined and the performance of each marker and their combination in the detection of major heart defects was calculated. Results: The study population of 93,209 pregnancies with no apparent chromosomal abnormality included 211 (0.23%) with major heart defects and 92,998 morphologically normal neonates. In 113 (53.6%) of the major heart defects the diagnosis was made at the 11-13 weeks scan, in 82 (38.9%) at the 18-24 weeks scan, in 10 (4.7%) at the third-trimester scan and in 6 (2.8%) postnatally. At the 11-13 weeks scan we diagnosed all cases of tricuspid or pulmonary atresia and polyvalvular dysplasia, >90% of cases of hypoplastic left heart syndrome or atrioventricular septal defect, about 60% of complex heart defects and left atrial isomerism (interrupted inferior vena cava with normal intracardiac anatomy), 30-40% of tetralogy of Fallot and arch abnormalities, 25% of tricuspid valve abnormalities, about 15% of transposition of great arteries, but none of aortic or pulmonary stenosis and common arterial trunk. Fetal NT ≥95th percentile, NT ≥99th percentile, tricuspid regurgitation, or abnormal ductus venosus flow was observed in 77 (36.5%), 45 (21.3%), 61 (28.9%), and 58 (27.5%) of the fetuses with major heart defects, respectively, and in 5,678 (6.1%), 857 (0.9%), 1,136 (1.2%), and 1,644 (1.8%) of those without heart defects. Any one of NT ≥95th, tricuspid regurgitation or abnormal flow in the ductus venosus was found in 117 (55.5%, 95% CI 48.5–62.3%) of the fetuses with heart defects and in 8,166 (8.8%, 95% CI 8.6-9.0%) of those without heart defects. Any one of NT ≥99th percentile and the other two markers was found in 99 of the fetuses with heart defects (46.9%, 95% CI 40.0-53.9%) and in 3,517 of those without heart defects (3.8%, 95% CI 3.7-3.9%). Conclusion: At 11-13 weeks’ gestation measurement of fetal NT and assessment of flow across the tricuspid valve and in the ductus venosus can lead to the early diagnosis of major heart defects

Reference ranges for the size of the fetal cardiac outflow tracts from 13 to 36 weeks gestation: a single-center study of over 7000 cases

BACKGROUND: Assessment of the outflow tract views is an integral part of routine fetal cardiac scanning. For some congenital heart defects, notably coarctation of the aorta, pulmonary valve stenosis, and aortic valve stenosis, the size of vessels is important both for diagnosis and prognosis. Existing reference ranges of fetal outflow tracts are derived from a small number of cases. METHODS AND RESULTS: The study population comprised 7945 fetuses at 13 to 36 weeks’ gestation with no detectable abnormalities from pregnancies resulting in normal live births. Prospective measurements were taken of (1) the aortic and pulmonary valves in diastole at the largest diameter with the valve closed, (2) the distal transverse aortic arch on the 3 vessel and trachea view beyond the trachea at the distal point at its widest systolic diameter, and (3) the arterial duct on the 3 vessel and trachea view at its widest systolic diameter. Regression analysis, with polynomial terms to assess for linear and nonlinear contributors, was used to establish the relationship between each measurement and gestational age. The measurement for each cardiac diameter was expressed as a z score (difference between observed and expected value divided by the fitted SD corrected for gestational age) and percentile. Analysis included calculation of gestation-specific SDs. Regression equations are provided for the cardiac outflow tracts and for the distal transverse aortic arch:arterial duct ratio. CONCLUSIONS: The study established reference ranges for fetal outflow tract measurements at 13 to 36 weeks’ gestation that are useful in clinical practice

Early Lung Function Testing in Infants with Aortic Arch Anomalies Identifies Patients at Risk for Airway Obstruction

BACKGROUND: Aortic arch anomalies (AAA) are rare cardio-vascular anomalies. Right-sided and double-sided aortic arch anomalies (RAAA, DAAA) are distinguished, both may cause airway obstructions. We studied the degree of airway obstruction in infants with AAA by neonatal lung function testing (LFT). PATIENTS AND METHODS: 17 patients (10 RAAA and 7 DAAA) with prenatal diagnosis of AAA were investigated. The median (range) post conception age at LFT was 40.3 (36.6-44.1) weeks, median body weight 3400 (2320-4665) g. Measurements included tidal breathing flow-volume loops (TBFVL), airway resistance (R(aw)) by bodyplethysmography and the maximal expiratory flow at functional residual capacity (V'(max)FRC) by rapid thoracic-abdominal compression (RTC) technique. V'(max)FRC was also expressed in Z-scores, based on published gender-, age and height-specific reference values. RESULTS: Abnormal lung function tests were seen in both RAAA and DAAA infants. Compared to RAAA infants, infants with DAAA had significantly more expiratory flow limitations in the TBFVL, (86% vs. 30%, p<0.05) and a significantly increased R(aw) (p = 0.015). Despite a significant correlation between R(aw) and the Z-score of V'(max)FRC (r = 0.740, p<0.001), there were no statistically significant differences in V'(max)FRC and it's Z-scores between RAAA and DAAA infants. 4 (24%) infants (2 RAAA, 2 DAAA) were near or below the 10(th) percentile of V'(max)FRC, indicating a high risk for airway obstruction. CONCLUSION: Both, infants with RAAA and DAAA, are at risk for airway obstruction and early LFT helps to identify and to monitor these infants. This may support the decision for therapeutic interventions before clinical symptoms arise

Comparison of echocardiographic findings in fetuses at less than 15&#8201;weeks&apos; gestation with later cardiac evaluation

OBJECTIVE: To compare the echocardiographic findings in fetuses at <\u200915\u2009weeks' gestation with a later follow-up scan, and determine both the accuracy of early diagnosis and the frequency of findings that change between scans. METHODS: For the period 2002 to the end of 2009, we searched our database for all patients who had had a detailed fetal echocardiogram at less than 15 completed weeks' gestation and a repeat scan at least 6\u2009weeks later. RESULTS: Of 1200 patients fulfilling our selection criteria, the cardiac findings were normal at both scans in 1069. In 46 cases the same cardiac abnormality was seen at both scans. There was a false-positive diagnosis at early scan in seven cases. In 50 cases, there were mildly abnormal functional findings early in pregnancy with no abnormality found later. In 29 fetuses, there was discordance between the early and later morphological diagnosis, 15/29 being considered significant differences, with 10/15 representing true progression of findings between the early and later scans, rather than missed or incorrect diagnoses. CONCLUSIONS: A high degree of accuracy in the identification of congenital heart disease can be achieved by early fetal echocardiography (sensitivity 84.8 (95% CI, 75.0-91.9)%, specificity 95.3 (95% CI, 93.9-96.4)%), although the identification of every case of tetralogy of Fallot and small atrioventricular septal defects presents particular diagnostic challenges at this gestational age. A small but significant group showed progression of findings during this stage of rapid fetal heart growth, particularly in obstructive lesions