Objective Congenital heart disease (CHD) is the most common congenital malformation and causes major morbidity and mortality. Prenatal detection improves the neonatal condition before surgery, resulting in less morbidity and mortality. In the Netherlands a national prenatal screening programme was introduced in 2007. This study evaluates the effects of this screening programme. Design Geographical cohort study. Setting Large referral region of three tertiary care centres. Population Fetuses and infants diagnosed with severe CHD born between 1 January 2002 and 1 January 2012. Methods Cases were divided into two groups: before and after the introduction of screening. Main outcome measures Detection rates were calculated. Results The prenatal detection rate (n = 1912) increased with 23.9% (95% confidence interval [95% CI] 19.5–28.3) from 35.8 to 59.7% after the introduction of screening and of isolated CHD with 21.4% (95% CI 16.0–26.8) from 22.8 to 44.2%. The highest detection rates were found in the hypoplastic left heart syndrome, other univentricular defects and complex defects with atrial isomerism (>93%). Since the introduction of screening, the ‘late’ referrals (after 24 weeks of gestation) decreased by 24.3% (95% CI 19.3–29.3). Conclusions This is the largest cohort study to investigate the prenatal detection rate of severe CHD in an unselected population. A nationally organised screening has resulted in a remarkably high detection rate of CHD (59.7%) compared with earlier literature.

CONTRIBUTIONWhat are the novel findings of this work? Screening for congenital heart defects (CHD) in a low-risk population is known to be challenging. This study shows that the quality of the cardiac planes obtained during the second-trimester standard anomaly scan (SAS), rather than circumstantial factors, plays an important role in the prenatal detection of CHD, which can be improved by increasing the volume of examinations performed by each sonographer per year. What are the clinical implications of this work?This study shows that adequate quality of the second-trimester SAS, especially in abnormal cases, is essential for prenatal detection of CHD. By setting up large screening centers, in which sonographers perform a high volume of examinations alongside sufficient training and monitoring of quality, the prenatal detection rate of CHD may further improve to the goal of 80%. ABSTRACTObjective Congenital heart defects (CHD) are still missed frequently in prenatal screening programs, which can result in severe morbidity or even death. The aim of this study was to evaluate the quality of fetal heart images, obtained during the second-trimester standard anomaly scan (SAS) in cases of CHD, to explore factors associated with a missed prenatal diagnosis. MethodsIn this case-control study, all cases of a fetus born with isolated severe CHD in the Northwestern region of The Netherlands, between 2015 and 2016, were extracted from the PRECOR registry. Severe CHD was defined as need for surgical repair in the first year postpartum. Each cardiac view (four-chamber view (4CV), three-vessel (3V) view and left and right ventricular outflow tract (LVOT, RVOT) views) obtained during the SAS was scored for technical correctness on a scale of 0 to 5 by two fetal echocardiography experts, blinded to the diagnosis of CHD and whether it was detected prenatally. Quality parameters of the cardiac examination were compared between cases in which CHD was detected and those in which it was missed on the SAS. Regression analysis was used to assess the association of sonographer experience and of screening-center experience with the cardiac examination quality score.Results A total of 114 cases of isolated severe CHD at birth were analyzed, of which 58 (50.9%) were missed and 56 (49.1%) were detected on the SAS. The defects comprised transposition of the great arteries (17%), aortic coarctation (16%), tetralogy of Fallot (10%), atrioventricular septal defect (6%), aortic valve stenosis (5%), ventricular septal defect (18%) and other defects (28%). No differences were found in fetal position, obstetric history, maternal age or body mass index (BMI) or gestational age at examination between missed and detected cases. Ninety-two cases had available cardiac images from the SAS. Compared with the detected group, the missed group had significantly lower cardiac examination quality scores (adequate score (≥ 12) in 32% vs 64%; P = 0.002), rate of proper use of magnification (58% vs 84%; P = 0.01) and quality scores for each individual cardiac p...

In this overview the current knowledge of the relationship between an increased nuchal translucency (NT) measurement and fetal heart structure and function in chromosomally normal fetuses is reviewed. Relevant pathophysiological theories behind the increased NT are discussed. Fetuses with an increased NT have an increased risk for congenital heart disease (CHD) with no particular bias for one form of CHD over another. This risk increases with increasing NT measurement. Although the NT measurement is only a modestly effective screening tool for all CHD when used alone, it may indeed be effective in identifying specific CHD "likely to benefit" from prenatal diagnosis. The combination of an increased NT, tricuspid regurgitation and an abnormal ductus venosus (DV) Doppler flow profile, is a strong marker for CHD. A fetal echocardiogram should be performed at 20 weeks' gestation in fetuses with an NT ≥95th percentile but <99th percentile. When the NT measurement is ≥99th percentile, or when tricuspid regurgitation and/or an abnormal DV flow pattern is found along with the increased NT, an earlier echocardiogram is indicated, followed by a repeat scan at around 20 weeks' gestation. The resultant increased demand for early fetal echocardiography and sonographers with this special expertise needs to be planned and provided for.

Objectives Two‐dimensional speckle‐tracking echocardiography (2D‐STE) is a promising technique which allows assessment of fetal cardiac function, and can be used in the evaluation of cardiac and non‐cardiac diseases in pregnancy. However, reliable fetal reference values for deformation parameters measured using 2D‐STE are needed before it can be introduced into clinical practice. This study aimed to obtain reference values for fetal global longitudinal strain (GLS) and GLS rate (GLSR) measured using 2D‐STE and compare right and left ventricular values. Methods This was a prospective longitudinal cohort study of uncomplicated pregnancies that underwent echocardiography every 4 weeks from inclusion at 18–21 weeks until delivery to obtain four‐chamber loops of the fetal heart. Left and right ventricular GLS and GLSR were measured using 2D‐STE at each examination. Using Bayesian mixed‐effects models, reference values with lower and upper 5% prediction limits were calculated according to gestational age. Right and left ventricular GLS values according to gestational age were compared using the Wilcoxon signed‐rank test. Results A total of 592 left ventricular and 566 right ventricular GLS and GLSR measurements were obtained from 124 women with uncomplicated pregnancy and non‐anomalous, appropriately grown fetuses. Reference values were obtained for both fetal ventricles according to gestational week. GLS and GLSR values of both ventricles increased (i.e. became less negative) significantly during pregnancy. Right ventricular GLS values were significantly higher (i.e. less negative) than the respective left ventricular values at every gestational week. Conclusions Reference values were obtained for fetal GLS and GLSR measured using 2D‐STE. GLS and GLSR values increased significantly for both ventricles from the second trimester until delivery. GLS values were significantly higher for the right ventricle compared with the left ventricle. Future studies are needed to assess whether the obtained reference values are helpful in clinical practice in the assessment of pregnancy complications, such as fetal growth restriction or cardiac anomaly. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.