In 1959, 63 years after the death of John Langdon Down, Jérôme Lejeune discovered trisomy 21 as the genetic reason for Down syndrome. Screening for Down syndrome has been applied since the 1960s by using maternal age as the risk parameter. Since then, several advances have been made. First trimester screening, combining maternal age, maternal serum parameters and ultrasound findings, emerged in the 1990s with a detection rate (DR) of around 90–95% and a false positive rate (FPR) of around 5%, also looking for trisomy 13 and 18. With the development of high-resolution ultrasound, around 50% of fetal anomalies are now detected in the first trimester. Non-invasive prenatal testing (NIPT) for trisomy 21, 13 and 18 is a highly efficient screening method and has been applied as a first-line or a contingent screening approach all over the world since 2012, in some countries without a systematic screening program. Concomitant with the rise in technology, the possibility of screening for other genetic conditions by analysis of cfDNA, such as sex chromosome anomalies (SCAs), rare autosomal anomalies (RATs) and microdeletions and duplications, is offered by different providers to an often not preselected population of pregnant women. Most of the research in the field is done by commercial providers, and some of the tests are on the market without validated data on test performance. This raises difficulties in the counseling process and makes it nearly impossible to obtain informed consent. In parallel with the advent of new screening technologies, an expansion of diagnostic methods has begun to be applied after invasive procedures. The karyotype has been the gold standard for decades. Chromosomal microarrays (CMAs) able to detect deletions and duplications on a submicroscopic level have replaced the conventional karyotyping in many countries. Sequencing methods such as whole exome sequencing (WES) and whole genome sequencing (WGS) tremendously amplify the diagnostic yield in fetuses with ultrasound anomalies.

Premature constriction or closure of the ductus arteriosus can occur during fetal life. It is a rare phenomenon and has been described secondary to medication or structural lesions or as idiopathic constriction. Premature closure of the ductus arteriosus can lead to progressive right heart dysfunction with tricuspid regurgitation, congestive heart failure, fetal hydrops, and intrauterine death. This series describes diagnosis of fetal ductus arteriosus constriction of unknown etiology in 3 cases, prenatal management, and outcomes. Constriction of the ductus arteriosus can be diagnosed prenatally with careful interrogation of the ductal arch using pulsed Doppler sonography and complete fetal echocardiography. Close monitoring is mandatory to rule out development of right heart failure and to determine the intervention time.

Objective The outcome of patients with hypoplastic left heart syndrome (HLHS) is influenced by right ventricular function. This study aimed to investigate whether differences in right ventricular function of fetuses with HLHS are present during gestation. Methods This was a prospective study comprising 14 fetuses with HLHS (28 measurements obtained in total) and 28 normal control fetuses (31 measurements obtained in total). The two groups were matched for gestational age. Ultrasound M‐mode was used to assess displacement of the tricuspid annulus. Spectral Doppler and myocardial tissue Doppler‐derived inflow and outflow velocities were assessed. Tricuspid valve peak early wave to peak active wave (E/A) ratio, the early wave to early diastolic annular relaxation velocity (E/E′) ratio and the tissue Doppler‐derived myocardial performance index (MPI′) were calculated. Results E‐wave velocity was significantly higher in fetuses with HLHS than in control fetuses (mean, 40.14 cm/s vs 35.47 cm/s; P < 0.05, respectively), and A‐wave velocity in fetuses with HLHS showed a tendency for higher values in the right ventricle compared with normal control fetuses, but this did not reach statistical significance (61.16 cm/s vs 54.64 cm/s; P = 0.08). The E/A ratio increased during gestation in controls, but this increase was not seen in HLHS fetuses. Peak annular velocity during atrial contraction (A′) and the E/E′ ratio were significantly lower in controls than in HLHS fetuses: 9.50 cm/s vs 10.39 cm/s (P < 0.05) and 5.77 vs 7.37 (P < 0.05), respectively. There were no differences for right‐ventricular MPI′ or tricuspid annular plane systolic excursion between HLHS fetuses and controls. Conclusion The results of this study show that altered right ventricular function in HLHS infants may develop antenatally. It is hoped that confirmation of these findings using Doppler‐independent techniques will lead to further exploration of ventricular function in HLHS fetuses. Consequently, parental counseling and postnatal management strategies could be influenced. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

Objective: Postnatal outcome of fetuses with hypoplastic left heart syndrome (HLHS) is determined mainly by right ventricular function. Our study examines whether there are differences in right ventricular function during gestation of fetuses with HLHS compared with healthy fetuses.Methods: A prospective study was conducted including 20 fetuses with HLHS and 20 gestational age‐matched controls. Peak systolic and diastolic right ventricular free wall velocities were assessed using color tissue Doppler imaging (c‐TDI). Subsequently, isovolumic time intervals, ejection time (ET′), E′/A′ ratio and tissue Doppler‐derived myocardial performance index (MPI′) were calculated. Possible changes to c‐TDI indices during the course of pregnancy in both the HLHS group and the control group were investigated.Results: Examination of right ventricular function revealed significantly lower E′ velocities (13.6 vs 21.0 cm/s; P = 0.017) and E′/A′ ratios (0.55 vs 0.76; P = 0.012) and prolonged isovolumic contraction time (ICT′) (57.0 vs 45.7 ms; P = 0.008) in the HLHS group compared with healthy fetuses. Furthermore, isovolumic relaxation time and MPI′ increased significantly with gestational age in HLHS fetuses but not in controls. Values for systolic and diastolic peak velocities (E′, A′, S′), ET′ and ICT′ did not change significantly during gestation in either group.Conclusion: Right ventricular function in HLHS is altered as early as in fetal life, well before palliative surgery is performed. Future research should provide further insight into ventricular remodeling during gestation in cases of HLHS. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Objective: Interrupted aortic arch (IAA) is a rare but serious anomaly. Prenatal diagnosis is challenging and published data are limited. The aim of the study was to review the data of fetuses and neonates diagnosed with IAA during a 16-year period at Children’s Hospital Giessen. Methods: Retrospective ascertainment of 8 fetuses and 20 neonates with a confirmed diagnosis of IAA from 1994 to 2010 by reviewing the hospital database of the cardiovascular program of the prenatal and pediatric cardiology clinics at the University Hospital Giessen. Results: Eighteen cases with IAA type B and 10 cases with IAA type A were found. After 2005, prenatal diagnosis was achieved in 8 cases and postnatal imaging confirmed IAA in all 8 neonates. Twenty-nine percent of individuals had a chromosomal anomaly, with microdeletion 22q11.2 being the most common abnormality (n = 6, 21%). In 46% (13/28) other complex cardiac anomalies were present. Mortality after surgery was 18%. Long-term morbidity and mortality was due to neurological impairment in the presence of microdeletion 22q11.2 and the need of surgical or catheter re-intervention. Conclusion: Despite the difficulties and challenges in diagnosis, the prenatal detection rate of IAA is increasing. Associated complex cardiac and chromosomal abnormalities influence the outcome of patients with IAA and are important issues of parental counseling.