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Objective: to assess the course and outcome of fetuses affected by primary cardiomyopathy (CM). Methods: Retrospective study of 21 cases with prenatal diagnosis of a primary CM in one tertiary center over a period of 20 years. Charts were reviewed for echocardiographic findings, pregnancy outcome, and postnatal course. The utility of prenatal evaluation was discussed. Results: The mean gestational age (GA) at diagnosis was 26.7 (±5.1) weeks. A total of 33.3% (7/21) had associated anomalies. Genetic etiology was confirmed in 50.0% (10/20, with one case lost to follow up). The overall survival rate of the entire study population was 40% (8/20) including termination of pregnancy in 20% (4/20) and an intrauterine mortality rate of 5% (1/20). Of the initial survivors (n = 15), a neonatal and early infant mortality rate of 46.7% (7/15) was calculated. Prenatal isolated right ventricular involvement was the only identified significant parameter for survival (p = 0.035). Four phenotypical groups were identified: 42.9% (9/21) hypertrophic (HCM), 38.1% (8/21) dilated (DCM), 14.3% (3/21) isolated noncompaction (NCCM), and 4.8% (1/21) restrictive CM (RCM). Fetuses assigned to isolated NCCM revealed a 100% survival rate. Conclusion: Prenatal detection is feasible but needs to a introduce classification method for better consulting and management practices. A poor outcome is still observed in many cases, but an increase in examiners’ awareness may influence optimal multispecialized care.

Background The carbohydrate antigen 125 (CA125) was proven as a robust biomarker for risk stratification in adults with heart failure. This is the first study analyzing CA125 in a cohort of infants with congenital diaphragmatic hernia (CDH). Methods Sixty-eight infants with CDH, treated at the University Children’s Hospital Bonn (Germany), between January 2018 and February 2021, were prospectively enrolled for analysis. CA125 values were measured at the following timepoints: 6,12, 24, 48 h, and during ECMO daily from day 1 to day 7. Results In infants not surviving to discharge, CA125 values were significantly higher at day 1 (6, 12, and 24 h). Infants with subsequent need for ECMO presented significantly higher CA125 values at 12 h of life. During ECMO, CA125 values measured at day 1 were significantly higher in infants not surviving to discharge. In the ROC analysis, a CA125 value of ≥10 U/ml was calculated as optimal cut-off for the prediction of ECMO and in-hospital mortality. CA125 values correlated significantly with the severity of PH and ventricular dysfunction. Conclusions CA125 values correlate significantly with echocardiographic markers of PH and ventricular dysfunction and correlate significantly with parameters of disease severity (need for ECMO, mortality). Impact CA125 was proven as robust cardiac biomarker in adult cohorts. Information about the utility as a biomarker in neonatal cohorts is lacking. This is the first study analyzing CA125 as a cardiac biomarker in a cohort of infants with congenital diaphragmatic hernia (CDH). CA125 correlates significantly with markers of echocardiographic assessment (PH and ventricular dysfunction) in infants with CDH and helps to identify infants at high risk for ECMO and in-hospital mortality. The results underline the need for the inclusion of cardiac biomarkers in the clinical routine in neonates at risk for cardiopulmonary failure.

Levosimendan as a calcium-sensitizer is a promising innovative therapeutical option for the treatment of severe cardiac dysfunction (CD) and pulmonary hypertension (PH) in preterm infants, but no data are available analyzing levosimendan in cohorts of preterm infants. The design/setting of the evaluation is in a large case-series of preterm infants with CD and PH. Data of all preterm infants (gestational age (GA) p p = 0.007, and p p p Conclusion: Levosimendan treatment is associated with an improvement of both CD and PH in preterm infants, with a stabilization of the mean arterial pressure during the treatment and a significant decrease of arterial lactate levels. Future prospective trials are highly warranted. What is Known: • Levosimendan as a calcium-sensitizer and inodilator is known to improve the low cardiac output syndrome (LCOS), and improves ventricular dysfunction, and PH, both in pediatric as well as in adult populations. Data related to critically ill neonates without major cardiac surgery and preterm infants are not available. What is New: • This study evaluated the effect of levosimendan on hemodynamics, clinical scores, echocardiographic severity parameters, and arterial lactate levels in a case-series of 105 preterm infants for the first time. Levosimendan treatment in preterm infants is associated with a rapid improvement of CD and PH, an increase of the mean arterial pressure, and a significant decrease in arterial lactate levels, as surrogate marker for a LCOS. • How this study might affect research, practice, or policy. As no data are available regarding the use of levosimendan in this population, our results hopefully animate the research community to conduct future prospective trails analyzing levosimendan in randomized controlled trials (RCT) and observational control studies. Additionally, our results potentially motivate clinicians to introduce levosimendan as second second-line therapy in cases of severe CD and PH in preterm infants without improvement using standard treatment strategies.

Objectives: To describe the outcomes of preterm born infants with congenital diaphragmatic hernia (CDH; ≤32.0 weeks of gestation) and the associations between prenatal imaging markers and survival. Design: Retrospective cohort study. Setting: Multicentre study in large referral centres. Population: Infants with an isolated unilateral CDH, live born at 32.0 weeks or less of gestation, between January 2009 and January 2020. Methods: Neonatal outcomes were evaluated for infants that were expectantly managed during pregnancy and infants that underwent fetoscopic endoluminal tracheal occlusion (FETO) therapy, separately. We evaluated the association between prenatal imaging markers and survival to discharge. Prenatal imaging markers included observed to expected lung-to-head ratio (o/e LHR), side of the defect, liver position, stomach position grade, and observed to expected total fetal lung volume (o/e TFLV). Main Outcome Measure: Survival to discharge. Results: We included 53 infants born at 30 +4 (interquartile range 29 +1–31 +2) weeks. Survival in fetuses expectantly managed during pregnancy was 48% (13/27) in left-sided CDH and 33% (2/6) in right-sided CDH. Survival in fetuses that underwent FETO therapy was 50% (6/12) in left-sided CDH and 25% (2/8) in right-sided CDH. The o/e LHR at baseline was positively associated with survival in cases expectantly managed during pregnancy (odds ratio [OR] 1.20, 95% CI 1.07–1.42, p < 0.01), but not in cases that received FETO therapy (OR 1.01, 95% CI 0.88–1.15, p = 0.87). Stomach position grade (p = 0.03) and o/e TFLV were associated with survival (p = 0.02); liver position was not (p = 0.13). Conclusions: In infants with CDH born at or before 32 weeks of gestation, prenatal imaging markers of disease severity were associated with postnatal survival.

Objectives Levosimendan as a calcium-sensitizer is a promising innovative therapeutical option for the treatment of severe cardiac dysfunction (CD) and pulmonary hypertension (PH) in preterm infants, but no data are available analyzing levosimendan in cohorts of preterm infants. Design/ Setting Retrospective single-center cohort study. Patients and Methods Retrospective single-center cohort study. Data of all preterm infants (gestational age (GA)

Background In obstetric and gynecological practice, ultrasound is the essential diagnostic tool. Nevertheless, few clinics have standardized and structured training curricula for young obstetricians in the field of obstetric and gynecological ultrasound. Since ultrasound is best learned hands-on in small supervised groups, we developed and implemented a comprehensive ultrasound curriculum for all postgraduate residents of our department using a peer-teaching concept. Methods We used Kern‘s six-step model of curricular development comprising (1) problem identification and general needs assessment, (2) needs assessment of the targeted learners, (3) goals and objectives, (4) educational strategies, (5) implementation, and (6) evaluation and feedback. Results Assistant physicians in the 1st and 2nd year of training received a theoretical and practical ultrasound basic course (six modules) in addition to their obligatory clinic rotations. The six main topics were prioritized according to service relevance and included the main features according to DEGUM, EBCOG and ISUOG. The units focused on a three-level training based on the AMEE levels: theoretical knowledge, well-founded theoretical knowledge and basic practical skills under guidance and self-employment of practical skills. Conclusion Structured and standardized sonographic training allows young gynecology and obstetrics residents to conceptually grasp and practically implement topic-related themes. Furthermore, the course concept demonstrates the high inter-rater agreement among DEGUM-certified examiners. More research is needed to analyze the learning outcomes for residents and the improvement of the patient's outcome by establishing such an ultrasound curriculum.

Objective: The aim of the objective was to compare the detection rate for trisomy 21 of universal cell free DNA (cfDNA) screening with contingent screening. Methods: Retrospective study was carried out at 3 German centers. The study included euploid and trisomy 21 pregnancies where cfDNA and first trimester (FT) screening assessment was carried out. The FT risk for trisomy 21 was computed based on combined screening and stratified into the following classes: high risk ≥1:10, intermediate risk 1:11–1,000, low risk ≤1,001. For universal cfDNA screening, the cfDNA test results were examined. For the contingent screening model, the result of the cfDNA test was taken into account in case of an intermediate FT risk. Different strategies combining maternal age, nuchal translucency, nasal bone, beta-hCG, and PAPP-A were evaluated. Screen positivity was defined as either a high risk after FT screening or a cfDNA test indicating a high-risk result. An inconclusive cfDNA test was also considered as screen positive. Results: The search of the database identified 2,255 euploid and 163 affected pregnancies. All affected fetuses were identified by universal cfDNA screening. 1.3% of the euploid fetuses were classified as screen positive due to final inconclusive cfDNA test result. The detection and false-positive rate of a contingent approach that is based on combined screening and cfDNA screening in the intermediate group would be 98.4% and 0.7%, respectively. With this approach, cfDNA screening would be necessary in only about 27% of all pregnancies. Conclusion: This study demonstrates that a contingent approach provides similar detection rates for trisomy 21 as universal cfDNA screening, by a reduction of 73% the number of cfDNA tests.

PURPOSE: To apply Doppler US (DUS)–gated fetal cardiac cine MRI in clinical routine and investigate diagnostic performance in complex congenital heart disease (CHD) compared with that of fetal echocardiography. MATERIALS AND METHODS: In this prospective study (May 2021 to March 2022), women with fetuses with CHD underwent fetal echocardiography and DUS-gated fetal cardiac MRI on the same day. For MRI, balanced steady-state free precession cine images were acquired in the axial and optional sagittal and/or coronal orientations. Overall image quality was assessed on a four-point Likert scale (from 1 = nondiagnostic to 4 = good image quality). The presence of abnormalities in 20 fetal cardiovascular features was independently assessed by using both modalities. The reference standard was postnatal examination results. Differences in sensitivities and specificities were determined by using a random-effects model. RESULTS: The study included 23 participants (mean age, 32 years ± 5 [SD]; mean gestational age, 36 weeks ± 1). Fetal cardiac MRI was completed in all participants. The median overall image quality of DUS-gated cine images was 3 (IQR, 2.5–4). In 21 of 23 participants (91%), underlying CHD was correctly assessed by using fetal cardiac MRI. In one case, the correct diagnosis was made by using MRI only (situs inversus and congenitally corrected transposition of the great arteries). Sensitivities (91.8% [95% CI: 85.7, 95.1] vs 93.6% [95% CI: 88.8, 96.2]; P = .53) and specificities (99.9% [95% CI: 99.2, 100] vs 99.9% [95% CI: 99.5, 100]; P > .99) for the detection of abnormal cardiovascular features were comparable between MRI and echocardiography, respectively. CONCLUSION: Using DUS-gated fetal cine cardiac MRI resulted in performance comparable with that of using fetal echocardiography for diagnosing complex fetal CHD. Keywords: Pediatrics, MR-Fetal (Fetal MRI), Cardiac, Heart, Congenital, Fetal Imaging, Cardiac MRI, Prenatal, Congenital Heart Disease Clinical trial registration no. NCT05066399 Supplemental material is available for this article. © RSNA, 2023 See also the commentary by Biko and Fogel in this issue.

Purpose In adults and fetuses, N-terminal pro-B-type natriuretic peptide (NT-proBNP) is a marker of cardiac failure and myocardial remodelling. We examined the effect of anemia and intrauterine transfusion (IUT) on NT-proBNP concentrations in fetuses with anemia and established gestational age-dependent reference values of a control group. Methods We analyzed NT-proBNP levels in anemic fetuses that underwent serial intrauterine transfusions (IUT), focusing on different causes and severity of anemia and comparing the results to a non-anemic control group. Results In the control group, the average NT-proBNP concentration was 1339 ± 639 pg/ml, decreasing significantly with increasing gestational age (R = − 74.04, T = − 3.65, p = 0.001). Subjects had significantly higher NT-proBNP concentrations before initiation of IUT therapy (p p Conclusion NT-pro BNP levels in non-anemic fetuses are higher than in postnatal life, decreasing with ongoing pregnancy. Anemia is a hyperdynamic state and its severity correlates with circulating NT-proBNP levels. Highest concentrations occur in fetuses with hydrops and with PVB19 infection, respectively. Treatment by IUT leads to a normalisation of NT-proBNP concentrations, so the measurement of its levels may be useful in therapy monitoring.

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith-Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype and the fetal outcomes.Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%) and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele which is evident from the first trimester. This article is protected by copyright. All rights reserved.

Purpose Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. Methods Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes. Results 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick–Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet–Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively. Conclusion Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.

Purpose Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic appearance in a single center between 1999 and 2020 with special focus on renal morphology and biometry, amniotic fluid and extrarenal findings and proposal for an diagnostic algorithm. Methods Retrospective observational study including pregnancies with prenatally detected kidneys with bilateral polycystic appearance (n = 98). Cases and outcomes were compared according to prenatal findings with special focus on renal morphology, amount of amniotic fluid, and presence of extrarenal abnormalities. Results Most frequent diagnoses were autosomal recessive polycystic kidney disease (ARPKD, 53.1%), Meckel–Gruber syndrome (MKS, 17.3%) and autosomal dominant polycystic kidney disease (ADPKD, 8.2%). Other diagnoses included: Joubert-, Jeune-, McKusick–Kaufman- and Bardet–Biedl syndrome, overgrowth syndromes, Mainzer–Saldino syndrome and renal tubular dysgenesis. Renal abnormalities most frequently observed were hyperechogenic parenchyma, kidney enlargement, changes of corticomedullary differentiation and cystic changes of various degree. Oligo- and anhydramnios were mainly seen in ARPKD, RTD and second-trimester MKS. Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27.6%). Conclusion Gestational age at manifestation, kidney size, visibility of cysts, echogenicity, amniotic fluid volume, and the presence of associated extrarenal malformations allow to differentiate between the most frequent underlying diseases presenting with bilateral polycystic kidneys on prenatal ultrasound by following a diagnostic algorithm.

To evaluate the outcome of first trimester intervention by intrafetal laser (IFL) in pregnancies complicated by twin reversed arterial perfusion (TRAP). For a 10-year study period, all patients with TRAP diagnosed 14.0 weeks of gestation were retrospectively analyzed for intrauterine course and outcome. Monoamniotic pregnancies were excluded. Patients were offered either intervention by IFL in the first trimester, expectant management, or termination of pregnancy (TOP). Adverse outcome was defined as either intrauterine death (IUD), neonatal death, or preterm birth. In 45 cases TRAP was diagnosed. 17 monoamniotics were excluded. The cohort was divided into two groups according to management. Group A: 24 cases underwent IFL and group B: 4 cases were managed expectantly. No patient opted for TOP. In group A, 70.8 % of pump twins were born alive, including one preterm delivery, and 29.2 % died within four days after the intervention. All 4 expectantly managed cases in group B had an adverse outcome (1 preterm delivery, 3 IUDs 15.0 weeks). There were no neonatal deaths. In cases treated by IFL, a comparison of survivors and non-survivors identified no significant differences in gestational age at IFL or any of the assessed biometrical and functional parameters. There was a trend towards better outcome in the second half of the study period. IFL in first trimester TRAP sequence is technically feasible but is associated with significant mortality, albeit less than previously reported. No risk stratification is possible using the investigated parameters. However, there seems to be a learning curve.ZIEL: Evaluation des Outcomes von Schwangerschaften mit Twin Reverse Arterial Perfusion (TRAP) nach intrafetaler Laserung (IFL) im 1. Trimester. Innerhalb einer 10-jährigen Studienperiode wurden alle TRAP-Sequenzen, diagnostiziert vor 14 + 0 SSW, hinsichtlich des intrauterinen Verlaufs und Outcomes retrospektiv evaluiert. Monoamniote Schwangerschaften wurden ausgeschlossen. Primäre Endpunkte waren intrauteriner Fruchttod (IUD), perinatale Mortalität und SSW bei Geburt. 45 TRAP-Sequenzen wurden diagnostiziert. 17 Monoamniote wurden ausgeschlossen. Die übrigen 28 Fälle wurden je nach Vorgehen in 2 Gruppen eingeteilt. Gruppe A: 24 Fälle mit IFL im 1. Trimester und Gruppe B: 4 Fälle mit exspektativem Management. Es erfolgte kein Schwangerschaftsabbruch (TOP). In Gruppe A wurden 70,8 % der Zwillinge lebend geboren (eine Frühgeburt), 29,2 % starben innerhalb von 4 Tagen nach Intervention. In Gruppe B hatten alle ein ungünstiges Outcome (1 Frühgeburt, 3 spontane IUD 15 + 0 SSW). Es gab keine neonatalen Todesfälle. Ein Vergleich Überlebender und Verstorbener bezüglich SSW bei Intervention sowie biometrischer und funktioneller Parameter ergab keine signifikanten Unterschiede. Lediglich die Analyse des Überlebens in Gruppe A, stratifiziert nach dem Jahr der Intervention, ergab einen Trend Richtung eines besseren Outcomes in der zweiten Hälfte des Studienzeitraums. IFL bei TRAP-Sequenz im 1. Trimester ist sinnvoll, aber mit einer signifikanten Mortalität behaftet, wenn auch geringer als vorbeschrieben. Eine Risikostratifikation anhand der untersuchten Parameter ist nicht möglich. Allerdings scheint es eine Lernkurve zu geben.

To assess the spectrum of associated cardiac anomalies, the intrauterine course, and postnatal outcome of fetuses with double inlet ventricle (DIV).Retrospective analysis of prenatal ultrasound of 35 patients with DIV diagnosed between 2003 and 2021 in two tertiary referral centers in Germany. All fetuses underwent fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports.33 cases of DIV were correctly diagnosed prenatally. 24 fetuses (72.7%) had a double inlet ventricle with dominant left (DILV), 7 (21.2%) with dominant right ventricular morphology (DIRV), and 2 cases (6%) with indeterminate morphology (DIIV). 4 (16.6%) were Holmes hearts. 5 of the 7 fetuses (71.4%) with DIRV had a double outlet right ventricle (DORV). Malposition of the great arteries was present in 84.8%. Chromosomal abnormalities were absent. Termination of pregnancy was performed in 8 cases (24.2%). 24 fetuses (72.7%) were live-born. 5 (20.8%) were female and 19 (79.2%) were male. The median gestational age at birth was 38+2.5 weeks. All but one child received univentricular palliation. The median follow-up time was 5.83 years with an adjusted survival rate of 91.6% (22 of 24 live-born children). There was one case of Fontan failure at 15.7 years.DIV remains a major cardiac malformation although both prenatal diagnostics and cardiac surgery have improved over the years. The course of pregnancy is commonly uneventful. All children need univentricular palliation. The children are slightly physically limited, develop a normal intellect, and attend school regularly.ZIEL: Beurteilung der assoziierten kardialen Anomalien, des intrauterinen und postnatalen Verlaufs von Feten mit doppeltem Einlassventrikel (DIV).Retrospektive Analyse der pränatalen Befunde von 35 Patienten mit DIV zwischen 2003 und 2021 in 2 tertiären Referenzzentren in Deutschland. Bei allen Feten wurden eine fetale Echokardiografie und eine Feindiagnostik durchgeführt. Postnatale Follow-up-Daten wurden aus pädiatrischen Berichten entnommen.33 Fälle von DIV wurden pränatal korrekt diagnostiziert. 24 Feten (72,7%) hatten einen DIV mit dominanter linker (DILV), 7 (21,2%) mit dominanter rechtsventrikulärer (DIRV) und 2 Fälle (6%) mit unbestimmter Morphologie (DIIV). 4 (16,6%) waren Holmes-Herzen. 5 der 7 Feten (71,4%) mit DIRV hatten einen DORV. Eine Malposition der großen Arterien lag in 84,8% vor. Aneuploidien waren nicht vorhanden. Ein Abbruch wurde in 8 Fällen (24,2%) durchgeführt. 24 Feten (72,7%) wurden lebend geboren, davon waren 5 (20,8%) weiblich und 19 (79,2%) männlich. Medianes Gestationsalter bei der Geburt betrug 38+2,5 Wochen. Bis auf ein Kind erhielten alle eine univentrikuläre Palliation. Das mediane Follow-up betrug 5,83 Jahre mit einer adjustierten Überlebensrate von 91,6% (22 von 24 Lebendgeborenen). Ein Fall von Fontan-Versagen mit 15,7 Jahren.DIV bleibt ein schwerer Herzfehler, auch wenn sich die pränatale Diagnostik und kardiochirurgische Palliation im Laufe der Jahre verbessert haben. Der Verlauf der Schwangerschaft ist meist problemlos. Alle Kinder erwartet eine univentrikuläre Palliation. Die Kinder sind körperlich leicht eingeschränkt, bei normalem Intellekt und gehen regelmäßig zur Schule.

Purpose To assess the spectrum of associated anomalies, the intrauterine course, postnatal outcome and management of fetuses with truncus arteriosus communis (TAC) Methods All cases of TAC diagnosed prenatally over a period of 8 years were retrospectively collected in two tertiary referral centers. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. Results 39 cases of TAC were diagnosed prenatally. Mean gestational age at first diagnosis was 22 weeks (range, 13–38). Two cases were lost follow-up. Correct prenatal diagnosis of TAC was made in 21 of 24 (87.5%) cases and of TAC subtype in 19 of 21 (90.5%) cases. Prenatal diagnosis of TAC was incorrect in three cases: one newborn had aortic atresia with ventricular septal defect postnatally, one had hypoplastic right ventricle with dextro Transposition of the Great Arteries with coartation of the aorta and a third newborn had Tetralogy of Fallot with abnormal origin of the left pulmonary artery arising from the ascending aorta postnatally. These three cases were excluded from further analysis. In 9 of 34 (26.5%) cases, TAC was an isolated finding. 13 (38.2%) fetuses had additional chromosomal anomalies. Among them, microdeletion 22q11.2 was most common with a prevalence of 17.6% in our cohort. Another 3 fetuses were highly suspicious for non-chromosomal genetic syndromes due to their additional extra-cardiac anomalies, but molecular diagnosis could not be provided. Major cardiac and extra-cardiac anomalies occurred in 3 (8.8%) and in 20 (58.8%) cases, respectively. Predominantly, extra-cardiac anomalies occurred in association with chromosomal anomalies. Additionally, severe IUGR occurred in 6 (17.6%) cases. There were 14 terminations of pregnancy (41.2%), 1 (2.9%) intrauterine fetal death, 5 postnatal deaths (14.7%) and 14 (41.2%) infants were alive at last follow-up. Intention-to-treat survival rate was 70%. Mean follow-up among survivors was 42 months (range, 6–104). Postoperative health status among survivors was excellent in 11 (78.6%) infants, but 5 (46.2%) of them needed repeated re-interventions due to recurrent pulmonary artery or conduit stenosis. The other 3 (21.4%) survivors were significantly impaired due to non-cardiac problems. Conclusion TAC is a rare and complex cardiac anomaly that can be diagnosed prenatally with high precision. TAC is frequently associated with chromosomal and extra-cardiac anomalies, leading to a high intrauterine and postnatal loss rate due to terminations and perioperative mortality. Without severe extra-cardiac anomalies, postoperative short- and medium-term health status is excellent, independent of the subtype of TAC, but the prevalence of repeated interventions due to recurrent stenosis is high.

Die Mortalitat von Patienten mit isoliert auftretenden angeborenen Zwerchfellhernien liegt in spezialisierten Zentren bei 20–40%. Wesentliche, das Outcome beeinflussende Faktoren, sind die bestehende Lungenhypoplasie, eine daraus resultierende pulmonale Hypertonie, sowie das Vorliegen weiterer Fehlbildungen. Begleitfehlbildungen wie angeborene Herzfehler treten bei ca. 18% aller Neonaten mit Zwerchfellhernie auf. Schwere angeborene Herzfehler wie das hypoplastische Linksherz Syndrom zeigen sich in ca. 8% der Falle. In einer retrospektiven Analyse des Patientenkollektivs unserer Klinik zwischen 01/2012 und 12/2018 wurde das pra- und postnatale Management, sowie das Outcome von Neugeborenen mit der Kombination aus angeborenen Herzfehlern und Zwerchfellhernien untersucht. Im Studienzeitraum wurden in unserer Klinik 156 Neugeborene mit Zwerchfellhernie behandelt. Bei 10 Patienten (6,4%) lag zusatzlich ein schwerer, bei 11 Patienten (7,1%) ein moderater Herzfehler vor. 6/21 Patienten verstarben im Verlauf des Krankenhausaufenthaltes, davon 3 am ersten Lebenstag. Es zeigte sich eine deutlich geringere Mortalitat bei Patienten mit Zwerchfellhernie und moderatem Herzfehler im Vergleich zu schwerem Herzfehler (9 vs. 50%). Besonders hoch lag die Mortalitat bei Kindern mit einem univentrikularen Herzen. Trotz einer deutlich reduzierten Prognose bei der Kombination aus angeborenem Herzfehler und Zwerchfellhernie muss nicht generell mit einer infausten Prognose gerechnet werden. In spezialisierten Zentren kann ein kurativer Ansatz erfolgen. The mortality of patients with isolated congenital diaphragmatic hernia (CDH) in specialized centers is 20–40%. The main factors influencing the outcome are the underlying pulmonary hypoplasia, the resulting pulmonary hypertension and the presence of other malformations. Concomitant malformations such as congenital heart defects occur in around 18% of all neonates with a diaphragmatic hernia. Serious congenital heart defects such as hypoplastic left heart syndrome occur in approximately 8% of cases. In a retrospective analysis of the patient collective of our hospital between 01/2012 and 12/2018, the prenatal and postnatal management as well as the outcome of newborns with a combination of congenital heart defects and diaphragmatic hernias were examined. During the study period, 156 newborns with diaphragmatic hernias were treated at our institution. In 10 patients (6.4%) there was also a severe, and in 11 patients (7.1%) a moderate heart defect. 6/21 patients died during their hospital stay, 3 of them on the first day of life. There was a significantly lower mortality in patients with diaphragmatic hernia and moderate heart defects compared to severe heart defects (9 vs. 50%). The mortality in children with a univentricular heart was particularly high. Despite a significantly reduced prognosis for the combination of congenital heart defects and diaphragmatic hernia, generally a poor prognosis does not have to be expected. A curative approach can be achieved in specialized centers.

Introduction: The aim of this study is to evaluate the outcome of pregnancies complicated by monochorionic monoamniotic twin reversed arterial perfusion sequence (MOMA TRAP) diagnosed in the first trimester. Methods: All patients diagnosed with MOMA TRAP sequence Results: In the study period, 17 cases with MOMA TRAP sequence were diagnosed. Of these, 2 couples opted for termination of pregnancy. The remaining 15 were divided into 2 groups depending on the management: group A (n = 8) with expectant management and group B (n = 7) with intrauterine intervention. All fetuses in group A died before 20 weeks. Survival in group B was significantly better with 4/7 (57.1%) life births at a median of 39.6 weeks of gestation (p = 0.0256). The reasons for IUD in the 3 cases in group B were hemodynamic, strangulation, and bleeding complications during intervention. Conclusions: Intrauterine intervention in MOMA TRAP pregnancies significantly improves neonatal survival, although it is still associated with a substantial risk for IUD by hemodynamic complications or entanglement.

Objective Evaluation of course and outcome of pregnancies with prenatally diagnosed fetal teratomas of various locations in a single center between 2002 and 2019. Methods Retrospective observational single-center study including prenatally suspected or diagnosed fetal teratomas. Focus was put on ultrasound findings during pregnancy. Complications, need for intervention and outcomes were compared according to tumor location. Results 79 cases of fetal teratomas were seen at our center between 2002 and 2019. Most frequent tumor locations were the sacrococcygeal region (59.5%), neck (20.2%) and oropharynx (7.6%). Complications mainly included polyhydramnios and cardiac compromise. Need for intervention during pregnancy was significantly higher in pericardial teratomas. Preterm birth before 37 and early preterm birth before 32 weeks occurred in 72.7% and 29.1%, respectively. Major causes of perinatal death were tumor bleeding in sacrococcygeal teratomas (SCTs) and respiratory failure in cervical and oropharyngeal teratomas. Conclusion There is a high need for intervention in pregnancies complicated by fetal teratomas. Pericardiocentesis in pericardial teratomas is often inevitable to reduce the risk of intrauterine demise. Amniotic fluid drainage in associated severe polyhydramnios helps to reduce the risk of preterm birth, a major cause of additional morbidity and mortality. MRI in supplement to prenatal ultrasound is useful in fetal teratomas of the neck and oropharynx in order to plan delivery.

Purpose Evaluating procedure-related complications and perinatal outcomes after intrauterine transfusion (IUT) before or after 20+0 weeks of gestation in fetuses with severe anemia due to intrauterine human parvovirus B19 infection. Methods A retrospective study investigating fetuses requiring IUT for fetal Parvo B19 infection in two tertiary referral centers between December 2002 and December 2021. Procedure-related complications, intrauterine fetal death (IUFD), and perinatal outcome were correlated to gestational age (GA) at first IUT, the presence of hydrops and fetal blood sampling results. Results A total of 186 IUTs were performed in 103 fetuses. The median GA at first IUT was 19+3 (13+0–31+4) weeks of gestation. IUFD occurred in 16/103 fetuses (15.5%). Overall survival was 84.5% (87/103). Hydrops (p = 0.001), lower mean hemoglobin at first IUT (p = 0.001) and low platelets (p = 0.002) were strongly associated with IUFD. There was no difference observed in fetuses transfused before or after 20+0 weeks of gestation. Conclusion IUT is a successful treatment option in fetuses affected by severe anemia due to parvovirus B19 infection in specialized centers. In experienced hands, IUT before 20 weeks is not related to worse perinatal outcome.

Aorto-left ventricular tunnel (ALVT) is an extremely rare, albeit prenatally detectable, extracardiac channel that connects the ascending aorta to the cavity of the left ventricle. All ALVTs diagnosed prenatally (2006-2020) in five tertiary referral centers were retrospectively assessed for prenatal ultrasound findings, intrauterine course, postnatal outcome, and surgical treatment. We focused on the size of the tunnel and alterations of perfusion of the left ventricular outflow tract and aortic arch. 11 fetuses were diagnosed with ALVT at a mean gestational age of 24.8 weeks. All cases were associated with severe dilatation of the left ventricle and a to-and-fro flow in the left outflow tract. Signs of congestive heart failure were present in five fetuses, four of which were terminated and one of which died in the neonatal period. One fetus died in utero at 34 weeks without prior signs of cardiac failure. Of the five survivors, two underwent the Ross procedure. In both cases the prenatal left ventricular outflow was exclusively via a large tunnel. The remaining three neonates underwent patch closure of the tunnel. In these cases, the prenatal outflow of the left ventricle was via the aortic valve and simultaneously over the tunnel. Prenatal diagnosis of ALVT should be considered in the presence of left ventricular hypertrophy, dilatation of the aortic root, and to-and-fro flow in the aortic outflow tract. Signs of heart failure are associated with an unfavorable outcome. Large tunnels, particularly in combination with the absence of flow over the aortic valve, may be an unfavorable predictor of surgical repair.ZIEL: Der aorto-links ventrikuläre Tunnel (ALVT) ist ein sehr seltener, aber pränatal diagnostizierbarer, extrakardialer Tunnel, der die Aorta ascendens mit dem linken Ventrikel verbindet. Retrospektive Analyse aller ALVT aus 5 Referenzzentren für Pränataldiagnostik (2006–2020) hinsichtlich pränataler Ultraschallbefunde, intrauterinem Verlauf, postnatalem Outcome und operativer Versorgung. Als potenziell prognostische Marker wurden die Größe des Tunnels und die Perfusionsparameter des Aortenbogens untersucht. Bei 11 Feten wurde ein ALVT diagnostiziert (Median 24,8 SSW). Alle Fälle zeigten eine linksventrikuläre Hypertrophie und einen Pendelfluss im linksventrikulären Ausflusstrakt. Fünf Feten hatten Zeichen einer Herzinsuffizienz; 4 dieser Schwangerschaften wurden abgebrochen und ein Neugeborenes verstarb nach Palliativtherapie. Ein Fet ohne Herzinsuffizienz-Zeichen verstarb intrauterin mit 34. SSW. Zwei der 5 überlebenden Kinder wurden mit einer Ross-Operation versorgt. In beiden Fällen erfolgte der pränatale linksventrikuläre Auswurf ausschließlich über einen großen Tunnel. Die anderen 3 Überlebenden erhielten einen Patch-Verschluss des ALVT. In diesen Fällen war der pränatale linksventrikuläre Ausfluss nicht nur über den Tunnel, sondern auch über die Aortenklappe vorhanden. Die pränatale Diagnose eines ALVT sollte bei linksventrikulärer Hypertrophie und Pendelfluss im linksventrikulären Ausflusstrakt vermutet werden. Herzinsuffizienz-Zeichen sind mit einem ungünstigen Outcome assoziiert. Große ALVT, insbesondere in Kombination mit fehlendem Auswurf über die Aortenklappe, verschlechtern die Korrekturoptionen.

(1) Background: The aim of this study was to compare perinatal outcomes and complication rates of vesicoamniotic shunting (VAS) before 17 + 0 weeks in isolated LUTO (lower urinary tract obstruction) with the Somatex® intrauterine shunt vs. the Harrison fetal bladder shunt. (2) Methods: This is a retrospective cohort study in two tertiary fetal medicine centers. From 2004–2014, the Harrison fetal bladder shunt was used, and from late 2014–2017, the Somatex shunt. Obstetrics and pediatric charts were reviewed for complications, course of pregnancy, perinatal outcome, and postnatal renal function. (3) Results: Twenty-four fetuses underwent VAS with a Harrison (H) shunt and 33 fetuses with a Somatex (S) shunt. Live birth rates and survival to last follow-up were significantly higher in the Somatex group, at 84.8% and 81.8%, respectively, vs. 50% and 33.3% in the Harrison group (p = 0.007 and p < 0.001). The dislocation rate in the Somatex group (36.4%) was significantly lower than in the Harrison group (87.5%) (p < 0.001). The median time to dislocation was significantly different, at 20.6 days (H) vs. 73.9 days (S) (p = 0.002), as was gestational age at dislocation (17 (H) vs. 25 (S) weeks, p < 0.001). Renal function was normal in early childhood in 51% (S) vs. 29% (H) (p = 0.11). (4) Conclusions: VAS before 17 + 0 weeks gestational age with a Somatex shunt improves perinatal survival significantly and might even have a positive effect on renal function, probably due to the lower dislocation rates. A normal amount of amniotic fluid in the third trimester was the best predictor of normal renal function in early childhood.

Background: Assessment of pulmonary hypertension (PH) is essential in neonates with congenital diaphragmatic hernia (CDH). Echocardiography is widely established to quantify PH severity, but currently used parameters have inherent limitations. The aim of our study was to investigate the prognostic utility of the index of the pulmonary artery acceleration time to the right ventricular ejection time (PAAT:ET) in CDH neonates assessed using echocardiography. Methods: PAAT:ET values were prospectively measured in CDH neonates on admission, on day of life (DOL) 2 and DOL 5–7. Optimal cut-off values to predict mortality and need for ECMO were calculated and PAAT:ET values were compared between non-ECMO survivors, ECMO-survivors, and ECMO-non-survivors. Results: 87 CDH neonates were enrolled and 39 patients required ECMO therapy. At baseline, PAAT:ET values were significantly lower in ECMO patients compared to non-ECMO patients (p < 0.001). ECMO survivors and ECMO non-survivors had similar values at baseline (p = 0.967) and DOL 2 (p = 0.124) but significantly higher values at DOL 5–7 (p = 0.003). Optimal PAAT:ET cut-off for predicting ECMO was 0.290 at baseline and 0.310 for predicting non-survival in patients on ECMO at DOL 5–7. Conclusion: PAAT:ET is a feasible parameter for early risk assessment in CDH neonates.

Wolf-Hirschhorn syndrome (WHS) is a common genetic condition and prenatal diagnosis is difficult due to heterogeneous expression of this syndrome and rather non-specific ultrasound findings. Objective of this study was to examine the prenatal ultrasound findings in fetuses with Wolf-Hirschhorn syndrome (WHS).Retrospective assessment of 18 pregnancies that were seen at three tertiary referral centers (Universities of Bonn, Tuebingen and Nuernberg / Germany). Findings of prenatal ultrasound examinations, genetic results and outcome were compared. Additionally, findings of our study were compared to previous small case series from the literature and then compared to data on postnatal frequencies and abnormalities in affected patients.Median gestational age at the time of examination was 23 + 1 weeks' (range: 13 + 4 to 29 + 1 weeks') with female-to-male ratio of 2.5:1. Most frequent ultrasound findings were facial abnormalities, symmetric IUGR and microcephaly that presented in 94.4, 83.3 and 72.2% of cases, respectively. The combination of microcephaly and hypoplastic nasal bone was a particularly characteristic finding. Growth retardation presented in all fetuses 20 weeks, but not below. Other frequent abnormalities included cardiac anomalies in 50 and single umbilical artery (SUA) in 44.4% of fetuses.WHS should be considered in the presence of symmetric IUGR together with microcephaly, hypoplastic nasal bone and facial abnormalities on prenatal ultrasound. Genetic testing by chromosomal microarray analysis (CMA) is strongly recommended in this context.

The objective of this study was to identify possible implications and risk factors in monochorionic (MC) twin pregnancies having a bipartite placenta. Between 2014 and 2019 data on such pregnancies was prospectively collected and retrospectively analyzed. Monochorionicity was confirmed either by the presence of a T-sign, one chorion and two separate amnion cavities, or by histological examination postnatally. Bipartite placenta was diagnosed when two placenta lobes were identified with no placental connection between them. Risks of bipartite placenta in MCDA twins were evaluated by background data, prenatal and postnatal outcome. Five twin pregnancies were included in the study. 60 % (n = 3) were complicated by twin-twin-transfusion syndrome (TTTS), 20 % by selective intrauterine growth restriction (sIUGR) (n = 1) and 20 % (n = 1) by severe fetal malformations. In every case an intervention was indicated, but in only 60% (n = 3) possible, due to poor surgical conditions. Overall fetal survival rate at birth was 90 %. Neonatal survival rate was 66.63%. Bipartite placenta is a very rare phenomenon in MCDA twin pregnancies. It seems to be associated with a higher rate of complications, such as TTTS and sIUGR and might induce surgical difficulties in prenatal interventions.

Objective: To assess the intrauterine course and outcome of fetal cardiac intervention (FCI) in fetuses with critical aortic stenosis (CAS), severe mitral regurgitation (MR), severe left atrial dilatation (LAD), and restrictive foramen ovale (RFO) or intact atrial septum. Methods: All fetuses with a prenatal diagnosis of CAS, severe MR, severe LAD, and RFO were retrospectively collected in one tertiary center for fetal medicine over a period of 10 years. Video recordings, pre- and postnatal charts were reviewed for cardiac and extracardiac anomalies, intrauterine course, and postnatal outcome. Results: Nineteen fetuses with CAS, severe MR, severe LAD, and RFO were diagnosed in the study period. In 5 cases, FCI was not considered as the parents either opted for expectative management or for termination. In the remaining 14 fetuses, 21 FCI were performed: 14 balloon valvuloplasties, 2 atrioseptostomies, and 5 fetal atrial stent insertions. Seven of 14 fetuses (50%) had fetal hydrops, 5 of 14 fetuses (36%) presented with intact atrial septum. Procedure-related death occurred in 5 fetuses after aortic valvuloplasty or concomitant atrioseptostomy but in none after fetal atrial stenting. Due to progressive hydrops, two terminations of pregnancy were performed. Among the 7 live births, 3 died in the neonatal period. The remaining 4 received single ventricle palliation, 2 following fetal aortic valvuloplasty and 2 after fetal atrial stent insertion. Conclusions: CAS with severe MR, severe LAD, and RFO has a high overall mortality even in cases undergoing intrauterine intervention. Parameters that accurately predict the intrauterine and postnatal outcome have yet to be defined.

Purpose: To assess the intrauterine course, the outcome, and to establish a new prenatal echocardiographic scoring system to predict biventricular (BV) versus univentricular (UV) outcome of fetuses with severe pulmonary stenosis or atresia with intact ventricular septum (PSAIVS). Methods: All cases of PSAIVS diagnosed prenatally over a period of 14years were retrospectively collected in 2 tertiary referral centers. Results: Forty-nine fetuses with PSIVS (n = 11) or PAIVS (n = 38) were identified prenatally. Nineteen (38.8%) fetuses had additional ventriculocoronary connections (VCCs) and 21 (42.9%) fetuses had right ventricular hypoplasia. Four (8.2%) pregnancies were terminated, 2 (4.1%) ended in intrauterine fetal death, 4 (8.2%) in neonatal death, and 5 (10.2%) children died in infancy or childhood, including one case with compassionate care. Thirty-four of 44 (77.3%) fetuses with the intention-to-treat were alive at latest follow-up, 25 (73.5%) with BV, and 9 (26.5%) with UV circulation. Most significant predictive markers of UV circulation were Vmax of tricuspid regurgitation (TR) Conclusion: The prognosis of prenatally diagnosed PSAIVS is good if BV circulation can be achieved, while postnatal mortality in UV circulation is high within the first 4 months of life. Postnatal outcome can be predicted prenatally with high accuracy using a simple scoring system. This information is mandatory for parental counseling and may be useful in selecting fetuses for intrauterine valvuloplasty.

Objective The purpose of this study was to explore the outcome in fetuses with prenatal diagnosis of absent pulmonary valve syndrome (APVS) on ultrasound imaging. Methods A manual web scraping technique was utilized, where MEDLINE and EMBASE were searched along the combination with other relevant medical subject headings such as “absent pulmonary valve syndrome”, “prenatal APVS” and “APVS/outcome”. The observed outcomes encompassed the rate of chromosomal abnormalities, associations and malformations linked to APVS and fetuses with APVS. A quality assessment of the included studies was also performed. We used meta-analyses of proportions to combine data and fixed or random-effects models according to the heterogeneity of the results. Results Seven studies including 199 fetuses with APVS were included in the analysis. The median gestational age at referral to the tertiary center was 24.8 weeks. An association to tetralogy of Fallot (TOF) could be seen in 84.4% of all cases. In total 140 out of 199 cases underwent invasive testing, with a total number of 55 abnormal karyotypes [39.3% (95% CI 31.1–47.9%)]. 35.2% of the patients opted for termination of pregnancy (95% CI 28.5–42.3%). Conclusion The analysis underlines the distribution of fetuses with APVS, with 84.4% of cases presenting with TOF/APVS and only 12.6% having APVS/intact ventricular septum (IVS). Larger and more prospective study analyses is now needed, especially focusing on long-term follow-up periods of fetuses and children with APVS. Particularly as the postnatal course shows great variety depending on prenatal diagnosis.

Die Mortalität von Patienten mit isoliert auftretenden angeborenen Zwerchfellhernien liegt in spezialisierten Zentren bei 20-40%. Wesentliche, das Outcome beeinflussende Faktoren, sind die bestehende Lungenhypoplasie, eine daraus resultierende pulmonale Hypertonie, sowie das Vorliegen weiterer Fehlbildungen. Begleitfehlbildungen wie angeborene Herzfehler treten bei ca. 18% aller Neonaten mit Zwerchfellhernie auf. Schwere angeborene Herzfehler wie das hypoplastische Linksherz Syndrom zeigen sich in ca. 8% der Fälle. In einer retrospektiven Analyse des Patientenkollektivs unserer Klinik zwischen 01/2012 und 12/2018 wurde das prä- und postnatale Management, sowie das Outcome von Neugeborenen mit der Kombination aus angeborenen Herzfehlern und Zwerchfellhernien untersucht. Im Studienzeitraum wurden in unserer Klinik 156 Neugeborene mit Zwerchfellhernie behandelt. Bei 10 Patienten (6,4%) lag zusätzlich ein schwerer, bei 11 Patienten (7,1%) ein moderater Herzfehler vor. 6/21 Patienten verstarben im Verlauf des Krankenhausaufenthaltes, davon 3 am ersten Lebenstag. Es zeigte sich eine deutlich geringere Mortalität bei Patienten mit Zwerchfellhernie und moderatem Herzfehler im Vergleich zu schwerem Herzfehler (9 vs. 50%). Besonders hoch lag die Mortalität bei Kindern mit einem univentrikulären Herzen. Trotz einer deutlich reduzierten Prognose bei der Kombination aus angeborenem Herzfehler und Zwerchfellhernie muss nicht generell mit einer infausten Prognose gerechnet werden. In spezialisierten Zentren kann ein kurativer Ansatz erfolgen.The mortality of patients with isolated congenital diaphragmatic hernia (CDH) in specialized centers is 20-40%. The main factors influencing the outcome are the underlying pulmonary hypoplasia, the resulting pulmonary hypertension and the presence of other malformations. Concomitant malformations such as congenital heart defects occur in around 18% of all neonates with a diaphragmatic hernia. Serious congenital heart defects such as hypoplastic left heart syndrome occur in approximately 8% of cases. In a retrospective analysis of the patient collective of our hospital between 01/2012 and 12/2018, the prenatal and postnatal management as well as the outcome of newborns with a combination of congenital heart defects and diaphragmatic hernias were examined. During the study period, 156 newborns with diaphragmatic hernias were treated at our institution. In 10 patients (6.4%) there was also a severe, and in 11 patients (7.1%) a moderate heart defect. 6/21 patients died during their hospital stay, 3 of them on the first day of life. There was a significantly lower mortality in patients with diaphragmatic hernia and moderate heart defects compared to severe heart defects (9 vs. 50%). The mortality in children with a univentricular heart was particularly high. Despite a significantly reduced prognosis for the combination of congenital heart defects and diaphragmatic hernia, generally a poor prognosis does not have to be expected. A curative approach can be achieved in specialized centers.

Objective: To assess the course and outcome of fetal aortic valvuloplasty (FAV) in fetuses with severe aortic stenosis (SAS) in a single center. Methods: All fetuses with a prenatal diagnosis of SAS with subsequent FAV were retrospectively collected in one tertiary center for fetal medicine over a period of 10 years. In the study, period fetuses with SAS were considered suitable for FAV in the presence of markedly elevated left ventricular pressures (maximum velocity of mitral regurgitation (MR Vmax) >250 cm/s and/or maximum velocity of aortic stenosis (AS Vmax) >250 cm/s), retrograde flow in the transverse aortic arch and a left ventricular length Z-score >−1. Results: In the study period 29 fetuses with AS were treated with 38 FAV. If reinterventions are included 82.7% of fetuses received a technically successful FAV. Procedure related death occurred in three (10.3%) cases, spontaneous fetal death in 2 (6.9%), and termination of pregnancy was performed in 3 cases (10.3%). Among the 21 live births (72.4%), four died in infancy. Among the remaining survivors, 8/17 (47.1%) had a biventricular outcome at the age of one year, 8/17 (47.1%) were univentricular and one infant (5.9%) is biventricular at the age of eight months. Fetuses with biventricular outcome had significantly greater left ventricular (LV) length Z-scores (p = 0.031), and lower tricuspid to mitral valve (TV/MV) ratios (p = 0.003). Conclusions: FAV has a high technical success rate and a low rate of procedure related mortality if performed in experienced hands. The success rate of biventricular circulation at the age of one year is moderate and seems to depend rather on the center’s experience and postnatal surgical strategies than solely on prenatal selection criteria. In the absence of randomized controlled trials, FAV remains an experimental intervention.

Scimitar syndrome is a rare disease characterized by hypoplasia of the right lung and partial anomalous pulmonary venous drainage to the inferior vena cava. All cases with a prenatal diagnosis of scimitar syndrome with or without associated malformations in an 18-year period (2000–2018) in two large tertiary referral centers (University of Bonn and University of Cologne, Germany) were retrospectively reviewed for the intrauterine course and postnatal outcome. Six cases were diagnosed in the study period. All presented with hypoplasia of the right lung, right-sided mediastinal shift, and abnormal pulmonary venous drainage to the inferior vena cava. Systemic arterial blood supply to the right lung, albeit postnatally present in all cases, could not be detected prenatally. Major associated anomalies were present in all cases and included atrial septal defect (n = 5), coarctation (n = 3), diaphragmatic hernia (n = 2), and VACTERL association (n = 1). Half of the cohort died within 6 months after birth and all three survivors suffer from long-term pulmonary sequelae. The primary hint to the prenatal diagnosis of scimitar syndrome is the abnormal position of the heart in the chest. If searched for, abnormal venous drainage can be identified prenatally and confirms the diagnosis. The prognosis depends on the presence of associated major anomalies and the need for neonatal intervention.

Objectives: To review the outcome of complicated monochorionic pregnancies after fetoscopic selective feticide with bipolar cord coagulation in an experienced German center. Methods: All cases that underwent selective feticide using fetoscopic bipolar umbilical cord occlusion (and simultaneous dissection in monoamniotics) at the University of Bonn in the past 10 years were retrospectively analyzed for antenatal and neonatal course and outcome. An adverse outcome was defined as either intrauterine death (IUD), neonatal death (NND), preterm prelabour rupture of membranes (PPROM), or preterm delivery (PTD) before 32.0 weeks of gestation. Results: We diagnosed 56 monochorionic pregnancies, including 43 diamniotic and 8 monoamniotic twins, as well as 5 triplets, complicated by discordant fetal anomalies (n = 10), selective intrauterine growth restriction (n = 29), twin-to-twin transfusion syndrome (n = 13), twin reversed arterial perfusion sequence (n = 3), or severe early twin anemia polycythemia sequence (n = 1), that underwent fetoscopic selective feticide in the 10 years study period. Selective feticide was performed by bipolar cord coagulation at a median gestational age of 21.2 weeks. PPROM occurred in 11 cases, 7 (12.5%) before 32.0 weeks and 4 (7.1%) between 34.0 and 36.0 weeks, respectively. There were five (8.9%) co-twins IUDs at a median of 2 weeks after the intervention. We observed 12 (21.4%) PTDs before 32.0 weeks of gestation and 2 (3.6%) NNDs. Mean gestational age at delivery was 37.1 weeks, with an overall survival of the co-twin of 87.5%. Conclusion: In experienced hands, fetoscopic selective feticide is an effective treatment in complicated monochorionic pregnancies. By sacrificing a sick fetus that jeopardizes the entire pregnancy, a higher survival rate of the co-twin can be achieved.