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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.

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.

(1) Background: Severe fetal hydrothorax can be treated by intrauterine thoracoamniotic shunting (TAS). The aim of this study was to assess perinatal outcome and complication rates of TAS with a novel Somatex intrauterine shunt. (2) Methods: This is a single-center retrospective study of all fetuses with hydrothorax treated with TAS using a Somatex shunt between 2014 and 2020. (3) Results: A total of 39 fetuses were included in the study. Mean gestational age at first intervention was 27.4 weeks (range 19-33). Of these, 51% (n = 20) of fetuses had fetal hydrops, which resolved in 65% (13/20) before delivery. The live birth rate was 97% (n = 38), and 74% (n = 29) survived the neonatal period. The rate of postnatal pulmonary complications was high, with 88% of neonates requiring any kind of ventilatory support. There were 23% (n = 9) genetic abnormalities (trisomy 21 and Noonan syndrome). (4) Conclusions: TAS with a Somatex shunt has a high technical success rate, leading to high neonatal survival rates. Pregnancy and neonatal outcome is comparable to TAS for fetal hydrothorax using different shunt types.

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.

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.

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.

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.

(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 (R) 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.

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) <2 m/s, right ventricle/left ventricle length ratio <= 0.6, and presence of VCC. A scoring system including these 3 markers had 100% sensitivity and 100% specificity predicting an UV outcome if more than one of these criteria was fulfilled. All 25 liveborn infants that were suitable for BV repair survived, whereas only 9 out of 14 candidates for UV repair survived. None of the 14 fetuses with predicted UV outcome would have met the inclusion criteria for fetal intervention, as 10 of them had VCC and the remaining 4 had absent TR or Vmax 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

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, associated conditions and postnatal outcome of fetuses with pulmonary atresia with ventricular septal defect (PAVSD). Methods All cases of PAVSD diagnosed prenatally over a period of 10 years with a minimum follow-up of 6.5 years were retrospectively collected in 3 tertiary referral centers. Results 50 cases of PAVSD were diagnosed prenatally. 44.0 % of fetuses had isolated PAVSD, 4.0 % had associated cardiac anomalies, 10.0 % had extra-cardiac anomalies, 38.0 % had chromosomal anomalies, 4.0 % had non-chromosomal syndromes. Among the 32 liveborn children, 56.3 % had reverse flow in the patent arterial duct, 25.0 % had major aortopulmonary collateral arteries (MAPCAs) with ductal agenesis and 18.7 % had a double supply. 17 pregnancies were terminated (34.0 %), there was 1 intrauterine fetal death (2.0 %), 1 neonatal death (2.0 %), and 6 deaths (12.0 %) in infancy. 25 of 30 (83.3 %) liveborn children with an intention to treat were alive at the latest follow-up. The mean follow-up among survivors was 10.0 years (range 6.5-15.1). 56.0 % of infants underwent staged repair, 44.0 % had one-stage complete repair. After exclusion of infants with additional chromosomal or syndromal anomalies, 88.9 % were healthy, and 11.1 % had mild limitations. The presence of MAPCAs did not differ significantly between survivors and non-survivors (p = 0.360), between one-stage or staged repair (p = 0.656) and healthy and impaired infants (p = 0.319). Conclusion The prognosis in cases without chromosomal or syndromal anomalies is good. MAPCAs did not influence prognosis or postoperative health. The incidence of repeat interventions due to recurrent stenoses is significantly higher after staged compared with single-stage repair.

Purpose The objective of this study was to identify possible implications and risk factors in monochorionic (MC) twin pregnancies having a bipartite placenta. Materials 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. Results 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%. Conclusion 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.

Purpose To assess the anatomic variants, associated anomalies and postnatal outcome of fetuses with a prenatally diagnosed agenesis of ductus venosus (ADV). Materials and Methods Retrospective study of 119 cases with agenesis of ductus venosus diagnosed by prenatal ultrasound in two tertiary referral centers from 2006 to 2014. The type and location of the umbilical venous drainage site was noted. Charts were reviewed for associated structural or chromosomal anomalies, pregnancy outcome and postnatal course. Results In 24 cases (20.2%) ADV was an isolated finding, while 95 cases (79.8%) had associated anomalies. We identified 84 cases (70.6%) with intrahepatic and 35 cases (29.4%) with extrahepatic drainage of the umbilical vein. 58.8% of neonates were alive at follow-up.There was no statistical association between drainage site and associated anomalies or outcome. Postnatal outcome was determined by the presence and severity of associated anomalies. There was no adverse outcome in the isolated group related to ADV. Overall, there were 6 persistent portosystemic shunts, 3 of them with a spontaneous closure, and one total agenesis of the portal venous system with lethal outcome. Conclusion Postnatal outcome in cases with ADV mainly depends on the presence of associated anomalies. In isolated cases the prognosis is generally good, but neonates with a prenatally diagnosed portosystemic shunt should be followed until its occlusion. Portal venous system agenesis is rare but should be ruled out on prenatal ultrasound.

Objective: To assess the spectrum of associated anomalies, the intrauterine course, postnatal outcome and management of fetuses with double outlet right ventricle (DORV). Methods: All cases of DORV diagnosed prenatally over a period of 8 years were retrospectively collected in a single tertiary referral center. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. Results: Forty-six cases of DORV were diagnosed prenatally. The mean gestational age at first diagnosis was 21 + 4 weeks (range, 13-37). A correct prenatal diagnosis of DORV was made in 96.3% of the cases. If the relation of the great arteries, the position of the ventricular septal defect (VSD) and additional cardiac anomalies are taken into account, the prenatal diagnosis was correct in 92.6% of the cases. One case was postnatally classified as transposition of the great arteries with subpulmonary VSD and was excluded from further analysis. A total of 41 (91.1%) fetuses with DORV had major additional cardiac anomalies, 30 (66.7%) had extracardiac anomalies and 13 (28.9%) had chromosomal or syndromal anomalies. Due to their complex additional anomalies, five (11.1%) of our 45 fetuses had multiple malformations and were highly suspicious for non-chromosomal genetic syndromes, although molecular diagnosis could not be provided. Disorders of laterality occurred in 10 (22.2%) fetuses. There were 17 terminations of pregnancy (37.8%), two (4.4%) intrauterine and seven (15.6%) postnatal deaths. Nineteen of 22 (86.4%) live-born children with an intention to treat were alive at last follow-up. The mean follow-up among survivors was 32 months (range, 2-72). Of 21 children who had already undergone postnatal surgery, eight (38.1%) achieved biventricular repair and 13 (61.9%) received univentricular palliation. One recently born child is still waiting for surgery. All children predicted prenatally to need a single ventricle palliation, and all

PurposeIsolated classic bladder exstrophy (CBE) is the most common variant of the bladder-exstrophy-epispadias complex (BEEC). The BEEC represents a spectrum ranging from isolated epispadias over CBE to the most severe form, cloacal exstrophy. We report on a series of 12 cases with CBE diagnosed prenatally and illustrate the spectrum of prenatal ultrasound findings with comparison to prior published reports on this entity.MethodsThis was a retrospective study involving 12 fetuses with CBE at two large tertiary referral centers in Germany over a 14-year period (2004-2018).ResultsMedian diagnosis was made with ultrasound in 24+5 (IQR(25,75): 21+2, 29+0) weeks of gestation. All fetuses presented with the pathognomonic findings non-visualization of the fetal bladder and protruding abdominal mass below the umbilical cord insertion. All fetuses showed normal kidney anatomy and normal amniotic fluid throughout pregnancy. Epispadia was visible prenatally on ultrasound in 6/8 male fetuses. 1/12 Parents opted for termination of pregnancy, 11/12 fetuses were live born and received reconstructive surgery.ConclusionsIsolated CBE is an extremely rare prenatal sonographic finding. Prenatal diagnostics should exclude additional malformations within the spectrum of cloacal malformations.

Background: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro) colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. Subjects and Methods: This was a retrospective study involving 20 fetuses with hydro(metro) colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017). Results: The median diagnosis was made at 30(+4) weeks of gestation, the earliest at 20(+6) weeks, the latest at 37(+2) weeks. All 20 fetuses presented with the typical cystic structure behind the fetal bladder. Additional malformations included urogenital malformations, hexadactyly, and heart defects. Postnatal fol-low-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fetuses, Mayer-Rokitansky-Kuster-Hauser syndrome in 3/20 fetuses, and Herlyn-Werner-Wunderlich syndrome in 1/20. In 1 fetus pressure from an intraabdominal teratoma resulted in prenatal hydro(metro) colpos. Conclusion: Hydro(metro) colpos is a rare prenatal sonographic feature. Multidisciplinary prenatal counseling should include all potential syndromes that can present with hydro(metro) colpos in the prenatal setting. (c) 2018 S. Karger AG, Basel

Background: Enterolithiasis is a sonographic sign defined by hyperechogenic foci within the - often distended - fetal bowel. Objectives: We report on a series of 20 cases with enterolithiasis diagnosed prenatally and illustrate the spectrum of associated malformations. Method: This was a retrospective study involving 20 fetuses with enterolithiasis at two large tertiary referral centers in Germany over a 17-year period (2000-2017). Results: Median diagnosis was made with ultrasound at 18+2 weeks of gestation (IQR(25,75): 14+5, 26+5). Additional malformations included urogenital malformations (cloacal malformation in 7/20 fetuses [35%] and kidney defects in 7/20 fetuses [35%]), cardiac malformations (3/20 fetuses [15%]), and vertebral malformations (5/20 fetuses [25%]). Of 20 fetuses, 14 could be attributed to the anorectal malformation spectrum, 3/20 fetuses presented with caudal regression syndrome, and 1 fetus with bilateral kidney agenesis, congenital diaphragmatic aplasia, and enterovesical fistula, respectively. Conclusion: Enterolithiasis is a rare prenatal sonographic feature. Because of the frequent occurrence of uro-recto-genital malformations, thorough prenatal counseling should be performed.

Objective: To assess the outcome of 12 fetuses with bronchopulmonary sequestration (BPS) and massive pleural effusion after intrafetal vascular laser ablation (VLA). Methods: All fetuses with BPS and massive pleural effusion that were treated with intrafetal VLA during a 5-year period (2012-2016) were reviewed for safety, intrauterine course, and postnatal outcome. Results: In the study period, 12 fetuses with BPS were treated with VLA. In 7 (58.3%) fetuses, complete cessation of blood flow was achieved after the first VLA, while in 5 (41.7%) fetuses, residual perfusion of the feeding vessel was demonstrated at follow-up. A second intervention was successful in 4 of 5 (80%) fetuses. Overall, in 11 of 12 (91.7%) fetuses, complete coagulation of the feeding vessel could be achieved, followed by a reduction in size or complete resolution of the BPS. All 11 fetuses with successful prenatal intervention were live-born at a median gestational age of 39(+1) (range, 37(+5)-41(+2)) weeks. Postnatally, 2 (18.2%) of the 11 newborns underwent sequestrectomy, as well as the preterm newborn on which a second fetal intervention was not feasible. Conclusion: VLA is an effective and safe treatment of BPS that appears to be of benefit in improving prognosis and decreasing the need for postnatal sequestrectomy. (C) 2017 S. Karger AG, Basel

Objective: To describe procedure-related complications and perinatal survival after intrauterine transfusion (IUT) before 20 weeks of gestation in fetuses with severe anemia due to human parvovirus B19 infection. Materials and Methods: A retrospective study was conducted of all fetuses requiring IUT before 20 weeks of gestation in two tertiary referral centers between January 2002 and July 2015. Gestational age (GA) at first IUT, fetal blood sampling results, and presence of hydrops were related to procedure-related complications, fetal death (FD), and perinatal outcome. Results: A total of 93 IUTs was performed on 55 fetuses. The mean GA at first IUT was 16(+6) (13(+0)-19(+6)) weeks. FD occurred in 11 (20.0%) of the 55 fetuses. Overall survival was 80.0% (44/55). Hydrops was present in 38.2% (21/55) and was strongly associated with FD (p = 0.001). There was no difference with regard to FD, hydrops, or hemoglobin concentration at first IUT in fetuses with transfusion before or after 16(+0) weeks. Conclusion: Severe anemia due to parvovirus B19 infection in the early second trimester can be treated successfully by IUT before 20 weeks of gestation in specialized centers with sufficient expertise. (C) 2017 S. Karger AG, Basel

PurposeTo analyze fetal cerebral malformations with late termination of pregnancy (TOP) and to evaluate the rate of cases that could have been detected earlier using international recommended requirements of sonographic examination of the fetal central nervous system (CNS).Materials and methodsCases of singleton pregnancies above 18+0weeks of gestation ending in late TOP due to fetal CNS malformations between 2002 and 2011 were retrospectively reviewed. The cases were divided into isolated and non-isolated cerebral malformations. Prevalence and timing of TOP were assessed relative to the identified malformations.ResultsDuring this 10-year period, 212 (20.8%) out of 1017 late TOPs were performed in pregnancies with fetal cerebral malformations. 59 cases were excluded because of chromosomal anomalies. 86 (56.2%) of the remaining 153 cases were isolated cerebral malformations while 67 (43.8%) were non-isolated. TOP after viability (24+0weeks of gestation) was performed in 61.4% (94/153). Substantial morbidity (n=80; 52.3%) and mental retardation (n=33, 38.4%) made up the leading prognostic groups. In about 80% of detectable anomalies, diagnosis of CNS malformation could have been made earlier by following international guidelines of fetal CNS examination at second trimester scan.ConclusionGeneral implementation of ultrasound screening in maternity care can significantly reduce the number of late TOPs in Germany.

Objective: To assess predictors for survival and complications among a relatively large cohort of fetuses with hydro thorax treated by thoracoamniotic shunting. Methods: All cases with hydrothorax treated by thoracoamniotic shunting in a 10-year period (2002-2011) in two centers were retrospectively reviewed. Results: A total of 78 fetuses with hydrothorax treated with thoracoamniotic shunting were included in the study. Mean gestational age at diagnosis was 25.6 weeks (12-34 weeks). Initial thoracoamniotic shunting was performed at a mean gestational age of 26.5 weeks (16-33 weeks). A mean of 2.53 shunts (1-7) were inserted per fetus. Of the 78 fetuses, 9 (11.5%) died in utero, 69 (88.5%) were born alive and 46 (59%) survived. Prognostic markers significantly associated with nonsurvival were polyhydramnios, hydrops placentae and mediastinal shift at initial scan, onset of hydrops after first shunt placement, rupture of membranes, a shunt-birth interval <4 weeks and low gestational age at birth. In our cohort, fetuses with trisomy 21 had a significantly better survival than euploid fetuses. Conclusions: Although associated with a significant rate of repeated interventions, thoracoamniotic shunting in fetuses with severe hydrothorax results in an overall survival rate of 59%. Fetuses with hydrothorax and trisomy 21 have a better survival when compared to euploid fetuses. (C) 2016 S. Karger AG, Basel

Purpose The rare finding of a levoatrial cardinal vein (LACV) represents a pulmonary-systemic connection providing an alternative egress from the left atrium for pulmonary venous blood in fetal cardiac malformations with severe left heart obstruction and intact atrial septum(IAS). The purpose of the study was the description of the various sonographic and Doppler findings, the peripartal management and neonatal outcome of this rare cardiovascular anomaly. Materials and Methods Retrospective review of 53 967 echocardiograms in our fetal database between 2002 and 2013 for cases with an LACV. The various sonographic findings of the LACV, the associated cardiac findings and the perinatal management were assessed. Results The presence of a decompressing LACV was documented in 5/27 (18.5 %) of all fetuses with hypoplastic left heart syndrome and intact atrial septum. All five fetuses were diagnosed with an LACV originating from the left atrium and draining either into the innominate vein (two cases), the azygos vein (one case), or directly into the vena cava superior (two cases). Elevated pressure in the pulmonary veins was present in the three cases with obstruction of the LACV. Two pregnancies were terminated, two neonates received compassionate care and one neonate died despite atrioseptectomy. Conclusion LACV in the presence of HLHS and IAS is a rare condition with various forms of pathway and degree of obstruction and generally has an unfavorable prognosis. The presence of obstruction can be diagnosed by spectral Doppler of the LACV. Therefore, in cases of HLHS and IAS, careful sonographic evaluation for aberrant vessels is mandatory.

Purpose To assess the spectrum of associated anomalies, the intrauterine course, the outcome and possible prognostic markers in prenatally diagnosed Ebstein's anomaly (EA). Materials and Methods All cases of EA diagnosed over a period of 13 years with a minimum follow-up of 1 year were retrospectively collected in 4 tertiary referral centers in Germany. Results In the study period 76 cases of EA were prenatally diagnosed. The mean gestational age at diagnosis was 25.0 weeks (range: 13 -35). 41 (53.9 %) cases were isolated and 35 (46.1 %) had other cardiac and/or extracardiac anomalies. 19 (25.0 %) pregnant women opted for termination of pregnancy, intrauterine fetal death occurred in 7 cases (9.2 %), neonatal death in 14 cases (18.4 %), death in infancy or childhood in 9 cases (11.8 %) and 27 children (35.5 %) were alive at the last follow-up. After exclusion of terminations, the only parameter inversely correlated with intrauterine survival was hydrops fetalis. Prognostic parameters significantly associated with postnatal non-survival were an abnormal Celermajer index (right atrium/heart ratio > 0.7), cardiomegaly (cardiothoracic circumference ratio > 0.5), absence of antegrade flow over the pulmonary valve and earlier diagnosis in pregnancy. Conclusion Prenatally diagnosed EA has a high morbidity and mortality with the highest loss rate in the intrauterine and neonatal period. In our study, hydrops fetalis was the only parameter significantly associated with intrauterine demise, while other prenatal markers were only significantly associated with postnatal mortality.

Purpose To establish the prevalence of chromosomal aberrations in fetuses with an apparently isolated agenesis of the corpus callosum (ACC) on prenatal ultrasound. Materials & Methods This was a retrospective study of complete isolated ACC at the time of ultrasound evaluation with respect to karyotype information. Within this group, a subgroup with non-malformation minor abnormalities, such as a single umbilical artery (SUA), polyhydramnios or fetal growth restriction (FGR), was investigated. Results Complete ACC was diagnosed in 343 cases. Of them, 143 (41.6 %) were isolated, with 16 fetuses showing additional minor findings. In 76.2 % (109/143) karyotyping was performed. Additional array CGH analysis was performed in 7.7 % (11/143). Chromosomal aberrations were found in 4.6 % (5/109) overall, in 3.1 % (3/98) of those without any additional sonographic findings (all represented mosaic trisomy 8) and in 18.2 % (2/11) of those with minor abnormalities. The prevalence of pathogenic submicroscopic copy number variant (CNV) was 9 % (1/11). Conclusion Fetal karyotyping is recommended in ACC, as trisomy 8 mosaicism should be considered despite otherwise unremarkable ultrasound. The role of novel techniques such as array CGH and its implication has to be explored in prospective studies.