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Introduction: Parental counselling after antenatal diagnosis of a congenital heart defect requires a high degree of professional and emotional competence and ultimately a sense of responsibility on the part of the consulting physicians. However, little is known about parents` perceptions and evaluation of these consultations. Material/Methods: Survey on 425 women who received interdisciplinary counselling after antenatal diagnosis of a complex fetal congenital heart defect in a specialized prenatal outpatient clinic with an affiliated paediatric heart centre. Two questionnaires were used to retrospectively evaluate the parental perception and impact on counselling, particularly on decision-making. Questionnaires differed between women conceiving the child and women who terminated the pregnancy. Results: 400 women continued, 25 women terminated the pregnancy after diagnosis and counselling. Good quality of life was reported for 68% of the children, 15% died postnatally in the further course. 95% rated the counselling as good or very good regardless of the child´s outcome. 73% described the counselling as highly important for their subsequent decision. The possibility of termination of pregnancy was discussed with 37% of the respondents, 22% of them found it outrageous or very distressing. Of all respondents, one woman would have made a different decision regarding continuation of the pregnancy in retrospect. Conclusion: Retrospectively, parents rate prenatal counselling extremely positively, irrespective of the severity of the child´s heart defect. It can be assumed that the consistent joint interdisciplinary consultation and the high reputation of the cooperating heart centre have had an influence on the below-average rate of termination of pregnancy.

Objectives To analyse prenatal parameters predicting biventricular (BV) outcome in pulmonary atresia with intact ventricular septum/critical pulmonary stenosis (PAIVS/CPS). Methods We evaluated 82 foetuses from 01/08 to 10/18 in 3 centres in intervals 1 ( 30 weeks). Results 61/82 (74.4%) were livebirths, 5 (8.2%) lost for follow-up, 3 (4.9%) had compassionate care leaving 53 (64.6% of the whole cohort and 86.9% of livebirths) with intention to treat. 9 died, 44/53 (83.0%) survived. 24/38 (63.2%) with information on postnatal outcome had BV outcome, 14 (36.8%) non-BV outcome (2 × 1.5 circulation). One with BV outcome had prenatal valvuloplasty. Best single parameter for BV outcome was tricuspid/mitral valve (TV/MV) ratio (AUC 0.93) in intervals 2 and 3 (AUC 0.92). Ventriculo-coronary-arterial communications (VCAC) were present in 11 (78.6%) in non-BV outcome group vs. 2 (8.3%) in BV outcome group (p 2.5 m/s was present in BV outcome group in75.0% (18/24) vs. 14.3% (2/14) in non-BV outcome group. Including the most predictive markers (VCAC presence, TI- Vmax 1 criterion was fulfilled in all cases. After recently published criteria for foetal intervention, only 4/9 (44.4%) and 5/14 (35.7%) in our interval 2 + 3 with predicted non-BV outcome would have been candidates for intervention. Two (1 × intrauterine intervention) in interval 2, two in interval 3 reached BV outcome and one 1.5 circulation without intervention. Conclusion TV/MV ratio as simple parameter has high predictive value. After our score, non-BV outcome was correctly predicted in all cases. Criteria for foetal intervention must further be evaluated.

Objective To analyze the spectrum of prenatally diagnosed absent pulmonary valve syndrome (APVS) and the outcome from diagnosis onwards. Fetuses with APVS and tetralogy of Fallot (TOF/APVS) and with APVS and intact ventricular septum (APVS/IVS) were included. Method Multicenter retrospective study of the International Prenatal Cardiology Collaboration Group (IPCCG). Clinical and echocardiographic databases of nine referral centers were reviewed from 2012-2016. Results The cohort included 71 cases, 59 with TOF/APVS and 12 with APVS/IVS. In 18.3% of cases diagnosis was achieved within first trimester. Association with hydrops fetalis was high within first trimester (69%). No fetus with known outcome survived after first trimester diagnosis. Karyotype anomalies occurred in 45% of cases with known karyotype. Intrauterine fetal demise occurred in 14.3%. Overall survival after initial diagnosis in the total cohort was 28.1% (28.8% TOF/APVS, 25.0% APVS/IVS). Survival to birth was 50% in TOF/APVS and 44.4% in APVS/IVS. Survival of subjects born alive beyond neonatal period was 84.6% in TOF/APVS and 100% in APVS/IVS. Conclusion Diagnosis of APVS is feasible within first trimester. Outcomes remain guarded, especially if first trimester diagnosis is included into the analysis due to associated karyotypic anomalies, the presence of hydrops fetalis and patent Ductus arteriosus (DA).

To assess the intrauterine course, associated conditions and postnatal outcome of fetuses with pulmonary atresia with ventricular septal defect (PAVSD). 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. 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). 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.ZIEL: Beurteilung des intrauterinen Verlaufs, assoziierter Anomalien und des postnatalen Outcomes von Feten mit Pulmonalatresie mit Ventrikelseptumdefekt (PAVSD). Retrospektive Auswertung aller über einen Zeitraum von 10 Jahren in den Universitätsfrauenkliniken Köln und Bonn sowie bei pränatal.de diagnostizierten Feten mit PAVSD und einem postnatalen Follow-Up von mindestens 6,5 Jahren. 50 PAVSD wurden pränatal diagnostiziert. 44,0 % der Feten hatten isolierte PAVSD, 4,0 % assoziierte kardiale und 10,0 % extrakardiale Anomalien, 38,0 % hatten chromosomale Anomalien, 4,0 % nicht chromosomale Syndrome. Von den 32 Lebendgeborenen hatten 56,3 % der Kinder einen reversen Fluss über einen offenen Ductus arteriosus, 25,0 % hatten major aortopulmonale Kollateralarterien (MAPCAs) mit Ductusagenesie und 18,7 % hatten einen double supply. 17 (34 %) Schwangerschaften wurden abgebrochen, 1 Fötus (2 %) verstarb intrauterin, 1 Kind (2 %) in der Neonatal-Zeit, 6 Kinder (12 %) im Säuglingsalter. 25 von 30 (83,3 %) Lebendgeborenen mit intention-to-treat lebten beim letzten Follow-Up. Das durchschnittliche Follow-Up unter den Überlebenden betrug 10,0 Jahre (range 6,5–15,1). 56 % der Kinder erhielten eine 2-zeitige Korrektur, 44 % wurden 1-zeitig operiert. Nach Ausschluss der Kinder mit chromosomalen oder syndromalen Anomalien waren 88,9 % der Kinder gesund, 11,1 % waren leicht beeinträchtigt. Die Inzidenz von MAPCAs unterschied sich nicht signifikant zwischen Verstorbenen und Überlebenden (p = 0,360), zwischen 1-zeitig und 2-zeitig operierten (p = 0,656) und zwischen gesunden und beeinträchtigten Kindern (p = 0,319). Die Prognose der PAVSD ohne assoziierte chromosomale oder syndromale Anomalien ist gut, die Mehrzahl der Kinder überlebt ohne Einschränkungen. MAPCAs beeinflussen weder die Prognose noch den postoperativen Gesundheitszustand. Lediglich die Inzidenz wiederholter Interventionen durch rekurrierende Stenosen war nach 2-zeitiger operativer Korrektur signifikant häufiger als nach 1-zeitiger Korrektur.

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.

Objective To assess the incidence and impact of extracardiac anomalies on the prognosis of fetuses with heterotaxy syndrome. Methods All fetuses diagnosed with heterotaxy syndrome by three experienced examiners over a period of 14 years (1999-2013) were reviewed retrospectively. Results In total, 165 fetuses with heterotaxy syndrome were diagnosed in the study period. One hundred and fifty (90.9%) had cardiac defects; extracardiac anomalies that did not involve the spleen were present in 26/165 (15.8%) cases. Of the total study cohort, termination of pregnancy was performed in 49 (29.7%) cases, intrauterine death occurred in 11 (6.7%), postnatal death occurred in 38 (23.0%) and 67 (40.6%) were alive at the latest follow-up, resulting in a total perinatal and pediatric mortality of 59.4%. Among the 105 liveborn neonates, 15 (14.3%) had extracardiac anomalies with significant impact on the postnatal course: one neonate died following repair of an encephalocele, six had successful treatment for various types of intestinal malrotation and/or atresia and one underwent hiatal hernia repair; the remaining seven had biliary atresia, of which five died and the two survivors are awaiting liver transplantation. The status of the spleen was assessed in 93/105 liveborn children and was found to be abnormal in 84/93 (90.3%). There were three cases of lethal sepsis, all associated with asplenia. Of the 38 postnatal deaths, 29 (76.3%) had a cardiac cause, seven (18.4%) had an extracardiac cause and in two (5.2%) the reason was uncertain. Conclusions Although the leading causes of death in fetuses and children with heterotaxy syndrome are cardiac, a small subset of fetuses have extracardiac anomalies with significant impact on outcome. These anomalies often escape prenatal detection, and therefore neonates at risk should be monitored for bowel obstruction, biliary atresia and immune dysfunction in order to allow timely intervention through a multidisciplinary approach. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Purpose The purpose of this study was to assess the cardiac axis in fetuses with conotruncal anomalies during four-chamber view scanning. Materials and Methods We retrospectively evaluated the cardiac axis of 150 fetuses with conotruncal anomalies within the second and third trimester between October 2008 and August 2014. The cardiac axis was obtained by the angle of two lines in a transverse view of the fetal thorax at the level of the four-chamber view. The first line divided the thorax into two equal halves starting from the spine posteriorly ending at the sternum. The second line was placed through the interventricular septum of the fetal heart. The angle was calculated using OsiriX software. Results 23 had double outlet right ventricle (DORV), 17 had truncus arteriosus communis (TAC), 36 had tetralogy of Fallot (TOF), and 74 had complete transposition of the great arteries (d-TGA). In fetuses with DORV ≤ 24 + 6 weeks of gestation (wks), the mean cardiac axis was 52.5° (p = 0.005), at ≥ 25 + 0 wks it was 51.1° (p = 0.0003). In fetuses with TAC ≤ 24 + 6 wks, the mean cardiac axis was 56.8° (p = 0.01), at ≥ 25 + 0 wks it was 50.0° (p = 0.05). In fetuses with TOF ≤ 24 + 6 wks, the mean cardiac axis was 67.5° (p Conclusion In fetuses with DORV, TAC and TOF, the cardiac axis is significantly different from the normal axis, but in fetuses with TGA there is no significant difference compared to the normal axis. Therefore, analysis of the heart axis could be useful for screening for conotruncal anomalies.

The objective of this study was to analyze the spectrum of prenatally diagnosed absent pulmonary valve syndrome (APVS) and the outcome from diagnosis onwards. Fetuses with APVS and tetralogy of Fallot (TOF/APVS) and with APVS and intact ventricular septum (APVS/IVS) were included.Multicenter retrospective study of the International Prenatal Cardiology Collaboration Group. Clinical and echocardiographic databases of nine referral centers were reviewed from 2012-2016.The cohort included 71 cases, 59 with TOF/APVS and 12 with APVS/IVS. In 18.3% of cases, diagnosis was achieved within first trimester. Association with hydrops fetalis was high within first trimester (69%). No fetus with known outcome survived after first trimester diagnosis. Karyotype anomalies occurred in 45% of cases with known karyotype. Intrauterine fetal demise occurred in 14.3%. Overall survival after initial diagnosis in the total cohort was 28.1% (28.8% TOF/APVS and 25.0% APVS/IVS). Survival to birth was 50% in TOF/APVS and 44.4% in APVS/IVS. Survival of subjects born alive beyond neonatal period was 84.6% in TOF/APVS and 100% in APVS/IVS.Diagnosis of APVS is feasible within first trimester. Outcomes remain guarded, especially if first trimester diagnosis is included into the analysis because of associated karyotypic anomalies, the presence of hydrops fetalis, and patent ductus arteriosus. © 2017 John WileySons, Ltd.

Congenital diaphragmatic hernia is a malformation presenting with varying degrees of severity. An accurate prediction of outcome is crucial for parental counselling and therapeutic planning. In selected cases, foetal endoscopic tracheal occlusion (FETO) can improve foetal outcome. Timely referral to a highly specialised centre is important when the requirement for extracorporeal membrane oxygenation (ECMO) is expected.

Functionally univentricular hearts (UVHs) represent cardiac anomalies in which either the pulmonary or systemic circulation cannot be supported independently. The purpose of our study was to determine perinatal outcomes after prenatal diagnosis of functionally UVH.We retrospectively evaluated patients who presented between 2008 and June 2015 in our centre and in prenatal practice praenatal.de in Cologne. We included double inlet left ventricle (DILV), tricuspid valve atresia (TA), pulmonary valve atresia and intact ventricular septum (PA:IVS), unbalanced atrioventricular septal defect (AVSD), heterotaxy, hypoplastic left heart syndrome (HLHS) and hypoplastic left heart complex (HLHC).Of initially 155 patients, 128 were liveborn (82.6%). Ten neonates (7.8%) were lost to follow-up, in three (2.5%) neonates, parents decided for compassionate care. Overall survival after prenatal diagnosis of functionally UVH was 67.1%, and 90.4% on an intention-to-treat basis. Survival after surgery reached 93.7%. The majority of deaths occurred within the group of dominant RV (10/74, 13.5%). High risk HLHS with restrictive foramen ovale was associated with the lowest survival rate (13/17, 76.5%) with significant difference compared to survival rate in dominant LV (40/41, 97.6%, p 0.05).These results should be explained to parents to ensure informed decisions and counselling. © 2016 John WileySons, Ltd.

The etiology of gastroschisis remains elusive. A classic twin study was used to assess the relative contribution of environmental and genetic factors in its development. Screening of 4872 twin pregnancies identified three unreported twin pairs comprising two monozygous and one dizygous discordant pair of twins. Review of the literature identified an additional 21 twin pairs. We observed lower pair- and proband-wise concordance rates for monozygotic compared to dizygotic twin pairs, pair- and proband-wise concordance ratios below 1.0. Our results suggest environmental to play a greater role than genetic factors in the development of gastroschisis.

Purpose: Preferential left heart underdevelopment in human fetuses with diaphragmatic hernia is almost uniformly associated with preferential streaming of the ductus venosus toward the right side of the heart. The purpose of our study was to examine whether this flow anomaly might also be present in other fetuses with hypoplasia of left-sided cardiovascular structures. Materials and Methods: We studied 32 fetuses with left heart hypoplasia as defined by gestational age-related Z-scores by echocardiography. Apart from defining cardiovascular morphology as detailed as possible, particular focus was put on the presence or absence of preferential streaming of the ductus venosus and inferior caval vein toward the right side of the heart. Results: 8 of 32 fetuses with hypoplasia of one or more left-sided cardiovascular structures exhibited preferential streaming of the ductus venosus toward the right side of the heart. In all eight fetuses, this finding was associated with additional cardiovascular anomalies like aortic valve stenosis, ventricular septal defect, left superior caval vein-to-coronary sinus, pulmonary vein stenosis and/or aortic arch hypoplasia. Conclusion: As in human fetuses with left diaphragmatic hernia, preferential ductus venosus streaming toward the right side of the heart can be found in a subgroup of fetuses with hypoplasia of left-sided cardiovascular structures.

PURPOSE Predominant left heart hypoplasia is commonly observed in human fetuses with left diaphragmatic hernia and intrathoracic liver herniation ("liver-up"). In contrast, marked left/right heart disproportion has not been described in fetuses with right diaphragmatic hernia, despite intrathoracic herniation of large parts of the liver. PATIENTS AND METHODS We analyzed the data of 15 fetuses with left diaphragmatic hernia and 10 fetuses with right diaphragmatic hernia and all with intrathoracic liver herniation ("liver-up") that were examined with fetal echocardiography between 21 weeks + 1 day and 35 weeks + 0 days of gestation. The inflow and outflow dimensions and Z-scores of the two groups were statistically compared. In addition, ductus venosus streaming patterns were examined. RESULTS Despite the presence of intrathoracic liver herniation, predominant left heart hypoplasia, defined as a mitral valve Z-score < - 2 in combination with a tricuspid valve Z-score that was at least 2 Z larger than the mitral valve Z-score in an individual fetus, was observed in 11 of the 15 fetuses with left diaphragmatic hernia but in none of the 10 fetuses (p < 0.001) with right diaphragmatic hernia. Preferential streaming to the right heart was observed in 14 of the 15 fetuses with left hernia but in none of the 7 fetuses with right diaphragmatic hernia in whom this flow information was available (p < 0.0001). CONCLUSION Intrathoracic herniation of the liver ("liver-up") is associated with predominant left heart hypoplasia in left diaphragmatic hernia but not right fetal diaphragmatic hernia. Our observations indicate that this difference may result from different ductus venosus streaming sites in these conditions.

Purpose The aim of this study was to evaluate the prevalence of an aberrant right subclavian artery (ARSA) in a mixed-risk population in the second trimester and to assess its potential as a new soft marker in the genetic scan. Materials and methods Fetal echocardiography was performed prospectively in 1337 fetuses at 16 - 28 weeks of gestation during a 12-month period at two referral centers for prenatal diagnosis. The presence of ARSA was verified by visualization of the transverse 3-vessel trachea view with color Doppler sonography. Results The total rate of fetuses with an ARSA was 1.05 % (14 / 1337). The spectrum of associated findings in affected fetuses included: one trisomy 21, one unbalanced inversion of chromosome 9, one triploidy and two non-chromosomally related structural defects. Nine fetuses had no anomalies. The calculated odds ratio for the presence of an ARSA in the case of Down syndrome compared with healthy fetuses was 12.6 (95 % CI, 1.93 - 86.10). Conclusion The presence of an ARSA is more common in fetuses with trisomy 21 and other chromosomal defects than in healthy fetuses. Although it can be considered as a weak marker, the second trimester diagnosis of an ARSA should prompt a detailed search for additional "soft markers" and structural defects.

Objective To examine the prevalence of reversed a-wave in the ductus venosus, tricuspid regurgitation and absent nasal bone, in a second-trimester population undergoing amniocentesis, after exclusion of major fetal defects and to estimate the performance in screening for trisomy 21 based on maternal age and these markers in a general population. Methods This was a retrospective study involving pregnancies undergoing amniocentesis due to increased risk for trisomy 21, mainly because of advanced maternal age. Before the invasive procedure, an ultrasound examination was carried out to exclude major fetal defects and to examine the ductus venosus, tricuspid blood flow and the presence of the fetal nasal bone. Modeling techniques were used based on 20 000 euploid pregnancies and 20 000 pregnancies with trisomy 21 to assess the screening performance in a general population. Results The study population consisted of 3613 euploid pregnancies and 35 cases with trisomy 21. In the euploid group, reversed flow in the ductus venosus, tricuspid regurgitation and an absent nasal bone was observed in 1.7%, 1.5% and 0.1% of cases, respectively. In the trisomic group, these markers were found in 14.3%, 11.4% and 14.3% of cases, respectively. For a 5% false-positive rate, the detection rate in screening for trisomy 21, based on maternal age and either ductus venosus, tricuspid blood flow or nasal bone would be 33.8%, 32.4% or 31.4%, respectively. Screening by maternal age alone would detect 29.0% of the fetuses with trisomy 21. Receiver–operating characteristics curve analysis showed a slight but significant improvement in screening performance for trisomy 21 based on the inclusion of these markers. Conclusion Second-trimester ultrasound screening for trisomy 21 based on maternal age with additional assessment of the ductus venosus, tricuspid blood flow and the fetal nasal bone in otherwise normal-appearing fetuses is only marginally better than is screening by maternal age alone. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

Objective To evaluate the intrauterine course and outcome of tricuspid atresia detected in the fetus. Methods This was a retrospective review of all confirmed cases of tricuspid atresia detected prenatally between 1998 and 2006 in three tertiary referral centers in Germany. Results Fifty-four cases of tricuspid atresia were detected prenatally during the study period and confirmed postnatally: 28 (51.9%) cases had a concordant ventriculoarterial connection of which 14 also had pulmonary outflow obstruction; 25 (46.3%) cases had a discordant ventriculoarterial connection of which 14 also had aortic outflow obstruction, six had pulmonary outflow tract obstruction and two had other associated intracardiac anomalies; and one (1.9%) had a common arterial trunk. The peak velocity index for veins in the ductus venosus was significantly elevated in 19 of the 37 (51.4%) cases assessed; however, this finding did not correlate with adverse intrauterine outcome. There were associated extracardiac anomalies in 12 cases: five with chromosomal anomalies, two with VACTERL association, one with unilateral renal agenesis, one with hypospadia, one with hydrothorax, one with megacystis and one with agenesis of the ductus venosus. Seventeen of the 54 (31.5%) cases underwent termination of pregnancy, two (3.7%) died in utero, two (3.7%) died in infancy and 33 (61.1%) children survived with a median follow-up of 26 (range, 12–120) months. Prenatal echocardiography correctly anticipated the postnatal course and the need for neonatal intervention in 29/35 (82.9%) continued pregnancies; in the remaining six (17.1%) cases the right outflow tract obstruction had been underestimated. Conclusions Tricuspid atresia and the frequently associated intracardiac anomalies can be diagnosed in the fetus with considerable accuracy. A thorough search for extracardiac malformations should be performed in order to rule out chromosomal anomalies and multiple malformation syndromes. Elevated pulsatility in the ductus venosus does not indicate cardiac failure. The short-term overall survival in continued pregnancies in our study exceeded 89%, with the greatest rate of loss being in the first year of postnatal life. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

Background. The purpose of our study was to evaluate the maternal cardiopulmonary function and lung water content during percutaneous fetoscopic interventions under general maternal–fetal anaesthesia and continuous tocolytic medication. Methods. We prospectively studied 13 women between 19 and 30 weeks of gestation undergoing percutaneous fetoscopic procedures that were performed under general maternal–fetal anaesthesia and tocolysis using indomethacin. Invasive haemodynamic monitoring using pulmonary artery catheters and the transpulmonary indicator dilution technique was applied to determine intrathoracic blood volume (ITBV), cardiac output, and extravascular lung water (EVLW). Pulmonary vascular permeability was estimated as the ratio of EVLW/ITBV. Measurements were performed during and for 24 h after the interventions. Results. Respective mean (SD) maternal ITBV and cardiac output were 894 (191) ml min 21 m 22 and 3.29 (0.51) litre 21 min 21 m 22 intraoperatively, and 843 (169) ml min 21 m 22 and 4.47 (0.55) litre min 21 m 22 during the first postoperative day. EVLW was 7.9 (2.7) ml kg 21 during the interventions and 7.7 (1.8) ml kg 21 during the first postoperative day. The pulmonary vascular permeability index was calculated as 0.35 (0.06) during the interventions and 0.38 (0.14) for the first postoperative day. Clinically overt pulmonary oedema was not detected in any woman while pulmonary gas exchange remained normal. Conclusions. In mid-gestational women undergoing percutaneous fetoscopic interventions under general maternal–fetal anaesthesia, cardiopulmonary function remained stable. However, a moderate increase in EVLW and pulmonary vascular permeability indicates an increased risk for maternal pulmonary oedema.

Background Preterm premature rupture of membranes before 22 weeks of gestation may result in severe fetal pulmonary hypoplasia. Fetoscopic tracheal balloon occlusion might result in catch-up pulmonary growth. Case After preterm premature rupture of membranes at 16 weeks of gestation, magnetic resonance imaging at 26 0/7 weeks showed a fetal lung volume of 13 mL and pulmonary blood flow hardly could be detected. Fetoscopic tracheal balloon occlusion was performed at 27 6/7 weeks; within 6 days, fetal lung volume increased to 70 mL and lung blood flow normalized. The fetus was delivered electively at 28 6/7 weeks. Six hours after delivery, the neonate required only 21% oxygen and was extubated after 55 hours. Conclusion Short-term fetoscopic tracheal balloon occlusion may result in rapid normalization of fetal lung volume and blood flow in fetuses with life-threatening pulmonary hypoplasia from preterm premature rupture of membranes before 22 weeks of gestation.

Objective: To alleviate congenital high airway obstruction syndrome (CHAOS) from laryngeal atresia by percutaneous minimally-invasive fetoscopic tracheal decompression using laser. Methods: The procedure was performed via one trocar under general maternofetal anesthesia in a human fetus with CHAOS from laryngeal atresia at 21+6 weeks of gestation. Results: Normalization of the lung-heart size relationship was observed within days after the procedure. The fetus was delivered by ex utero intrapartum treatment (EXIT) in order to perform a tracheotomy at 31+1 weeks of gestation and survived hospital treatment to discharge. Conclusions: Percutaneous minimally-invasive fetoscopic decompression of the fetal trachea via a single trocar is feasible in human fetuses with CHAOS from laryngeal atresia.

Zusammenfassung Das klassische Ersttrimesterscreening (ETS) liefert eine durch unabhängige prospektive Studien validierte Nachweisrate für ein fetales Down-Syndrom von 86–90% bei einer falsch-positiv Rate von 5%. Durch eine Kombination von Erst- und Zweittrimestermarkern (Integrated Screening) kann eine Verbesserung der Nachweisrate auf 94–96% erreicht werden, wenn das Gesamttestergebnis erst nach Vorliegen der Zweittrimesterwerte mitgeteilt wird. Die frühe Diagnostik des klassischen Ersttrimesterscreenings und die bessere Testgenauigkeit des Integrierten Screenings können durch ein sequentielles Screening kombiniert werden, bei dem man in Fällen mittlerer Risiken eine zusätzliche Zweittrimesterbiochemie durchführt. Patientinnen mit hohen Risiken im Ersttrimesterscreening würde direkt eine invasive Diagnostik empfohlen, Patientinnen mit sehr niedrigen Risiken benötigten keine weitere Untersuchung. Genaue Zahlen für einen Risikogrenzwert ab dem eine Zweittrimesterbiochemie empfohlen wird und prospektive Studien zu diesem sequentiellen Screening liegen jedoch noch nicht vor. Sind über die Risikoangabe für eine fetale Trisomie 21 hinaus weitere Informationen zum Gesundheitszustand des Kindes gewünscht, ist ein erweitertes Ultraschallscreening im ersten Trimenon eine gute Alternative. Quantitative Aussagen zur Screeningperformance des erweiterten Ultraschallscreenings für ein fetales Down-Syndrom sind zurzeit noch nicht möglich.

We report two prenatal and two postnatal diagnosed cases (the latter monozygotic twins) with ring chromosomes after GTG banding. All four, de novo r(18), cases turned out to be more complex after application of high-resolution molecular cytogenetics techniques such as use of fluorescence in situ hybridization, centromeric probes, multicolor banding, and locus-specific probes for chromosome 18. All four cases are mosaics involving chromosome 18 in up to five different cell lines, including 46,r(18); 46,dr(18); 47,r(18)x2; 46,mar(18); and 45,-18. Mosaicism sharing both numerical and structural anomalies is rare, but rings often appear as mosaics due to their mitotic instability. Overall, patients with ring chromosome 18 usually share clinical features of 18q- syndrome and, less frequently, those of 18p- syndrome. High-resolution molecular cytogenetics techniques were useful in the characterization of cases with dynamic mosaicism and in establishing the relationship between loss or gain of chromosomal material and the phenotype.

Zielsetzung: Einfluss extrakardialer Fehlbildungen auf das Outcome pranatal diagnostizierter Heterotaxie-Syndrome. Methoden: Retrospektive Auswertung aller in einem Zeitraum von 15 Jahren (1999 – 2013) von drei erfahrenen deutschen Untersuchern (CB, RS, UG) diagnostizierten Heterotaxie-Syndrome. Evaluation aller kardialer und extrakardialer Fehlbildungen, des intrauterinen Verlauf und Korrelation mit dem Outcome. Ergebnisse: Im Studienzeitraum wurden 165 Feten mit Heterotaxie-Syndrom diagnostiziert, davon 112 Links- und 53 Rechts-Isomerien. 149 (90,3%) Feten hatten Herzfehler (86,6% der Links- und 100% der Rechts-Isomerien). Extrakardiale Fehlbildungen, die nicht die Milz betrafen, fanden sich in 26 (15,8%) Fallen. Bei 15 (14,3%) der 105 Lebendgeborenen beeinflussten diese extrakardialen Fehlbildungen den postnatalen Verlauf signifikant: ein Neugeborenes starb nach operativer Resektion einer Enzephalozele, 6 Kinder wurden erfolgreich wegen intestinalen Malrotationen und/oder Atresien, 1 Kind wegen einer Hiatushernie operiert. 7 weitere Kinder hatten eine Gallengangs-Atresie, 5 davon starben, die 2 Uberlebenden warten auf eine Lebertransplantation. Der Milzstatus (Asplenie, Polysplenie, rechtsseitige Milz) wurde bei 93 der 105 Lebendgeborenen erhoben und war bei 84 der 93 (90,3%) Kinder auffallig. 3 Kinder starben an Sepsis, alle hatten eine Asplenie. Von 38 postnatalen Todesfallen hatten 29 (76,3%) eine kardiale und 7 (18,4%) eine extrakardiale Todesursache, in 2 (5,2%) Fallen ist die Ursache unklar. Schlussfolgerung: Obwohl die meisten Todesfalle bei Feten und Kindern mit Heterotaxie-Syndromen kardiale Ursachen hatten, so beeinflussten in einem Teil der Feten auch die extrakardialen Fehlbildungen das postnatale Outcome signifikant. Diese extrakardialen Fehlbildungen entziehen sich jedoch haufig der pranatalen Diagnostik, weshalb die Neonaten sorgfaltig auf Darmobstruktionen, Gallengangsatresie und Immundefizite uberpruft werden sollten, um eine zeitnahe multidisziplinare Therapie einzuleiten.

Purpose: To examine combined first trimester screening (FTS), noninvasive prenatal testing (NIPT) and a two-step policy that combines FTS and NIPT in screening for aneuploidy. Materials and Methods: Retrospective study involving 21 052 pregnancies where FTS was performed at the Praxis Praenatal.de in Duesseldorf, Germany. In each case, the sum risk of trisomy 21, 18 and 13 was computed. We assumed that NIPT detects 99 %, 98 %, 90 % and 99 % of cases with trisomy 21, 18, 13 and sex chromosomal abnormalities and that the false-positive rate is 0.5 %. The following screening policies were examined: NIPT or FTS with sum risk cut-offs of 1 in 50 and 1 in 250 in all patients or a two-step-policy with FTS in all patients followed by NIPT in the intermediate sum risk group. For the intermediate risk group, sum risk cut-offs of 1 in 50 and 1 in 1000 and 1 in 150 and 1 in 500 were used. Results: There were 127, 34, 13 and 15 pregnancies with trisomy 21, 18, 13 and sex chromosomal abnormalities. 23 fetuses had other chromosomal abnormalities with an increased risk for adverse outcome that are not detectable by NIPT. 20 840 pregnancies were classified as normal as ante- and postnatal examinations did not show any signs of clinically significant chromosomal abnormalities. FTS with a sum risk cut-off of 1 in 50 and 1 in 250 detects 81 % and 91 % for all aneuploidies. NIPT detects 88 % of the respective pregnancies. The 2-step approach with sum risk cut-offs of 1 in 50 and 1 in 1000 detects 94 % of all aneuploidies. With sum risk cut-offs of 1 in 150 and 1 in 500, the detection rate is 93 %. Conclusion: A 2-step policy with FTS for all patients and NIPT in the intermediate risk group results in the highest detection rate of all aneuploidies.

Objective. The purpose of this study was to survey prenatal sonographic findings and their frequencies in fetuses with complete trisomy 22 and to identify potential sonographic markers of this aneuploidy. Methods. Sonographic examinations of 5 fetuses were performed and chromosome analysis was conducted after amniocentesis, chorionic villus sampling, cordocentesis, or a combination thereof. The sonographic findings were compared with other prenatal cases in the literature. Results. Intrauterine growth restriction, hypoplastic femurs, nuchal thickening, cerebellar defects, and oligohydramnios were the most frequently observed anomalies in all considered cases of late first-, second-, and third-trimester scans. Conclusions. These anomalies represent commonly accepted sonographic markers for chromosomal defects in general, some recognizable from the time of first-trimester screening (12th‐14th weeks of gestation) and stress their importance for prenatal sonographic scans.

Item does not contain fulltext The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4-42%] for MZ and 18% (95% CI 5-48%) for DZ twin pairs (P=0.53). The probandwise concordance rates were 27% (95% CI 11-52%) for MZ and 31% (95% CI 13-58%) for DZ twin pairs (P=0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited. 01 oktober 2012