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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).

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.

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.

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.

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.

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.

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

Some drugs are known for their fetal nephrotoxicity and should be avoided during pregnancy. We report on a pregnant woman suffering from breast cancer who received a weekly neoadjuvant trastuzumab (Herceptin®) therapy from 15 weeks of gestation onward, in addition to a 3-weekly carboplatin/docetaxel chemotherapy. Fetal renal insufficiency with anhydramnios and missing visualization of the fetal bladder developed at 21 weeks. After discontinuation of trastuzumab and repeated instillation of amniotic fluid, the amount of amniotic fluid remained stable after 24 weeks of gestation. After caesarean section at 34 weeks because of fetal growth restriction, the renal function of the neonate was normal postnatally. In accordance with the current literature, our case shows a reversible adverse effect of trastuzumab on the fetal renal function and confirms the current recommendation that trastuzumab in pregnancy should be avoided. In pregnancies exposed to trastuzumab, treatment should be discontinued and the fetus should be closely monitored, with particular attention to the amniotic fluid and the fetal bladder volume, as these reflect fetal renal function.

a drop in saturation to 90% despite an FiO2 of 0.8. These values immediately normalized after adjusting the insufflation pressure. Fetal demise was observed after four procedures but could not be attributed to PACI (three fetuses did not tolerate anesthesia, one fetus died from placental hemorrhage). Conclusions: In this still small clinical series, PACI was well tolerated by pregnant women and her fetuses during fetoscopic surgery for spina bifida aperta. Careful monitoring and adjustments of insufflation pressure at all times may aid in avoiding undesired maternal hemodynamic events.

and the current standard of care is represented by the maximal surgical effort aimed at leaving no residual disease. Bowel resection is common intervention in experienced hands for achievement of optimal debulking. We analysed ability of transvaginal ultrasound to predict need of rectosigmoid resection. Methods: Retrospective study comparing transvaginal ultrasound findings and histopatology and preoperative findings in advanced ovarian cancer patients (stages IIC-IV) surgically debulked at our department in years 2009–2011. Results: In total, 214 patients were included into this study, in 88 of them, rectosigmoid resection was needed to achieve complete debulking and involvement of bowel serosa or wall was confirmed by histology. In 82 of them ultrasound predicted need of bowel resection. In addition, ultrasound indicated bowel involvement in 92 patients, however, in 10 of them the bowel was not affected (as assessed by surgeon). This gives the sensitivity for transvaginal ultrasound prediction of rectosigmoid resection 93.2% and specificity 92.1% (PPV 89.1% and NPV 95.1%). Conclusions: Transvaginal ultrasound has high accuracy in prediction of rectosigmoid resection and thus allows for planning appropriate surgical team and conditions. This work was supported by the Internal Grant Agency, Ministry of Health of the Czech republic, project No. NT13070.

Introduction: Previous studies have shown that fetal gender had influence on various pregnancy complications and prenatal diagnostic biochemical markers. We have evaluated, whether elevation of amniotic fluid alpha-fetoprotein (AF-AFP) is associated with fetal sex and whether a sex-related difference can help to identify pregnancies with AFP-associated malformations or poor pregnancy outcome. Material and methods: From our database, we obtained 6461 singleton gestations with absolute values and corresponding multiples of the median (MoM) for AF-AFP for the period database April 1997–March 1999. In all instances high-resolution ultrasonography was performed before amniocentesis to measure biparietal diameter. Patients with AF-AFP ≥2 MoM were identified, details of pregnancy outcome were obtained and compared to matched-pair-controls having AF-AFP