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Objective: 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.Method: Multicenter retrospective study of the International Prenatal Cardiology Collaboration Group. 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 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.Conclusion: 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 Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Objectives. To evaluate the prenatal features, associated anomalies and the postnatal management in fetuses with prenatally detected double-outlet right ventricle (DORV). Methods. Retrospective analysis of prenatal, pediatric and cardiosurgical records for all fetuses with prenatally diagnosed DORV at a single tertiary referral center. Results. 21 cases were detected prenatally with DORV (average gestational age 233/7 weeks). Fetal karyotyping was available in all cases revealing 3 cases with trisomy 18 and one fetus with trisomy 21. 10/21 (47.6%%) cases had additional cardiac anomalies only, one fetus (4.8%%) had extra-cardiac anomalies only. 8/21 cases (38.1%%) presented with both additional cardiac- and extra-cardiac anomalies. A total of 13/21 (61.9%%) fetuses were live-born. Average gestational age at delivery was 373/7 gestational weeks. There were four Rastelli maneuvers, one Fontan intervention and three children with resection of a coarctation of the aorta among the group of the surviving infants. Conclusions. Prenatal, sonographic detection of DORV is feasible. The majority of the cases shows a normal karyotype. Outcome strongly depends on the presence and severity of additional anomalies of the fetus. Surgical intervention in DORV can lead to a favorable outcome in simple DORV. DORV not aggravated by additional defects seems to be no contraindication for a vaginal delivery. [ABSTRACT FROM AUTHOR]

Objective:  Congenital corrected transposition of the great arteries (ccTGA) is a rare congenital cardiac anomaly which remains difficult to diagnose prenatally. We aim to investigate the natural history, associated anomalies and the outcome of patients in prenatally diagnosed ccTGA., Method:  This was an international multicenter retrospective analysis of fetuses with a diagnosis of ccTGA from 2002 to 2017. We reviewed clinical and echocardiographic databases of seven centers. Anatomic survey and fetal echocardiography were performed according to international guidelines of ISUOG., Results:  We considered 69 fetuses with prenatally suspected ccTGA. There was an overall survival rate of 91 % among 54 patients with a confirmed diagnosis. Survival to live birth was 96 % (52/54) and survival on an intention-to-treat basis was 94 % (49/52). The mean gestational age at the time of diagnosis was 25.6 ± 5.9 weeks of gestation. In 7 out of 54 fetuses (13 %), ccTGA was an isolated finding. Dextro/mesocardia was present in 15 cases (27.8 %). Intracardiac anomalies were present in 46/54 cases (85.2 %) with the most frequent anomaly being a ventricular septal defect present in 41 fetuses (75.9 %). Complete heart block was diagnosed in 10 cases (18.5 %). Extracardiac anomalies were observed in 9 out of 54 cases (16.7 %). Prenatal karyotyping of the fetus was available in 30/54 (55.6 %) cases with chromosomal anomalies in 4/30 (13.3 %)., Conclusion:  ccTGA is a rare cardiac anomaly often accompanied by a variable spectrum of further intracardiac abnormalities. Accurate diagnosis of ccTGA, which can be integrated into parental counselling, is feasible with a favorable short-term outcome for affected neonates., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Purpose  The introduction of first trimester screening has changed the attitude towards and the number of invasive procedures in prenatal medicine. We evaluated the indications in patients who underwent an invasive procedure before the introduction of the analysis of cell-free fetal DNA in maternal plasma in prenatal medicine. Materials and Methods  680 pregnant women between the 10th and 35th week of gestation were included in the study from July 1, 2010 to June 30, 2013. Retrospectively, we reviewed the data for indications, type, gestational age at the time of, and result of the invasive procedure. Results  We performed 247 chorionic villus samplings (CVSs) and 433 amniocenteses (ACs) during the study interval. The main indication for CVS was an abnormal result from the first trimester screening (75 %), whereas in AC it was advanced maternal age (39 %). 33 % of all CVSs and 8 % of all ACs revealed an abnormal karyotype. All these findings were significantly different. Conclusion  Despite the broad acceptance of first trimester screening, there are still women undergoing AC for advanced maternal age, whereas abnormal results from the first trimester screening are the most common indication for CVS. Based on our results, we can conclude that indications derived from first trimester findings have the highest positive predictive value., (© Georg Thieme Verlag KG Stuttgart · New York.)

Objective: To evaluate patterns of fluid allocations in different etiologies of hydrops fetalis., Study Design: This report is a retrospective cohort study on 20,395 fetal sonographic evaluations in a single tertiary center from 2000 to 2014. Special emphasis was placed on the exact description of the distinct fluid allocation sites in each fetus. Postmortem/postnatal records were evaluated additionally. Mean follow up of the surviving neonates was 34 days (10-60 days)., Results: There seem to be distinctive patterns of fluid allocation in some etiologies leading to fetal hydrops including aneuploidies and Parvovirus B19 related infections., Conclusion: Due to the allocation patterns of fluid filled sites in fetuses with hydrops fetalis the spectrum of possible etiologies may be narrowed already during initial ultrasound scan. It can contribute substantially to diagnostic accuracy as well as to parental counseling. This knowledge may also help to omit delay in diagnostic routines., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)