X. Hao

Fetal retroesophageal left brachiocephalic vein with U‐shaped vascular ring on four‐dimensional color Doppler ultrasound

Retroesophageal or retrotracheal left brachiocephalic vein (LBCV) is a very rare anomaly, first described by Yigit et al.1 Subsequently, a study was conducted using computed tomography to examine LBCV in children,2 and a case of fetal retrotracheal LBCV with a complex cardiac anomaly has been reported.3 In addition, the prenatal evaluation of fetal LBCV and the normal reference ranges for LBCV have been established.4.

Fetal cardiac tumors: fetal echocardiography, clinical outcome and genetic analysis in 53 cases

To analyze the imaging and clinical features of fetal cardiac tumors, and to explore the relationship between tuberous sclerosis complex (TSC) and cardiac rhabdomyoma in the fetus.

P13.07: Fetal aortic arch and its branches anomalies: prenatal ultrasound, vascular cast and gene detection: Poster discussion hub abstracts

P13.04 Echo AV interval overestimates MCG PR interval in SSA+ pregnancies: evidence for new criteria for 1◦ AV block B. Cuneo2,1, J.F. Strasburger5, A.M. Kaizer4, S. Bitant3, W. Lutter3, R.T. Wakai3 1Heart Institute, Children’s Hospital Colorado, Denver, CO, USA; 2Colorado Fetal Care Centre, University of Colorado Denver, Aurora, CO, USA; 3Medical Physics, University of Wisconsin-Madison, Madison, WI, USA; 4Biostatistics and Informatics, Colorado School of Public Health, UC Denver, Aurora, CO, USA; 5Pediatric Cardiology, Medical College of Wisconsins, Milwaukee, WI, USA

OC26.03: Comparison of the prevalence of pathogenic copy number variation in tetralogy of Fallot and associated congenital heart defect diagnosed between fetuses and children

Objectives: To ascertain the use of whole genome low coverage sequencing in TOF and associated defects in fetuses and children. Methods: A total of 143 with TOF (70 fetuses and 73 children) confirmed by pathological anatomy were analysed from the data base at the Beijing Anzhen Hospital. Demographic, echocardiography and whole genome low coverage sequencing (×1) data were reviewed to investigate the association between genetic abnormalities and TOF. Results: 21 cases (21/70; 30%) in fetuses had pathogenic CNVs. 1 had SMS, 2 with 22q11DS, 1 with 22q11 microduplication, 1 with 1p36DS, 1 with 17p12 microdeletion, 2 with Down’s syndrome, 2 with Edward syndrome and one case of Patau syndrome. While 8 cases (8/73; 11%) in fetuses had pathogenic CNVs. 5 with 22q11DS, 1 with 22q11 microduplication, and 1 case had Xp22.2 microduplication. There was significant difference in pathogenic CNV between fetuses and children (p<0.01). In this cohort, 38 cases (38/70; 54%) in fetuses and 39 cases (39/73; 53%) in children were complicated with other intracardiac malformations. For the cases with pathogenic CNVs, 13 cases (13/21; 62%) in fetuses were complicated with other intracardiac malformations. And 5 cases (5/8; 63%) in children were complicated with other intracardiac malformations. There was no significant difference in associated other intracardiac malformations between fetuses and children, with both the whole cohort and pathogenic CNVs (p>0.05). Conclusions: There was a significant yield of pathogenic CNVs by whole genome low coverage sequencing in fetuses and children with TOF. The prevalence of CNVs in fetuses was higher than children with TOF.

P01.02: Frequency of 22q11 microdeletion syndrome in fetuses with conotruncal heart disease: Poster discussion hub abstracts

J.S. Carvalho2,1, L. Gordin Kopylov3,4 1Brompton Centre for Fetal Cardiology, Royal Brompton Hospital, London, United Kingdom; 2Molecular and Clinical Sciences Research Institute, St George’s Hospital University of London, London, United Kingdom; 3Ultrasound Unit, Department of Obstetrics and Gynecology, Assaf Harofeh Medical Centre, Tel Aviv, Israel; 4Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

Prenatal Diagnosis of Bilateral Ductus Arteriosi and an Anomalous Origin of the Right Pulmonary Artery From the Right-Sided Duct: Clinical Letters

Bilateral ductus arteriosi (DAs) with an anomalous origin of the right pulmonary artery (PA) are rare and usually present with heart failure and pulmonary hypertension in early infancy. We report a case of bilateral DAs with an anomalous origin of the right PA from the right DA that was diagnosed on fetal echocardiography and confirmed via vascular casting. A 31-year-old primigravid Chinese woman was referred to our maternal-fetal unit at a gestational age of 22 weeks 2 days with a suspected anomalous origin of the right PA from the ascending aorta. There was no medication use during pregnancy. The cell-free fetal DNA test suggested a low risk of aneuploidy. An ultrasound examination showed normal fetal growth and no hydrops fetalis or other organ anomalies. A fetal echocardiographic examination revealed unremarkable atrioventricular valves and semivalves, an intact ventricular septum, and a normal primary atrial septum and foramen flap. The left PA was contiguous with the main PA, and no confluence was noted with the right PA (Figure 1A). The aortic arch was on the left, and the left DA appeared normal. A transverse view of the aortic arch showed an anomalous vessel originating from the right side of the aortic arch, and spectral Doppler imaging confirmed that it was the PA. From a long-axis view,

Prenatal diagnosis of Berry syndrome by fetal echocardiography: A report of four cases

Berry syndrome is a rare congenital cardiac malformation. We describe 4 cases of Berry syndrome diagnosed by fetal echocardiography. Based on our experience, the three‐vessel view is important for diagnosing the aortopulmonary window and aortic origin of the right pulmonary artery. Furthermore, the true cross‐sectional and sagittal views obtained by continuously scanning from the three‐vessel‐trachea view to the long‐axis view of the aortic arch are required to image the interruption or coarctation of the aortic arch. An early and accurate prenatal diagnosis of Berry syndrome is feasible and helps to improve patient outcomes.

OP16.04: The prevalence of pathogenic copy number variation in tetralogy of Fallot and associated congenital heart defect diagnosed prenatally

a combination of four echocardiographic parameters1. The objective of this study is to validate the utility for predicting the postnatal outcome of fetuses with PA-CS/IV by this score. Methods: Observational study of prospective cohorts undertaken at a tertiary centre of fetuses with PA/CS-IVS between January 2010-June 2016. We used the cut-off points of our score (tricuspid valve/mitral valve ratio ≤0.83, pulmonary valve/aortic valve ratio ≤0.75, right ventricle length/left ventricle length ratio ≤0.64, and tricuspid inflow duration/cardiac cycle length ≤36.5%). We included 3 patients underwent prenatal pulmonary valvuloplasty (PPV) in order to determine the discriminatory capacity of these cases with the score. We divided the score into three subgroups: ≤ 1 parameter (high probability of BVC), 2 (PPV candidates) and ≥ 3 (high probability of non-BVC). We evaluated the predictive capability of the score for these three prognosis situations. Results: The study group included 29 liveborn fetuses (22 with BVC and 7 with non-BVC). The presence of ≤ 1 parameter of the score allowed to predict a BVC with a sensitivity (Sn) of 74% (CI 95, 51-88%) and a specificity (E) of 80% (CI 95%, 49-94%). If ≥ 3 markers were presented a non-BVC were predicted with a Sn of 43% (CI 95%, 16-75%) and a E of 91% (CI 95%, 72-98%). Finally, cases candidates for PPV could be predicted in those with two parameters with a Sn of 100% (CI 95%, 44-100%) and a E of 81% (CI 95%, 62-92%). Conclusions: The postnatal outcome of PA/CS-IVS fetuses can be predicted with good precision by means of a score based on 4 echocardiographic parameters that are easy to explore. This score also allows us to select cases candidates for fetal therapy.

EP05.06: The analysis of misdiagnosis and missed diagnosis by fetal echocardiography combined with cardiovascular cast

Objectives: We sought to compare the fetal echocardiographic findings in complex congenital heart disease (CHD) with cardiovascular cast of pathological specimens. Methods: A total of 21 fetuses with complex CHD were studied by fetal echocardiography (FE) in Beijing An Zhen Hospital/Beijing Heart and Lung Institute from May 2016 to August 2016. Diagnosis included: TOF (n=5), DORV (n=6), TGA(n=2), PA(n=4), CoA(n=3), double aortic arches(n=2), right-sided aortic arch(n=3), aberrant subclavian artery(n=1), TAPVC(n=1), PLSVC(n=4), AVSD(n=2), HRHS(n=1), dysphasia of tricuspid valve(n=1). After termination of pregnancy, cardiovascular casts were obtained as a gold standard and compared with FE. Results: There was no significant difference in diagnosis of the complex CHD between FE and cardiovascular casts (FE diagnostic accuracy 21/21 = 100%). However, it was confirmed that there were 46 associated CHDs in this cohort. For the associated CHDs, there were 2 misdiagnoses (2/46, 4.35%, i.e. confirmed absent ductus arteriosus (n= 1) and hepatic venous anomaly (n=1 case)); whereas there were 9 missed diagnoses (9/46, 19.57%, i.e. abnormal ductus arteriosus course (n= 3), abnormal ductus arteriosus morphology (n=2) and abnormal return of the superior vena cava (n=2) and aberrant subclavian artery (n=2). Conclusions: FE provides highly accurate diagnosis of CHD, including complex CHD. Vascular abnormality is the one of the most easily missed diagnoses by FE.