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ABSTRACT: Objective: To compare prenatal findings, associated genetic anomalies and postnatal outcome in fetuses with tetralogy of Fallot (TOF) with normal cardiac axis (CAx) and those with abnormal CAx. Methods: In this retrospective cohort study, 85 cases diagnosed with TOF by prenatal ultrasound at our clinic between 2005 and 2015 were reviewed. Follow‐up ultrasound and postnatal outcome were available for 68 cases. One case complicated with absent pulmonary valve syndrome and a further seven cases diagnosed postnatally with anomalies other than TOF were excluded from the study. The remaining 60 cases of postnatally confirmed TOF were divided according to CAx into two groups: those with normal CAx (n = 33) and those with abnormal CAx (n = 27). CAx was defined as the angle between the interventricular septum and midline of the fetal thorax at the level of the four‐chamber view. CAx > 65° or < 25° was considered abnormal. Prenatal sonographic findings, associated genetic anomalies and postnatal outcome were compared between the two groups. Results: Fetuses with TOF and abnormal CAx were more likely to have pulmonary atresia (40.7% vs 15.2%; P = 0.026) and right‐sided aortic arch (48.1% vs 21.2%; P = 0.028) than those with normal CAx. Postnatal death occurred in 30.4% of infants with abnormal CAx vs 6.5% with normal CAx (P = 0.028). Incidence of tested genetic anomalies was similar between the two groups. Conclusion: In fetuses with TOF, abnormal CAx is associated with the presence of pulmonary atresia, right‐sided aortic arch and a higher risk of postnatal death. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: To assess the spectrum of associated anomalies, intrauterine course and outcome in fetuses with absent pulmonary valve syndrome (APVS).Methods: All cases with a prenatal diagnosis of APVS at two centers over a period of 13 years were analyzed retrospectively. APVS was diagnosed in the presence of rudimentary or dysplastic pulmonary valve leaflets with to-and-fro blood flow in the pulmonary trunk on color and pulsed-wave Doppler ultrasound. Data on demographic characteristics, presence of associated conditions, Doppler studies and pregnancy outcome were reviewed.Results: During the study period, 40 cases of APVS were diagnosed prenatally. Thirty-seven (92.5%) cases were associated with tetralogy of Fallot (TOF) and three (7.5%) had an intact ventricular septum. Patency of the ductus arteriosus (DA) was found in 17/37 (45.9%) TOF cases and in all three cases with an intact ventricular septum. Mean gestational age at diagnosis was 19.7 (range, 12-34) weeks with 10 (25.0%) cases (all with TOF) diagnosed in the first trimester. TOF was an isolated finding in 15 (37.5%) cases. Chromosomal anomalies, cardiac defects and extracardiac anomalies were present in 18 (45.0%), four (10.0%) and three (7.5%) cases, respectively. Among the 40 cases, there were 19 (47.5%) terminations of pregnancy, six (15.0%) intrauterine deaths, four (10.0%) neonatal deaths and 11 (27.5%) survivors. Patency of the DA, reversed flow during atrial contraction in the ductus venosus, umbilical artery or fetal middle cerebral artery, and hydrops/increased nuchal translucency thickness were significantly associated with non-survival. All 10 cases diagnosed in the first trimester had a patent DA and abnormal Doppler parameters, eight had hydrops and/or increased nuchal translucency, six were associated with trisomy 13 or 18 and none survived.Conclusion: APVS diagnosed in the first trimester is significantly associated with TOF, patency of the DA, abnormal Doppler parameters, lethal trisomies and intrauterine mortality. Cases of APVS with isolated TOF and agenesis of the DA have a better outcome than those with additional anomalies, with > 80% survival. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To review the anomaly spectrum of prenatally detected absent pulmonary valve syndrome ( APVS) and the outcome after diagnosis. Previous fetal studies reported survival rates of ≤ 25% for patients with intended postnatal care. Methods Clinical data and echocardiograms of 12 cases with a fetal diagnosis of APVS between 2000 and 2010 were analyzed in this retrospective single-center study. Collected parameters included: gestational age at referral, associated fetal abnormalities, cardiothoracic ratio, maximum diameters of pulmonary annulus and main and branch pulmonary arteries, ventricular dimensions and function as well as ventricular Doppler flows. Karyotyping included fluorescence in-situ hybridization ( FISH) analysis for microdeletion 22q11.2. Results Median gestational age at diagnosis was 24 weeks. Three subtypes of APVS were observed: (1) with tetralogy of Fallot ( TOF) and no arterial duct ( n = 10; 83%); (2) isolated, with a large arterial duct ( n = 1; 8%); and (3) with tricuspid atresia, right ventricular dysplasia and a restricted duct ( n = 1; 8%). The cardiothoracic ratio and pulmonary artery dimensions were increased in all cases. The karyotype was abnormal in 70% of fetuses with TOF and their mortality rate was significantly higher due to pregnancy termination ( n = 3) or perinatal demise ( n = 2) (hazard ratio, 5; 95% CI, 0.87−28.9; P = 0.015). Of seven live births with active postnatal care, six children (86%) were alive without residual respiratory symptoms at a median follow-up of 4.7 (range, 2.1−10.6) years. Conclusion Outcome after fetal diagnosis of APVS was significantly better in this study compared with those of previous fetal series, with a low mortality rate for actively managed patients. [ABSTRACT FROM AUTHOR]

Objectives Tetralogy of Fallot with absent pulmonary valve syndrome (TETAPV) is reported in obstetric literature to have an extremely poor prognosis. We sought to determine the clinical outcome associated with TETAP V and whether prenatal diagnosis confers a poor prognosis. Methods All cases of TETAPV diagnosed in British Columbia between 1980 and 2009 were reviewed and grouped according to time of diagnosis, either prenatal or postnatal. The groups were compared with respect to mortality, respiratory problems, number of interventions and functional capacity at last follow-up. Results Eight and 11 patients were included in the prenatally and postnatally diagnosed groups, with overall long-term survival of 71% and 82%, respectively. There was no significant difference in mortality, frequency of preoperative intubation, number of interventions or functional capacity between groups. Conclusion From a population~based retrospective analysis of TETAPV cases identified over three decades it is concluded that the prognosis for YE TAP V is better than that previously reported in the obstetric literature. This information should be used to guide prenatal counseling. [ABSTRACT FROM AUTHOR]

Objective: To determine the incidence of reversed end-diastolic flow (REDF) in the umbilical artery in high-risk first-trimester pregnancies and evaluate associated conditions. Methods: This was a prospective evaluation of the umbilical artery Doppler waveforms of 614 consecutive high-risk pregnancies between 10 and 14 weeks of gestation, to determine those with REDF. The associated anomalies and characteristics of these fetuses were then investigated. Results: In 278/614 (45.3%) fetuses, there was positive end-diastolic flow in the umbilical artery; in 331/614 (53.9%) end-diastolic flow was absent and in 5/614 (0.8%) there was REDF. Three of the five fetuses with REDF had tetralogy of Fallot (TOF) with absent pulmonary valve syndrome (APVS) and a patent ductus arteriosus, and all three showed signs of cardiac failure, with reversed blood flow in the ductus venosus during atrial systole and generalized skin edema. Another fetus had a large ventricular septal defect and the remaining fetus had agenesis of the ductus venosus. Three fetuses had trisomy 18 and one had trisomy 13. Conclusions: REDF in the umbilical artery is very rare in early pregnancy and mostly occurs in association with major fetal vascular anomalies and cardiac defects, particularly TOF with APVS and patent arterial duct. We propose that the patency of the arterial duct in TOF with APVS leads to heart failure with subsequent demise early in pregnancy. Therefore, the frequent absence of the arterial duct observed in APVS in later pregnancy is more likely to be a result of early selection than a prerequisite for the development of this lesion as has been proposed previously. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 30-year-old woman who undergoes early fetal echocardiography after an increase in fetal nuchal translucency thickness. The fetus undergoes presumptive diagnosis for absent pulmonary valve syndrome associated with membranous tricuspid atresia, which was confirmed by a follow-up scan. Further pregnancy complications prompted elective Cesarean section. The male newborn successfully completed a bidirectional cavopulmonary anastomosis at the age of 8 months.

An abstract of the article "Semilunar valve growth in fetal transposition of the great arteries - is pulmonary valve size predictive of postoperative aortic root dilatation?" by S. B. Clur and colleagues is presented.

An abstract of the research paper "First trimester sonographic finding in fetus having tetratology of Fallot with abscent pulmonary valve syndrome: case report," by J. Lee and colleagues is presented.