Summary Approximately 1–2 per 1000 newborn babies have a cardiac defect that is potentially life-threatening usually because either the systemic or the pulmonary blood flow is dependent on a patent ...ductus arteriosus. A significant proportion of newborns with such cardiac defects are being discharged from well-baby nurseries without a diagnosis and therefore risk circulatory collapse and death. This risk is greatest for defects with duct-dependent systemic circulation, notably aortic arch obstruction, but is also significant in transposition of the great arteries, for example. The solution to this problem, apart from improving prenatal detection rates, is to introduce effective neonatal screening including routine pulse oximetry.
This report evaluates results of a screening program on prenatal detection of congenital heart defects in a geographical cohort of western Sweden between January 1st, 2013 and June 31st, 2017. During ...the study period 88,230 children were born in VGR.
Retrospective data on pregnant women from the Västra Götaland region that were referred to fetal cardiologists in Gothenburg were retrieved. To determine prenatal detection rate, all neonates who underwent surgery or catheter intervention for a critical congenital heart defect born between January 1st, 2014 and December 31st, 2016 were included. The four-chamber view was implemented into the routine scan in 2009 and implementation of the ISUOG guidelines, including the outflow tracts, started in the region in 2015.
113 fetuses received a prenatal diagnosis of a major congenital heart defect. 89% of these were referred because of a suspected cardiac malformation and 88% were diagnosed before 22 completed weeks. 59% of the patients diagnosed before 22 completed weeks opted for termination of pregnancy. During 2014-2016, 61 fetuses had a prenatal diagnosis of a critical congenital heart defect and a further 47 were diagnosed after birth, hence 56% were diagnosed prenatally, 82% for those which had a combination with an extracardiac abnormality and/or chromosomal aberration compared to 50% if an isolated critical congenital heart defect was diagnosed. For single ventricle cardiac defects such as hypoplastic left heart syndrome, double inlet left ventricle and tricuspid atresia, the detection rate was 100%. The detection rate for transposition of the great arteries and coarctation of the aorta was 9 and 18% respectively.
56% of all fetuses with a critical congenital heart defect were diagnosed prenatally during 2014-2016 and approximately 53% of all major congenital heart defects 2013-2017 as compared to 13.8% in 2009 in the same region. An increased focus towards the fetal heart in the routine scan improved the prenatal detection rate of major congenital heart defects. The detection of congenital heart defects affecting the four-chamber view seems sufficient, but more training is needed to improve the quality of the examination of the outflow tracts.
Prenatal diagnosis of aortic coarctation suffers from high false-negative rates at screening and poor specificity.
This retrospective study tested the applicability of published aortic arch and ...ductal Z scores (measured just before the descending aorta in the 3-vessel and tracheal view) and their ratio on 200 consecutive normal controls at a median of 22+/-0 gestational weeks (range, 15+/-4 to 38+/-4 weeks). Second, this study tested the ability of serial Z scores to distinguish fetuses with coarctation within a cohort with ventricular and/or great arterial disproportion detected at screening or fetal echocardiography. Third, it evaluated the diagnostic significance of associated cardiac lesions, coarctation shelf, and isthmal flow disturbance. We studied 44 fetuses with suspected coarctation at 24+/-0 weeks (range, 17+/-3 to 37+/-4 weeks). Receiver-operating characteristic curves were created. Logistic regression tested the association between z scores, additional cardiac diagnoses, and coarctation. Good separation was found of isthmal Z scores for cases requiring surgery from controls and false-positive cases, and receiver-operating characteristic curves showed an excellent area under the curve for isthmal Z score (0.963) and isthmal-to-ductal ratio (0.969). Serial isthmal Z scores improved to >-2 in suspected cases with normal outcomes; those requiring surveillance or surgery remained <-2. Minor lesions did not increase the diagnostic specificity of coarctation, but isthmal flow disturbance increased the odds ratio of true coarctation versus arch hypoplasia 16-fold.
Isthmal Z scores and isthmal-to-ductal ratio are sensitive indicators of fetal coarctation. Serial measurements and abnormal isthmal flow patterns improve diagnostic specificity and may reduce false positives.
Background Norwood surgery provides a palliative surgical option for hypoplastic left heart syndrome and has been available in Sweden since 1993. The practice of prenatal ultrasound screening was ...gradually implemented in the same era, resulting in an increased prenatal detection rate. Our primary aims were to study changes in the incidence of live births, prenatal detection rate, and the termination of pregnancies over time. The secondary aims were to study the proportion of live-borns undergoing surgery and to identify factors that influenced whether surgery was or was not performed. Methods and Results Neonates with hypoplastic left heart syndrome with aortic atresia born 1990-2010 were identified through national databases, surgical files, and medical records. The fetal incidence was estimated from the period when prenatal screening was rudimentary. The study period was divided into the presurgical, early surgical, and late surgical periods. The incidence was calculated as the overall yearly incidence for each time period and sex separately. Factors influencing whether surgery was performed were analyzed using Cox-logistic regression. The incidence at live birth decreased from 15.4 to 8.4 per 100 000. The prenatal detection rate increased from 27% to 63%, and terminations increased from 19% to 56%. The odds of having surgery was higher in the late period and higher in the group with prenatal diagnosis. Conclusions We observed a decrease in incidence of live-borns with hypoplastic left heart syndrome aortic atresia. There was in increase in prenatal detection rate and an increase in termination of pregnancy. The proportion of live-borns who underwent surgery increased between time periods.
Background Hypoplastic left heart syndrome is associated with significant morbidity and mortality. We aimed to assess the influence of left ventricular morphology and choice of shunt on adverse ...outcome in patients with hypoplastic left heart syndrome and stage 1 palliation. Methods and Results This was a retrospective analysis of patients with hypoplastic left heart syndrome with stage 1 palliation between 1999 and 2018 in Sweden. Patients (n=167) were grouped based on the anatomic subtypes aortic-mitral atresia, aortic atresia-mitral stenosis (AA-MS), and aortic-mitral stenosis. The left ventricular phenotypes including globular left ventricle (Glob-LV), miniaturized and slit-like left ventricle (LV), and the incidence of major adverse events (MAEs) including mortality were assessed. The overall mortality and MAEs were 31% and 41%, respectively. AA-MS (35%) was associated with both mortality (all other subtypes versus AA-MS: interstage-I: hazard ratio HR, 2.7;
=0.006; overall: HR, 2.2;
=0.005) and MAEs (HR, 2.4;
=0.0009). Glob-LV (57%), noticed in all patients with AA-MS, 61% of patients with aortic stenosis-mitral stenosis, and 19% of patients with aortic atresia-mitral atresia, was associated with both mortality (all other left ventricular phenotypes versus Glob-LV: interstage-I: HR, 4.5;
=0.004; overall: HR, 3.4;
=0.0007) and MAEs (HR, 2.7;
=0.0007). There was no difference in mortality and MAEs between patients with AA-MS and without AA-MS with Glob-LV (
>0.15). Patients with AA-MS (35%) or Glob-LV (38%) palliated with a Blalock-Taussig shunt had higher overall mortality compared with those palliated with Sano shunts, irrespective of the stage 1 palliation year (AA-MS: HR, 2.6;
=0.04; Glob- LV: HR, 2.1;
=0.03). Conclusions Glob-LV and AA-MS are independent morphological risk factors for adverse short- and long- term outcome, especially if a Blalock-Taussig shunt is used as part of stage 1 palliation. These findings are important for the clinical management of patients with hypoplastic left heart syndrome.
Patients with coarctation of the aorta (CoA) have increased left ventricular (LV) afterload that has been shown to impact the LV and ascending aortic function. We aimed to examine the effect of ...coarctation on LV function and aorto-septal angle (AoSA) before and after surgical repair.
We retrospectively studied 21 patients with surgically repaired CoA at a median age of 9 (2-53) days at three time points: (1) just before intervention, (2) at short-term follow-up, and (3) at medium-term follow-up after intervention. AoSA was measured from the parasternal long axis view, at three time points during the cardiac cycle: (1) end diastole, (2) beginning of systole, and (3) at peak ejection in the descending aorta. In addition to conventional LV structure and function, global longitudinal strain, and strain rate were measured using STE technique and Tomtec software. Three groups of age matched healthy children served as controls at each time point.
AoSA was significantly wider before intervention, in particular at peak ejection in the descending aorta (144° ± 6.4° vs. 136° ± 4.1°; P < .0001), and correlated with CoA pressure gradient. After intervention, AoSA normalized and significantly correlated with the increase of LV cavity function and overall LV deformation parameters.
AoSA is abnormally wide in neonates with CoA and is associated with severity of obstruction, LV dysfunction and compromised LV global deformation.
Aim
Adding perfusion index (PI) to pulse oximetry screening (POS) may increase neonatal detection of CoA (aortic coarctation). A cut‐off <0.7% has been suggested but is associated with a high rate of ...false positives. We aimed to evaluate the specificity of PI when using repeated instead of single measurements.
Methods
A pilot study was conducted in 50 neonates. PI was recorded in right hand and a foot by pulse oximeter. If PI was <0.7%, the measurement was immediately repeated up to 3 times. If all three measurements were <0.7% in hand and/or foot the screen was positive and echocardiography was performed. There were 3/50 false‐positive screens. The protocol was therefore modified requiring 30 min intervals between measurements.
Results
An additional 463 neonates were included using the modified protocol at a median age of 18 h. There were no false positives. The only neonate with CoA had a negative screen (PI hand 1.2% and foot 0.8%). The measurement required on average an extra 3 min and 30 s compared with POS only.
Conclusion
The false‐positive rate of PI was reduced by using repeated PI measurements. The sensitivity for CoA using this protocol should be evaluated in large‐scale prospective studies.
To determine what contribution prenatal ultrasound screening and neonatal pulse oximetry screening (POS) make to the timely diagnosis of neonatal coarctation of the aorta (CoA).
We identified infants ...and fetuses diagnosed with isolated CoA in our referral area between 2003 and 2012 who died without surgery, underwent surgical repair before 2 months of age, or were terminated after a prenatal diagnosis. Clinical data were collected from hospital charts.
Only 3 of the 90 cases were diagnosed prenatally. Two of the 3 were born alive and in 1 case the couple opted for termination of pregnancy. Nineteen of the remaining 87 cases were born in units that used POS (hand and foot) and 4 of 19 screened positive. Of the remaining 83 cases, 46 were discharged undiagnosed (7 after nondiagnostic echocardiography), including 9 with a murmur and weak femoral pulses and 8 with a murmur and normal pulses. One was diagnosed postmortem after dying at home, and 22 of the remaining 45 discharged infants were in circulatory failure on readmission. Five of the patients who were not discharged died without surgery and undiagnosed CoA was the most probable cause of death in 2 of these patients.
The contribution of prenatal ultrasound screening and postnatal POS to the timely diagnosis of CoA was low. Careful physical examination of all newborns therefore continues to play a fundamental role in detecting this life-threatening cardiac defect, and better screening methods need to be developed.
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