Detection Of Major Congenital Heart Defects Research Articles

Impact of pulse oximetry screening to detect congenital heart defects: 5\xa0years\u2019 experience in a UK regional neonatal unit

Pulse oximetry screening (POS) has been shown to be an effective, non-invasive investigation that can detect up to 50–70% of previously undiagnosed congenital heart defects (CHDs). The aims of this study were to assess the accuracy of POS in detection of CHDs and its impact on clinical practice. All eligible newborn infants born between 1 Jan 2015 and 31 Dec 2019 in a busy regional neonatal unit were included in this prospective observational study. A positive POS was classified as two separate measurements of oxygen saturation < 95%, or a difference of > 2% between pre- and post-ductal circulations. Overall, 23,614 infants had documented POS results. One hundred eighty nine (0.8%) infants had a true positive result: 6 had critical CHDs, 9 serious or significant CHDs, and a further 156/189 (83%) infants had significant non-cardiac conditions. Forty-three infants who had a normal POS were later diagnosed with the following categories of CHDs post-hospital discharge: 1 critical, 15 serious, 20 significant and 7 non-significant CHDs. POS sensitivity for detection of critical CHD was 85.7%, whereas sensitivity was only 33% for detection of major CHDs (critical and serious) needing surgery during infancy; specificity was 99.3%.Conclusion: Pulse oximetry screening showed moderate to high sensitivity in detection of undiagnosed critical CHDs; however, it failed to detect two-third of major CHDs. Our study further emphasises the significance of adopting routine POS to detect critical CHDs in the clinical practice. However, it also highlights the need to develop new, innovative methods, such as perfusion index, to detect other major CHDs missed by current screening tools.What is Known:• Pulse oximetry screening is cost effective, acceptable, easy to perform and has moderate sensitivity and high specificity in detection of critical congenital heart defects.• Pulse oximetry screening has been implemented many countries including USA for detection of critical congenital heart defects, but it is not currently recommended by the UK National Screening Committee.What is New:• To our knowledge, this is the first study describing postnatal detection and presentation of all the infants with congenital heart defects over a period of 5 years, including those not detected on the pulse oximetry screening, on the clinical practice. • It emphasises that further research required to detect critical congenital heart defects and other major CHDs which can be missed on the screening tools currently employed in clinical practice.

Role of Pulse Oximetry Screening for Detection of Life Threatening Congenital Heart Detects in Newborn

Most ofnewborns with Congenital Heart Defects (CHDs) can be detected by using echocardiography. However, if such defects are not diagnosed in earlier time, therefore a severe hypoxemia, shock, acidosis and death are considered of some potential sequelae. A prospective study from January 2012 to the end of 2013 was performed and 2181 neonates were enrolled in the study. The pulse oximetry screening (POS) for both hands and one foot were obtained within the first 3-6 hours of life, when post ductal saturation was below 90%, it was considered as a positive screening, while when the saturation is between 90-95% and the difference between pre-and post-ductal saturation was more than 3%, the baby was provisionally considered to be screening as a positive then echocardiography is planned. Among 100 positive POS babies, 45 (45%) of them were detected with CHS, 12 (12%) was with a major CHS and 33 (33%) was with a minor CHS. Out of 12 patients with a major CHD 6 of them (50%) were asymptomatic at the time of POS.POS result was a true negative in 2078 patients, a true positive in 45 patients, false negative in 3 patients, and false positive in 55 and 28/55 of the false positive rate with POS had other pathology. The false positive rate with pulse oximetry screening is (55/2081) = 0.26%. Sensitivity, specificity, positive and negative predictive value for POS in detection of major CHD were 80%, 97.29%, 17.9% and 99.80%, respectively. Pulse oximetry screening is significantly improving the detection of life threatening congenital heart disease at an early stage.

Fetal heart defects: Potential and pitfalls of first-trimester detection

Congenital heart defects (CHDs) are the leading cause of infant mortality due to birth defects. In the last 15 years, with the shift in screening for aneuploidies to the first trimester, extensive research has concentrated on early screening and detection of CHDs. Early detailed assessment of the fetal heart requires a high level of expertise in early anomaly scanning and fetal echocardiography. However, the detection of major CHDs at 11-13 weeks is influenced by their association with easily detectable markers, such as the nuchal translucency, ductus venosus blood flow and tricuspid regurgitation, and a policy decision as to the objectives of this scan and the allocation of resources necessary to achieve them. The use of transvaginal ultrasound and newer techniques are likely to improve the detection rate. However, the limitations of fetal echocardiography in the first trimester must be borne in mind, and follow-up at mid-gestational echocardiography is prudent in some cases.

Pulse oximetry as a screening test for congenital heart defects in newborn infants: a test accuracy study with evaluation of acceptability and cost-effectiveness.

Screening for congenital heart defects (CHDs) relies on antenatal ultrasound and postnatal clinical examination; however, life-threatening defects often go undetected. To determine the accuracy, acceptability and cost-effectiveness of pulse oximetry as a screening test for CHDs in newborn infants. A test accuracy study determined the accuracy of pulse oximetry. Acceptability of testing to parents was evaluated through a questionnaire, and to staff through focus groups. A decision-analytic model was constructed to assess cost-effectiveness. Six UK maternity units. These were 20,055 asymptomatic newborns at ≥ 35 weeks' gestation, their mothers and health-care staff. Pulse oximetry was performed prior to discharge from hospital and the results of this index test were compared with a composite reference standard (echocardiography, clinical follow-up and follow-up through interrogation of clinical databases). Detection of major CHDs - defined as causing death or requiring invasive intervention up to 12 months of age (subdivided into critical CHDs causing death or intervention before 28 days, and serious CHDs causing death or intervention between 1 and 12 months of age); acceptability of testing to parents and staff; and the cost-effectiveness in terms of cost per timely diagnosis. Fifty-three of the 20,055 babies screened had a major CHD (24 critical and 29 serious), a prevalence of 2.6 per 1000 live births. Pulse oximetry had a sensitivity of 75.0% [95% confidence interval (CI) 53.3% to 90.2%] for critical cases and 49.1% (95% CI 35.1% to 63.2%) for all major CHDs. When 23 cases were excluded, in which a CHD was already suspected following antenatal ultrasound, pulse oximetry had a sensitivity of 58.3% (95% CI 27.7% to 84.8%) for critical cases (12 babies) and 28.6% (95% CI 14.6% to 46.3%) for all major CHDs (35 babies). False-positive (FP) results occurred in 1 in 119 babies (0.84%) without major CHDs (specificity 99.2%, 95% CI 99.0% to 99.3%). However, of the 169 FPs, there were six cases of significant but not major CHDs and 40 cases of respiratory or infective illness requiring medical intervention. The prevalence of major CHDs in babies with normal pulse oximetry was 1.4 (95% CI 0.9 to 2.0) per 1000 live births, as 27 babies with major CHDs (6 critical and 21 serious) were missed. Parent and staff participants were predominantly satisfied with screening, perceiving it as an important test to detect ill babies. There was no evidence that mothers given FP results were more anxious after participating than those given true-negative results, although they were less satisfied with the test. White British/Irish mothers were more likely to participate in the study, and were less anxious and more satisfied than those of other ethnicities. The incremental cost-effectiveness ratio of pulse oximetry plus clinical examination compared with examination alone is approximately £24,900 per timely diagnosis in a population in which antenatal screening for CHDs already exists. Pulse oximetry is a simple, safe, feasible test that is acceptable to parents and staff and adds value to existing screening. It is likely to identify cases of critical CHDs that would otherwise go undetected. It is also likely to be cost-effective given current acceptable thresholds. The detection of other pathologies, such as significant CHDs and respiratory and infective illnesses, is an additional advantage. Other pulse oximetry techniques, such as perfusion index, may enhance detection of aortic obstructive lesions. The National Institute for Health Research Health Technology programme.

Pulse oximetry as a screening test for congenital heart defects in newborn infants: the pulseox test accuracy study

BackgroundLife-threatening congenital heart defects (CHD) often go undetected. This prospective study assessed the accuracy of pulse oximetry as a screening test for CHD.MethodsPulse oximetry was performed in asymptomatic newborns >34...

Prenatal Detection of Congenital Heart Defects: A Survey on Clinical Practice in Spain

Introduction: Second-trimester fetal screening for congenital heart defects (CHD) included in routine obstetric care provides relevant information for decision making. The aim of this study was to describe the clinical practice of prenatal detection of CHD in terms of the process and results. Methods: The characteristics and results of ultrasound screening for major CHD were documented using data provided by hospitals for a national survey in Spain over the period of 2004–2006. Sixty-seven percent of eligible centers (56/83), covering 36% of total births nationwide, responded to the survey; 33 of these returned complete data regarding the screening results. Results: The number of major CHD occurring in the centers which provided data with results of screening was 1,060. The overall prenatal detection rate of major CHD was 65.7% (95% CI 57.8–74.7), but the detection rate in the routine second-trimester scan was 52.6% (95% CI 45.6–60.8). In 61% of these cases the parents chose to terminate the pregnancy. Two independent predictors of increased detection by center were identified: first, the uniformity and systematic character of the examination of the heart showing at least the 4-chamber view and outflow tracts (prevalence ratio 1.3, 95% CI 1.0–1.8) and second, the local availability of specialists in fetal echocardiography (prevalence ratio 1.4, 95% CI 1.1–1.9). Conclusions: The detection of major CHD in the first half of pregnancy has an important impact on parental decision making. The prenatal screening program for CHD should be globally strengthened in terms of qualifications and methodological approaches. To improve its performance locally, close collaboration with fetal heart specialists should be promoted.