Detection Of Congenital Heart Defects Research Articles

Clinical implementation of first trimester screening for congenital heart defects.

To examine the feasibility and performance of implementing a standardized fetal cardiac scan at the time of a routine first-trimester ultrasound scan. A retrospective, single-center study in an unselected population between March 2021 and July 2022. A standardized cardiac scan protocol consisting of a four-chamber and 3-vessel trachea view with color Doppler was implemented as part of the routine first-trimester scan. Sonographers were asked to categorize the fetal heart anatomy. Data were stratified into two groups based on the possibility of evaluating the fetal heart. The influence of maternal and fetal characteristics and the detection of major congenital heart disease were investigated. A total of 5083 fetuses were included. The fetal heart evaluation was completed in 84.9%. The proportion of successful scans increased throughout the study period from 76% in the first month to 92% in the last month. High maternal body mass index and early gestational age at scan significantly decreased the feasibility. The first-trimester detection of major congenital heart defects was 7/16, of which four cases were identified by the cardiac scan protocol with no false-positive cases. First-trimester evaluation of the fetal heart by a standardized scan protocol is feasible to implement in daily practice. It can contribute to the earlier detection of congenital heart defects at a very low false positive rate.

Fetal cardiac screening: 1st trimester and beyond.

Congenital heart defects (CHD) are the most common birth defect and a leading cause of infant morbidity and mortality. CHD often occurs in low-risk pregnant patients, which underscores the importance of routine fetal cardiac screening at the time of the 2nd trimester ultrasound. Prenatal diagnosis of CHD is important for counseling and decision-making, focused diagnostic testing, and optimal perinatal and delivery management. As a result, prenatal diagnosis has led to improved neonatal and infant outcomes. Updated fetal cardiac screening guidelines, coupled with technological advancements and educational efforts, have resulted in increased prenatal detection of CHD in both low- and high-risk populations. However, room for improvement remains. In recent years, fetal cardiac screening for specific high-risk populations has started in the 1st trimester, which is a trend that is likely to expand over time. This review discusses fetal cardiac screening throughout pregnancy.

Prenatal Diagnosis of Congenital Heart Disease: The Crucial Role of Perinatal and Delivery Planning.

Although most congenital heart defects (CHDs) are asymptomatic at birth, certain CHD lesions are at significant risk of severe hemodynamic instability and death if emergent cardiac interventions are not performed in a timely fashion. Therefore, accurate identification of at-risk fetuses and appropriate delivery resource planning according to the degree of anticipated hemodynamic instability is crucial. Fetal echocardiography has increased prenatal CHD detection in recent years due to advancements in ultrasound techniques and improved obstetrical cardiac screening protocols, enabling the prediction of newborns' hemodynamic status. This assessment can guide multidisciplinary resource planning for postnatal care, including selection of delivery site, delivery room management, and transport to a cardiac center based on CHD risk severity. This review will discuss fetal cardiovascular physiology and the circulatory changes that occur at the time of and immediately following birth, outline fetal echocardiographic findings used to risk-stratify newborns with CHDs, and outline principles for neonatal resuscitation and initial transitional care in neonates with these complex CHD lesions.

Cardiac Axis in Early Gestation and Congenital Heart Disease.

Congenital heart defects represent the most common structural anomalies observed in the fetal population, and they are often associated with significant morbidity and mortality. The fetal cardiac axis, which indicates the orientation of the heart in relation to the chest wall, is formed by the angle between the anteroposterior axis of the chest and the interventricular septum of the heart. Studies conducted during the first trimester have demonstrated promising outcomes with respect to the applicability of cardiac axis measurement in fetuses with congenital heart defects as well as fetuses with extracardiac and chromosomal anomalies, which may result in improved health outcomes and reduced healthcare costs. The main aim of this review article was to highlight the cardiac axis as a reliable and powerful marker for the detection of congenital heart defects during early gestation, including defects that would otherwise remain undetectable through the conventional four-chamber view.

Deep-learning model for prenatal congenital heart disease screening generalizes to community setting and outperforms clinical detection.

Despite nearly universal prenatal ultrasound screening programs, congenital heart defects (CHD) are still missed, which may result in severe morbidity or even death. Deep machine learning (DL) can automate image recognition from ultrasound. The main aim of this study was to assess the performance of a previously developed DL model, trained on images from a tertiary center, using fetal ultrasound images obtained during the second-trimester standard anomaly scan in a low-risk population. A secondary aim was to compare initial screening diagnosis, which made use of live imaging at the point-of-care, with diagnosis by clinicians evaluating only stored images. All pregnancies with isolated severe CHD in the Northwestern region of The Netherlands between 2015 and 2016 with available stored images were evaluated, as well as a sample of normal fetuses' examinations from the same region and time period. We compared the accuracy of the initial clinical diagnosis (made in real time with access to live imaging) with that of the model (which had only stored imaging available) and with the performance of three blinded human experts who had access only to the stored images (like the model). We analyzed performance according to ultrasound study characteristics, such as duration and quality (scored independently by investigators), number of stored images and availability of screening views. A total of 42 normal fetuses and 66 cases of isolated CHD at birth were analyzed. Of the abnormal cases, 31 were missed and 35 were detected at the time of the clinical anatomy scan (sensitivity, 53%). Model sensitivity and specificity were 91% and 78%, respectively. Blinded human experts (n = 3) achieved mean ± SD sensitivity and specificity of 55 ± 10% (range, 47-67%) and 71 ± 13% (range, 57-83%), respectively. There was a statistically significant difference in model correctness according to expert-graded image quality (P = 0.03). The abnormal cases included 19 lesions that the model had not encountered during its training; the model's performance in these cases (16/19 correct) was not statistically significantly different from that for previously encountered lesions (P = 0.41). A previously trained DL algorithm had higher sensitivity than initial clinical assessment in detecting CHD in a cohort in which over 50% of CHD cases were initially missed clinically. Notably, the DL algorithm performed well on community-acquired images in a low-risk population, including lesions to which it had not been exposed previously. Furthermore, when both the model and blinded human experts had access to only stored images and not the full range of images available to a clinician during a live scan, the model outperformed the human experts. Together, these findings support the proposition that use of DL models can improve prenatal detection of CHD. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

Patient-reported barriers to prenatal diagnosis of congenital heart defects: A mixed-methods study.

To ascertain patient-reported, modifiable barriers to prenatal diagnosis of congenital heart defects (CHDs). This was a mixed-methods study among caretakers of infants who received congenital heart surgery from 2019 to 2020 in the Chicagoland area. Quantitative variables measuring sociodemographic characteristics and prenatal care utilization, and qualitative data pertaining to patient-reported barriers to prenatal diagnosis were collected from electronic health records and semi-structured phone surveys. Thematic analysis was performed using a convergent parallel approach. In total, 160 caretakers completed the survey, 438 were eligible for survey, and 49 (31%) received prenatal care during the COVID-19 pandemic. When comparing respondents and non-respondents, there was a lower prevalence of maternal Hispanic ethnicity and a higher prevalence of non-English/Spanish-speaking households. Of all respondents, 34% reported an undetected CHD on ultrasound or echocardiogram, while 79% reported at least one barrier to prenatal diagnosis related to social determinants of health. Among those social barriers, the most common were difficulty with appointment scheduling (n=12, 9.5%), far distance to care/lack of access to transportation (n=12, 9.5%) and difficulty getting time off work to attend appointments (n=6, 4.8%). The latter two barriers were correlated. While technical improvements in the detection of CHDs remain an important area of research, it is equally critical to produce evidence for interventions that mitigate barriers to prenatal diagnosis due to social determinants of health.

Left atrial strain in fetal echocardiography- could it be introduced to everyday clinical practice?

Prenatal cardiology is a part of preventive cardiology based on fetal echocardiography and fetal interventional cardiology, which facilitates treatment of congenital heart defects (CHD) in pediatric patients and consequently in adults. Timely prenatal detection of CHD plays a pivotal role in facilitating the appropriate referral of pregnant women to facilities equipped to provide thorough perinatal care within the framework of a well-structured healthcare system. The aim of this paper is to highlight the role of left atrial strain (LAS) in prenatal evaluation of fetal heart and prediction of structural and functional disorders. We conducted a comprehensive literature review searching PubMed for articles published from inception up until August 2023, including the search terms "left atrial strain", "fetal echocardiography", and "prenatal cardiology" combined through Boolean operators. In addition, references lists of identified articles were further reviewed for inclusion. Our review underscores the significance of LAS parameters in fetal echocardiography as a screening tool during specific gestational windows (starting from 11 to 14 weeks of gestation, followed by better visualization between 18 and 22 weeks of gestation). The left atrial strain technique and its parameters serve as valuable indicators, not only for identifying cardiac complications but also for predicting and guiding therapeutic interventions in cases of both cardiac and noncardiac pregnancy complications in fetuses. Evidence suggests establishment of second-trimester reference strain and strain rate values by speckle-tracking echocardiography in the healthy fetal cohort is essential for the evaluation of myocardial pathologies during pregnancy. Finding of LAS of fetal heart is feasible and probably can have potential for clinical and prognostic implications.

The Value of Fetal Echocardiography for Early Detection of Congenital Heart Defects: A Report of our Experience in a Great Referral Heart Center in Iran

Background: Prenatal diagnosis of cardiac defects in fetus is of paramount importance to enable a better monitoring of heart defects and to allow planning a proper management. We reported our experience on fetal heart echocardiography in a great referral heart center in Iran with the approach to assessment of the diagnostic value of this tool for detecting Congenital Heart Diseases (CHDs). Methods: This retrospective cohort study included 234 pregnant women attended at a great referral heart center in Tehran, Iran between 2012 and 2016 for heart abnormalities screening. All women were evaluated by trans-abdominal fetal echocardiography from 12 weeks of gestation to term and after birth. Results: Fetal echocardiography showed different types of CHDs in 5.9%. CHDs detected in 9.9% of neonates by echocardiography after birth. The most common heart abnormalities detected was VSD in 4.3%. Considering echocardiography findings after birth as the reference, fetal echocardiography had a sensitivity of 92.8%, a specificity of 66.6%, a positive predictive value of 59.8%, a negative predictive value of 86.6%, and an accuracy of 84.1% for detection of heart defects. Conclusion: Fetal heart echocardiography is a sensitive tool for detection of CHDs, but its specificity is moderate.

Pregnancy Termination and Postnatal Major Congenital Heart Defect Prevalence After Introduction of Prenatal Cardiac Screening

Prenatal cardiac screening of the first and second trimesters has had a major impact on postnatal prevalence of congenital heart defects (CHDs), rates of termination of pregnancy (TOP), and outcomes among children born alive with CHDs. To examine the prenatal and postnatal incidence of major CHDs (ie, necessitating intervention within the first year of life), detection rate trends, rates of TOP, and the association of cardiac screening with postnatal outcomes. In this cross-sectional study, 3827 fetuses with antenatally diagnosed major CHDs in the Czech Republic (population 10.7 million) between 1991 and 2021 were prospectively evaluated with known outcomes and associated comorbidities. Prenatal and postnatal prevalence of CHD in an unselected population was assessed by comparison with a retrospective analysis of all children born alive with major CHDs in the same period (5454 children), using national data registry. Data analysis was conducted from January 1991 to December 2021. Prenatal detection and postnatal prevalence of major CHDs and rate of TOPs in a setting with a centralized health care system over 31 years. A total of 3 300 068 children were born alive during the study period. Major CHD was diagnosed in 3827 fetuses, of whom 1646 (43.0%) were born, 2069 (54.1%) resulted in TOP, and 112 (2.9%) died prenatally. The prenatal detection rate increased from 6.2% in 1991 to 82.8% in 2021 (P < .001). Termination of pregnancy decreased from 70% in 1991 to 43% (P < .001) in 2021. Of 627 fetuses diagnosed in the first trimester (introduced in 2007), 460 were terminated (73.3%). Since 2007, of 2066 fetuses diagnosed in the second trimester, 880 (42.6%) were terminated, resulting in an odds ratio of 3.6 (95% CI, 2.8-4.6; P < .001) for TOP in the first trimester compared with the second trimester. Postnatal prevalence of major CHDs declined from 0.21% to 0.14% (P < .001). The total incidence (combining prenatal detection of terminated fetuses with postnatal prevalence) of major CHD remained at 0.23% during the study period. In this cross-sectional study, the total incidence of major CHD did not change significantly during the 31-year study period. The prenatal detection of major CHD approached 83% in the current era. Postnatal prevalence of major CHD decreased significantly due to early TOPs and intrauterine deaths. The introduction of first trimester screening resulted in a higher termination rate in the first trimester but did not revert the overall decreasing trend of termination for CHDs in general.

Cell-Free DNA in Maternal Blood and Artificial Intelligence: Accurate Prenatal Detection of Fetal Congenital Heart Defects

(Abstracted from Am J Obstet Gynecol 2023;228(1):76.e1–76.e10) Congenital heart defects (CHDs) are one of the leading causes of child morbidity and mortality. Previous research has shown that prenatal detection of CHD can significantly reduce the risk of death for severe cases, yet the current techniques available for prenatal diagnosis detect approximately only half of cases.

Evaluation of the heart sounds in children using a Doppler Phonolyser

BackgroundHeart auscultation is an easy and inexpensive tool for early diagnosis of congenital heart defects. In this regard, a simple device which can be used easily by physicians for heart murmur detection will be very useful. The current study was conducted to evaluate the validity of a Doppler-based device named “Doppler Phonolyser” for the diagnosis of structural heart diseases in pediatric patients. In this cross-sectional study, 1272 patients under 16 years who were referred between April 2021 and February 2022, to a pediatric cardiology clinic in Mofid Children Hospital, Tehran, Iran, were enrolled. All the patients were examined by a single experienced pediatric cardiologist using a conventional stethoscope at the first step and a Doppler Phonolyser device at the second step. Afterward, the patient underwent trans-thoracic echocardiography, and the echocardiogram results were compared with the conventional stethoscope as well as the Doppler Phonolyser findings.ResultsSensitivity of the Doppler Phonolyser for detecting congenital heart defects was 90.5%. The specificity of the Doppler Phonolyser in detecting heart disease was 68.9% in compared with the specificity of the conventional stethoscope, which was 94.8%. Among the most common congenital heart defects in our study population, the sensitivity of the Doppler Phonolyser was 100% for detection of tetralogy of Fallot (TOF); In contrast, sensitivity of both the conventional stethoscope and the Doppler Phonolyser was relatively low for detecting atrial septal defect.ConclusionsDoppler Phonolyser could be useful as a diagnostic tool for the detection of congenital heart defects. The main advantages of the Doppler Phonolyser over the conventional stethoscope are no need for operator experience, the ability to distinguish innocent murmurs from the pathologic ones and no effect of environmental sounds on the performance of the device.

Incidence and Risk Factors of Congenital Heart Diseases in Syndromic Neonates

Congenital heart defects (CHD) are the most common types of major birth defects, leading cause of infant morbidity and mortality. Syndromic babies are more affected by CHD. This observational study was conducted in a tertiary care hospital of military facility in Bangladesh. Eighty syndromic neonates were studied through history, physical examination and investigated for incidence and risk factors for CHD. Out of 80 syndromic neonates 61(76.3%) were found having CHD. Male female ratio was 1.18:1. Average age at diagnosis was 25±1.6 days of age. Down Syndrome (DS) and Congenital Rubella Syndrome (CRS) were the most common syndromes. Ventricular Septal defect (VSD) and Atrial septal defect (ASD) II were the most common CHD. Consanguinity, extracardiac malformations, maternal illness (HTN, DM, Hypothyroidism etc.), both fertility and non-fertility medication are also found to be associated with CHD in Syndromic neonates. CHDs have serious implications and it is important to understand them and how they may affect the child so that appropriate medical and surgical treatment may be provided. So, early detection of CHD in neonate will be able to decrease morbidity as well as mortality. CBMJ 2023 January: Vol. 12 No. 01 P: 17-21

Abstract 10468: International Classification of Diseases (ICD) Codes for Congenital Heart Defects (CHD) Have Variable and Limited Accuracy for Detecting CHD Cases

Introduction: Administrative data permit analysis of large cohorts but rely on ICD-9-CM and ICD-10-CM billing codes that may not accurately identify CHD cases. Variables that may improve accuracy are unknown, yet improved accuracy will improve CHD surveillance. Methods: We validated 1500 cases with an encounter between 1/1/2010 - 12/31/2019 identified by at least one of 90 CHD codes (41 ICD-9-CM, 49 ICD-10-CM) in 2 healthcare systems (1 adult, 1 pediatric), through medical record review and chart abstraction for presence of a CHD. Inter- and intra-observer reliability exceeded 93%. Results: Positive predictive value (PPV) of ICD codes for CHD (Figure 1) was 68.0% (1020/1500) overall, 95.7% (247/258) for severe codes, 52.8% (371/703) for shunt codes, 75.2% (243/323) for valve codes, 73.2% (120/164) for shunt and valve codes, and 75.0% (39/52) for a select group of 7 codes in ‘other’ category. PPV for cases with &gt; 1 unique CHD code was 73.1% (920/1259) vs. 41.5% (100/241) for cases with only 1 unique CHD code. Characteristics of cases with and without CHD are in Table 1. ICD code 745.5/Q21.1 in isolation was present in 2.2% of cases with confirmed CHD vs. 19.4% of cases without CHD (p&lt; 0.0001). Median number of encounters with a CHD code was higher in cases with CHD (6) vs. without CHD (2), p&lt; 0.0001. Patent foramen ovale was present in 65.8% of false positives (316/480). Conclusion: There is significant variability in the PPV of individual and groups of CHD codes for detection of CHD. The presence of a code for severe CHD is associated with high PPV for true CHD. Use of administrative data for CHD surveillance may require the development of algorithms to improve the accuracy of case detection.

The electrical heart axis in fetuses with congenital heart disease, measured with non-invasive fetal electrocardiography.

ObjectivesTo determine if the electrical heart axis in different types of congenital heart defects (CHD) differs from that of a healthy cohort at mid-gestation.MethodsNon-invasive fetal electrocardiography (NI-fECG) was performed in singleton pregnancies with suspected CHD between 16 and 30 weeks of gestation. The mean electrical heart axis (MEHA) was determined from the fetal vectorcardiogram after correction for fetal orientation. Descriptive statistics were used to determine the MEHA with corresponding 95% confidence intervals (CI) in the frontal plane of all fetuses with CHD and the following subgroups: conotruncal anomalies (CTA), atrioventricular septal defects (AVSD) and hypoplastic right heart syndrome (HRHS). The MEHA of the CHD fetuses as well as the subgroups was compared to the healthy control group using a spherically projected multivariate linear regression analysis. Discriminant analysis was applied to calculate the sensitivity and specificity of the electrical heart axis for CHD detection.ResultsThe MEHA was determined in 127 fetuses. The MEHA was 83.0° (95% CI: 6.7°; 159.3°) in the total CHD group, and not significantly different from the control group (122.7° (95% CI: 101.7°; 143.6°). The MEHA was 105.6° (95% CI: 46.8°; 164.4°) in the CTA group (n = 54), -27.4° (95% CI: -118.6°; 63.9°) in the AVSD group (n = 9) and 26.0° (95% CI: -34.1°; 86.1°) in the HRHS group (n = 5). The MEHA of the AVSD and the HRHS subgroups were significantly different from the control group (resp. p = 0.04 and p = 0.02).The sensitivity and specificity of the MEHA for the diagnosis of CHD was 50.6% (95% CI 47.5% - 53.7%) and 60.1% (95% CI 57.1% - 63.1%) respectively.ConclusionThe MEHA alone does not discriminate between healthy fetuses and fetuses with CHD. However, the left-oriented electrical heart axis in fetuses with AVSD and HRHS was significantly different from the control group suggesting altered cardiac conduction along with the structural defect.Trial registrationClinical trial registration number: NL48535.015.14.

Impact of prenatally diagnosed congenital heart defects on outcomes and management.

Fetal echocardiogram aids in prenatal identification of neonates at high risk for congenital heart defects (CHD). Prenatal detection rates for CHD have increased with improved ultrasound technology, the use of the early fetal echocardiography, and standardization of the performance of the fetal echocardiogram. Accurate prenatal detection of CHD, particularly complex CHD, is an important contributor to improved survival rates for patients with CHD. Early detection allows for families to choose whether or not to continue with pregnancy, referral to pediatric cardiology specialists for patient education, and delivery planning. Better psychosocial supports are needed for families with CHD.

Eisenmenger Syndrome Among Children with Unrepaired Congenital Heart Defects in Yunnan, China.

Eisenmenger syndrome is a life-threatening complication of congenital heart defects (CHD). Since Eisenmenger syndrome among children of repaired CHD is rare, very few studies have had the necessary data to investigate its distribution in children. The current study used data collected in rural China to investigate the prevalence of Eisenmenger syndrome in children with unrepaired CHD. Data were from the 2006 to 2016 patient medical records of China California Heart Watch, which is a traveling cardiology clinic in Yunnan Province, China. Patients were included if they (1) aged 18 or below, (2) had CHD(s), and (3) the defect was not repaired by the time of the clinic visit. The prevalence of Eisenmenger syndrome was calculated in each age and defect group. Using logistic regression models, we tested whether oxygen saturation, Down syndrome, sex, and age were significantly associated with Eisenmenger syndrome. Of the 1301 study participants, ventricular septum defect (VSD), atrial septal defect (ASD), and patent ductus arteriosus (PDA) were the most common CHD. About one-sixth of the patients had pulmonary hypertension and 1.5% had Eisenmenger syndrome. The percentages of Eisenmenger syndrome were 1.8% in VSD patients, 0 in ASD patients, and 0.9% in PDA patients. Patients in the age group between 15 and 18years had the highest percentages of Eisenmenger syndrome (11.5%). Age and presence of Down syndrome were significantly associated with the presence of Eisenmenger syndrome. Our finding highlights the importance of early detection and correction of CHD.

Deep Learning-Based Computer-Aided Fetal Echocardiography: Application to Heart Standard View Segmentation for Congenital Heart Defects Detection.

Accurate segmentation of fetal heart in echocardiography images is essential for detecting the structural abnormalities such as congenital heart defects (CHDs). Due to the wide variations attributed to different factors, such as maternal obesity, abdominal scars, amniotic fluid volume, and great vessel connections, this process is still a challenging problem. CHDs detection with expertise in general are substandard; the accuracy of measurements remains highly dependent on humans’ training, skills, and experience. To make such a process automatic, this study proposes deep learning-based computer-aided fetal heart echocardiography examinations with an instance segmentation approach, which inherently segments the four standard heart views and detects the defect simultaneously. We conducted several experiments with 1149 fetal heart images for predicting 24 objects, including four shapes of fetal heart standard views, 17 objects of heart-chambers in each view, and three cases of congenital heart defect. The result showed that the proposed model performed satisfactory performance for standard views segmentation, with a 79.97% intersection over union and 89.70% Dice coefficient similarity. It also performed well in the CHDs detection, with mean average precision around 98.30% for intra-patient variation and 82.42% for inter-patient variation. We believe that automatic segmentation and detection techniques could make an important contribution toward improving congenital heart disease diagnosis rates.

Evaluation of Second-Trimester Maternal Serum AFP Value in the Detection of Congenital Heart Defects

Background: Congenital heart diseases, as the most common congenital anomaly, are a major cause of serious morbidity and mortality. Objectives: This study aimed to evaluate the level of alpha-fetoprotein in the second trimester of pregnancy and its association with congenital heart defects. Methods: Following a cross-sectional design, singleton pregnant women in the second-trimester were enrolled for the α-fetoprotein (AFP) screening test. Those with normal screening results at the first and second tests were assigned to the control group. Mothers with nuchal translucency (NT) screening equal or greater than 3% of the 99th percentile, without chromosomal anomalies, confirmed with amniocentesis, were referred for a fetal echocardiogram and in presence of congenital heart defects symptoms, assigned to the intervention group. The study groups were compared concerning the serum AFP level and maternal and neonatal outcomes in the second trimester of pregnancy. Statistical significance was considered when P-value &lt; 0.05. Results: A total of 270 women were enrolled in the study, with a mean AFP level of 1.868 ± 0.87 and 1.374 ± 0.39 in the case and control groups, respectively. The mean level of AFP was significantly different between the two groups (P &lt; 0.001). In the second trimester, an AFP level lower than 1 was associated with a significant increase in the likelihood of developing congenital heart anomalies in the fetus. Conclusions: This study demonstrated that the value of maternal AFP level in the second trimester can be considered as an appropriate screening test to predict the incidence of congenital heart defects in neonates.

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.

Prenatal detection of congenital heart disease - results of a Swedish screening program 2013\u20132017

BackgroundThis 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.MethodsRetrospective 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.Results113 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.Conclusions56% 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.