Screening For 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.

The Current Strategy in Managing Congenital and Structural Heart Disease: Find and Treat Them Appropriately

Significant progress has been made in diagnosing and treating congenital heart defects (CHDs) over the past five decades. Notable advancements include pulse oximetry screening for critical CHDs in newborns and percutaneous, catheter-based procedures, improving outcomes even in developing nations. Recent studies demonstrate favorable outcomes with device closure of acyanotic CHDs, with non-fluoroscopy techniques adopted to minimize radiation risks. Positive results are observed with right ventricular outflow tract (RVOT) stent palliation for late-presenting cyanotic congenital heart diseases such as tetralogy of Fallot (TOF). Novel interventions like reverse Potts shunt anastomosis show promise in managing pediatric pulmonary arterial hypertension (PAH), while prophylactic treatments effectively reduce postoperative arrhythmias. Fontan procedure significantly enhances survival rates for individuals with single functional ventricles, although challenges arise with aging populations. In developed countries, fetal cardiac interventions utilizing advanced imaging techniques allow for early detection and preventive interventions, reducing secondary complications. Keyword: Fetal Intervention, Fontan, Non-Fluoroscopy, Percutaneous, Reverse Potts, Rheumatic Heart Disease, RVOT Stenting.

Nuchal Translucency and Congenital Heart Defects.

Nuchal translucency comprises a temporary accumulation of fluid in the subcutaneous tissue on the back of a fetus's neck, which accompanies the crown-rump length and is observed through an ultrasound performed between 11 and 13 weeks + 6 days gestation. Nuchal translucency is considered to be above normal when values are higher than the 95th/99th percentile or equal to or higher than 2.5/3.5 mm. The first connection between increased nuchal translucency and the presence of congenital heart defects is described in the study of Hyett et al., who observed that they are directly proportional. Since that time, several studies have been conducted to understand if nuchal translucency measurements can be used for congenital heart defect screening in euploid fetuses. However, there is great variability in the estimated nuchal translucency cutoff values for congenital heart defect detection. The purpose of this review was to understand how increased nuchal translucency values and congenital heart defects are related and to identify which of these defects are more frequently associated with an increase in these values.

DPC-MSGATNet: dual-path chain multi-scale gated axial-transformer network for four-chamber view segmentation in fetal echocardiography

Echocardiography is essential in evaluating fetal cardiac anatomical structures and functions when clinicians conduct early treatment and screening for congenital heart defects, a common and intricate fetal malformation. Nevertheless, the prenatal detection rate of fetal CHD remains low since the peculiarities of fetal cardiac structures and the variousness of fetal CHD. Precisely segmenting four cardiac chambers can assist clinicians in analyzing cardiac morphology and further facilitate CHD diagnosis. Hence, we design a dual-path chain multi-scale gated axial-transformer network (DPC-MSGATNet) that simultaneously models global dependencies and local visual cues for fetal ultrasound (US) four-chamber (FC) views and further accurately segments four chambers. Our DPC-MSGATNet includes a global and a local branch that simultaneously operates on an entire FC view and image patches to learn multi-scale representations. We design a plug-and-play module, Interactive dual-path chain gated axial-transformer (IDPCGAT), to enhance the interactions between global and local branches. In IDPCGAT, the multi-scale representations from the two branches can complement each other, capturing the same region’s salient features and suppressing feature responses to maintain only the activations associated with specific targets. Extensive experiments demonstrate that the DPC-MSGATNet exceeds seven state-of-the-art convolution- and transformer-based methods by a large margin in terms of F1 and IoU scores on our fetal FC view dataset, achieving a F1 score of 96.87% and an IoU score of 93.99%. The codes and datasets can be available at https://github.comQiaoSiBo/DPC-MSGATNet.

Prevalence and Trends of Birth Defects - Five Counties, Shanxi Province, China, 2003-2022.

The Shanxi Province, located in northern China, holds the highest prevalence of birth defects (BDs) across the country. Following the implementation of a nationwide folic acid supplementation program in 2009, a significant reduction of 53.89% in the prevalence of neural tube defects (NTDs) was observed in Shanxi from 2012 to 2017. However, despite this decrease, the prevalence rate for congenital heart defects (CHDs) in 2017 was over four times that of the 2012 rate. Since 2014, CHDs have emerged as the most predominant BD in Shanxi. The present study has identified a marked reduction in the prevalence of both total BDs and NTDs in five counties within Shanxi over the past two decades. As of 2017-2022, NTDs continue to be the most prevalent BDs recorded in this region. Contrarily, there has been a noteworthy increase in the prevalence of CHDs, ranking them among the top five most common BDs in the region between 2017 and 2022, though their rate remains below the national average. Additionally, the proportion of external anomalies remains high. Nevertheless, due to constrained access to primary healthcare services and diagnostic facilities, the early detection rate for internal anomalies, particularly CHDs, may be underestimated in the region. The results of this study underscore the necessity for augmented efforts in promoting folic acid supplementation as a preventive measure for NTDs. Moreover, improvements in the distribution of medical resources within this region are recommended, particularly the introduction and enforcement of local training programs aimed at enhancing CHD screening and diagnostic processes in these respective counties.

Prevalence and Clustering of Congenital Heart Defects Among Boys With Hypospadias

Hypospadias is a common birth defect of the male urinary tract that may be isolated or may co-occur with other structural malformations, including congenital heart defects (CHDs). The risk for co-occurring CHDs among boys with hypospadias remains unknown, which limits screening and genetic testing strategies. To characterize the risk of major CHDs among boys born with hypospadias. This retrospective cohort study used data from population-based birth defect surveillance programs on all male infants born in 11 US states from January 1, 1995, to December 31, 2014. Statistical analysis was performed from September 2, 2020, to March 25, 2022. Hypospadias. Demographic and diagnostic data were obtained from 2 active state-based birth defect surveillance programs for primary analyses, the Texas Birth Defects Registry and the Arkansas Reproductive Health Monitoring System, with validation among 9 additional states in the National Birth Defects Prevention Network (NBDPN). Birth defect diagnoses were identified using the British Pediatric Association coding for hypospadias (exposure) and major CHDs (primary outcomes). Maternal covariates and birth year were also abstracted from the vital records. Poisson regression was used to estimate adjusted prevalence ratios and 95% CIs for major CHDs within Texas and Arkansas and combined using inverse variance-weighted meta-analysis. Findings were validated using the NBDPN. Among 3.7 million pregnancies in Texas and Arkansas, 1485 boys had hypospadias and a co-occurring CHD. Boys with hypospadias were 5.8 times (95% CI, 5.5-6.1) more likely to have a co-occurring CHD compared with boys without hypospadias. Associations were observed for every specific CHD analyzed among boys with hypospadias, occurred outside of chromosomal anomalies, and were validated in the NBDPN. An estimated 7.024% (95% CI, 7.020%-7.028%) of boys with hypospadias in Texas and 5.503% (95% CI, 5.495%-5.511%) of boys with hypospadias in Arkansas have a co-occurring CHD. In addition, hypospadias severity and maternal race and ethnicity were independently associated with the likelihood for hypospadias to co-occur with a CHD; boys in Texas with third-degree (ie, more severe) hypospadias were 2.7 times (95% CI, 2.2-3.4) more likely than boys with first-degree hypospadias to have a co-occurring CHD, with consistent estimates in Arkansas (odds ratio, 2.7; 95% CI, 1.4-5.3), and boys with hypospadias born to Hispanic mothers in Texas were 1.5 times (95% CI, 1.3-1.8) more likely to have a co-occurring CHD than boys with hypospadias born to non-Hispanic White mothers. In this cohort study, boys with hypospadias had a higher prevalence of CHDs than boys without hypospadias. These findings support the need for consideration of additional CHD screening programs for boys born with hypospadias.

Pulse Oximetry and Perfusion Index Screening for Congenital Heart Defects: A Systematic Review and Meta-analysis.

Congenital heart defects (CHDs) are the most common neonatal malformations and are a leading cause of infant death in developed countries. Finding safe and effective diagnostic methods to screen for CHDs is important. The aim of this study was to evaluate the effectiveness of pulse oximetry (PO) and perfusion index (PI) in screening CHD. We conducted a systematic review of studies in PubMed, Embase, and the Cochrane Library published on or before October 1, 2021. Studies based on PICOS were included in this systematic review. The flow chart is made by PRISMA software. The quality of included studies was assessed by RevMan5 software (QUADAS-2: Quality Assessment of Diagnostic Accuracy Studies-2). The sensitivity, specificity, and other measurements of accuracy were pooled using Stata/SE 12.0 software. Five studies containing 46,965 neonates were included in this study. A randomized-effects model was used for the meta-analysis because of significant heterogeneity. The combined sensitivity and specificity were 0.82 (95% confidence interval [CI], 0.53-0.95) and 0.97 (95% CI, 0.57-1.00), respectively. The area under the curve was 0.92 (95% CI, 0.89-0.94). The combination PO and PI was significant in CHD screening. Once diagnosed by the combined method, it means that the neonate is most likely to have a CHD. KEY POINTS: · Pulse oximetry and PI screening.. · Congenital heart defects.. · A systematic review and meta-analysis..

Value of Flexible Nano-Sensor with Carbon Nanotube and Graphene in Ultrasound Screening of Congenital Heart Malformations in Early Pregnancy

This study aimed to explore the application value of flexible nano-sensors with carbon nanotube (CNT) and graphene (Gr) in the ultrasound screening of congenital heart defects (CHD) in early pregnancy. The change of the sensitivity strain factor, mechanical properties, and resistance changes of the flexible nanosensor were analysed under different strains. The prenatal ultrasound diagnosis of early pregnancy 2640 pregnant women was selected as the research object. The nuchal translucency (NT) thickening value, blood flow spectrum of ductus venosus (DV), ductus venosus a (DVa) wave, and tricuspid regurgitation (TR) were measured under the ultrasound diagnosis. In addition, the sensitivity and specificity of different indicators in screening the cardiac malformations were compared. It was found that when the volume ratio of CNT:Gr was 1:5, the initial resistance of the sensor was the smallest; the resistance of the sensor was 2.75 KΩ˜4.68 KΩ when the strain was 1%; and the maximum frequency of the sensor was 0.25. NT+TR+DVa wave (DVa) combined diagnosis detected 8 cases of CHD, the sensitivity and specificity were 80% and 96.48%, respectively. The sensitivity of combined diagnosis of NT+TR+DVa was greatly higher than that of NT, DV and TR alone. It indicated that the flexible nano sensor based on CNT and Gr in this study showed good stability and durability, and high sensitivity in the diagnosis of fetal structure and cardiac malformations, which can provide reference value for the screening of fetal diseases in early pregnancy.

Accuracy of the Standardized Early Fetal Heart Assessment in Excluding Major Congenital Heart Defects in High-Risk Population: A Single-Center Experience.

To evaluate the ability of standardized early fetal heart assessment (EFHA) that includes the 4-chamber view, outflow tract relationship (OTR), and transverse arches views (TAV) of the great arteries in excluding major congenital heart defects (CHDs) in high-risk populations. This retrospective study included high-risk pregnancies for CHDs undergoing EFHA at 11-14 weeks of gestation. Risk factors for CHDs were diabetes mellitus, a family history of CHDs, a history of a CHD use of teratogenic medications, seizure disorder, assisted reproductive treatment-conceived pregnancy, presence of at least one of the ultrasound markers: enlarged nuchal translucency (>95th percentile), tricuspid regurgitation, and reversed a-wave in the ductus venosus, presence of an extracardiac or a suspected cardiac anomaly, a high-risk first trimester combined screen result, and multiple pregnancies. EFHA consisted of visualization of 4ChV, OTR, and TAV, with and without power Doppler ultrasound. The primary outcome was the negative predictive value of EFHA in excluding major CHDs. EFHA was performed on 1055 fetuses. Of these, 1024 were used for the final analysis. Of these, 94.9% (n=923) were singleton. The most common indication for EFHA was maternal DM (n=231, 22.6%). The sensitivity, specificity, false positive, false negative, and accuracy of EFHA were 93.2%, 99.9%, 1.4%, 0.4%, and 99.5% (P < .0001), respectively, in entire included cases. The performance of EFHA was 88%, 99.9%, 1.4%, 0.4%, and 99.5% (P < .0001) respectively when the terminated cases were excluded. Early fetal heart assessment is feasible for screening for major CHDs in high-risk populations. This approach may be expanded to the general obstetric population.

Cost‐effectiveness of prenatal screening methods for congenital heart defects in pregnancies conceived by in‐vitro fertilization

To determine if a policy of universal fetal echocardiography (echo) in pregnancies conceived by in-vitro fertilization (IVF) is cost-effective as a screening strategy for congenital heart defects (CHDs) and to examine the cost-effectiveness of various other CHD screening strategies in IVF pregnancies. A decision-analysis model was designed from a societal perspective with respect to the obstetric patient, to compare the cost-effectiveness of three screening strategies: (1) anatomic ultrasound (US): selective fetal echo following abnormal cardiac findings on detailed anatomic survey; (2) intracytoplasmic sperm injection (ICSI) only: fetal echo for all pregnancies following IVF with ICSI; (3) all IVF: fetal echo for all IVF pregnancies. The model initiated at conception and had a time horizon of 1 year post-delivery. The sensitivities and specificities for each strategy, the probabilities of major and minor CHDs and all other clinical estimates were derived from the literature. Costs, including imaging, consults, surgeries and caregiver productivity losses, were derived from the literature and Medicare databases, and are expressed in USA dollars ($). Effectiveness was quantified as quality-adjusted life years (QALYs), based on how the strategies would affect the quality of life of the obstetric patient. Secondary effectiveness was quantified as number of cases of CHD and, specifically, cases of major CHD, detected. The average base-case cost of each strategy was as follows: anatomic US, $8119; ICSI only, $8408; and all IVF, $8560. The effectiveness of each strategy was as follows: anatomic US, 1.74487 QALYs; ICSI only, 1.74497 QALYs; and all IVF, 1.74499 QALYs. The ICSI-only strategy had an incremental cost-effectiveness ratio (ICER) of $2 840 494 per additional QALY gained when compared to the anatomic-US strategy, and the all-IVF strategy had an ICER of $5 692 457 per additional QALY when compared with the ICSI-only strategy. Both ICERs exceeded considerably the standard willingness-to-pay threshold of $50 000-$100 000 per QALY. In a secondary analysis, the ICSI-only strategy had an ICER of $527 562 per additional case of major CHD detected when compared to the anatomic-US strategy. All IVF had an ICER of $790 510 per case of major CHD detected when compared with ICSI only. It was determined that it would cost society five times more to detect one additional major CHD through intensive screening of all IVF pregnancies than it would cost to pay for the neonate's first year of care. The most cost-effective method of screening for CHDs in pregnancies following IVF, either with or without ICSI, is to perform a fetal echo only when abnormal cardiac findings are noted on the detailed anatomy scan. Performing routine fetal echo for all IVF pregnancies is not cost-effective. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Noninvasive screening for congenital heart defects using a serum metabolomics approach.

Heart anomalies represent nearly one-third of all congenital anomalies. They are currently diagnosed using ultrasound. However, there is a strong need for a more accurate and less operator-dependent screening method. Here we report a metabolomics characterization of maternal serum in order to describe a metabolomic fingerprint representative of heart congenital anomalies. Metabolomic profiles were obtained from serum of 350 mothers (280 controls and 70 cases). Nine classification models were built and optimized. An ensemble model was built based on the results from the individual models. The ensemble machine learning model correctly classified all cases and controls. Malonic, 3-hydroxybutyric and methyl glutaric acid, urea, androstenedione, fructose, tocopherol, leucine, and putrescine were determined as the most relevant metabolites in class separation. The metabolomic signature of second trimester maternal serum from pregnancies affected by a fetal heart anomaly is quantifiably different from that of a normal pregnancy. Maternal serum metabolomics is a promising tool for the accurate and sensitive screening of such congenital defects. Moreover, the revelation of the associated metabolites and their respective biochemical pathways allows a better understanding of the overall pathophysiology of affected pregnancies.

Corrigendum. Association between advanced paternal age and congenital heart defects: a systematic review and meta-analysis.

STUDY QUESTION Is there an association between advanced paternal age and congenital heart defects (CHD)? SUMMARY ANSWER Advanced paternal age is associated with a 16% increase in the overall odds of CHD. WHAT IS KNOWN ALREADY CHD are the most common congenital malformations. Several risk factors for CHD have been identified in the literature, but the association between advanced paternal age and CHD remains unclear. STUDY DESIGN, SIZE, DURATION We conducted a systematic literature search on MEDLINE and EMBASE (1960-2019) to identify studies assessing the association between advanced paternal age (≥35 years) and the risk of CHD, unrestrictive of language or sample size. We used a combination of Medical Subject Headings (MeSH) terms and free text words such as 'paternal age', 'paternal factors', 'father's age', 'parental age', 'heart', 'cardiac', 'cardiovascular', 'abnormalities, congenital', 'birth defects', 'congenital malformations' and 'congenital abnormalities'. PARTICIPANTS/MATERIALS, SETTING, METHODS We included observational studies aiming at assessing the association between paternal age and CHD. The included population could be live births, fetal deaths and terminations of pregnancy for fetal anomaly. To be included, studies had to provide either odds ratios (OR) with their 95% confidence interval (CI) or sufficient information to recalculate ORs with 95% CIs per paternal age category. We excluded studies if they had no comparative group and if they were reviews or case reports. Two independent reviewers selected the studies, extracted the data and assessed risk of bias using a modified Newcastle-Ottawa Scale. We used random-effects meta-analysis to produce summary estimates of crude OR. Associations were also tested in subgroups. MAIN RESULTS AND THE ROLE OF CHANCE Of 191 studies identified, we included nine studies in the meta-analysis (9 917 011 participants, including 34 447 CHD), including four population-based studies. Five studies were judged at low risk of bias. Only one population-based study specifically investigated isolated CHD. The risk of CHD was higher with advanced paternal age (summary OR 1.16, 95% CI, 1.07-1.25). Effect sizes were stable in population-based studies and in those with low risk of bias. LIMITATIONS AND REASONS FOR CAUTION The available evidence did not allow to assess (i) the risk of isolated CHD in population-based studies, (ii) the association between paternal age and the risk for specific CHD and (iii) the association between paternal age and CHD after adjustment for other risk factors, such as maternal age. WIDER IMPLICATIONS OF THE FINDINGS Our findings suggest that advanced paternal age may be a risk factor for CHD. However, because the association is modest in magnitude, its usefulness as a criterion for targeted screening for CHD seems limited. STUDY FUNDING/COMPETING INTEREST(S) None. PROSPERO REGISTRATION NUMBER CRD42019135061.

Association between advanced paternal age and congenital heart defects: a systematic review and meta-analysis

Is there an association between advanced paternal age and congenital heart defects (CHD)? Advanced paternal age is associated with a 16% increase in the overall odds of CHD. CHD are the most common congenital malformations. Several risk factors for CHD have been identified in the literature, but the association between advanced paternal age and CHD remains unclear. We conducted a systematic literature search on MEDLINE and EMBASE (1960-2019) to identify studies assessing the association between advanced paternal age (≥35 years) and the risk of CHD, unrestrictive of language or sample size. We used a combination of Medical Subject Headings (MeSH) terms and free text words such as 'paternal age', 'paternal factors', 'father's age', 'parental age', 'heart', 'cardiac', 'cardiovascular', 'abnormalities, congenital', 'birth defects', 'congenital malformations' and 'congenital abnormalities'. We included observational studies aiming at assessing the association between paternal age and CHD. The included population could be live births, fetal deaths and terminations of pregnancy for fetal anomaly. To be included, studies had to provide either odds ratios (OR) with their 95% confidence interval (CI) or sufficient information to recalculate ORs with 95% CIs per paternal age category. We excluded studies if they had no comparative group and if they were reviews or case reports. Two independent reviewers selected the studies, extracted the data and assessed risk of bias using a modified Newcastle-Ottawa Scale. We used random-effects meta-analysis to produce summary estimates of crude OR. Associations were also tested in subgroups. Of 191 studies identified, we included nine studies in the meta-analysis (9917011 participants, including 34447 CHD), including four population-based studies. Five studies were judged at low risk of bias. Only one population-based study specifically investigated isolated CHD. The risk of CHD was higher with advanced paternal age (summary OR 1.16, 95% CI, 1.07-1.25). Effect sizes were stable in population-based studies and in those with low risk of bias. The available evidence did not allow to assess (i) the risk of isolated CHD in population-based studies, (ii) the association between paternal age and the risk for specific CHD and (iii) the association between paternal age and CHD after adjustment for other risk factors, such as maternal age. Our findings suggest that advanced paternal age may be a risk factor for CHD. However, because the association is modest in magnitude, its usefulness as a criterion for targeted screening for CHD seems limited. None. CRD42019135061.

Efficacy of fetal cardiac axis evaluation in the first trimester as a screening tool for congenital heart defect or aneuploidy.

ObjectiveTo prove the efficacy of determining the abnormal fetal cardiac axis for screening congenital heart defects (CHDs) and predicting fetal aneuploidy at 11.0 to 13.6 weeks of pregnancy.MethodsThis retrospective study was performed at a single high-risk pregnancy center. The fetal cardiac axis was evaluated between 11.0 and 13.6 weeks of gestation in 142 fetuses. The cardiac axis in a 4-chamber view was measured as the angle between the line tracing the long axis of the heart and the line bisecting the thorax in the anteroposterior direction. A CHD was confirmed based on the second- to third-trimester fetal status or postnatal imaging. Aneuploidy was diagnosed using chorionic villus sampling, amniocentesis, or genetic testing after birth. Fisher's exact test was performed to assess the association between the fetal cardiac axis and the abnormal fetal status. A 2-way contingence table analysis was performed to confirm the efficacy of the fetal cardiac axis as a screening tool.ResultsAmong the 142 fetuses, 10 had a CHD while 17 had aneuploidy. The abnormal fetal cardiac axis was significantly associated with CHDs (P=0.013) and aneuploidy (P=0.010). None of the fetuses with CHDs or aneuploidy had an isolated abnormal cardiac axis alone without other sonographic findings. The sensitivity of the fetal cardiac axis was 50.0% for CHDs and 41.2% for aneuploidy.ConclusionThe fetal cardiac axis can be an additional helpful tool for prenatal screening of CHDs and aneuploidy in the first trimester.

Clinical score to detect congenital heart defects: Concept of second screening.

Introduction:Neonatal screening for congenital heart defects at birth can miss some heart defects, sometimes few critical ones, and the scenario is even worse in those neonates who had never undergone a neonatal checkup (home deliveries). Immunization clinic can serve as a unique opportunity as the second checkpoint for the screening of the children. A history- and examination-based test can serve as an effective tool to screen out children with heart defects.Aims and Objectives:The aim of this study was to establish the sensitivity and specificity of a clinical screening tool for the identification of congenital heart defects at the first visit of an infant after birth for immunization.Materials and Methods:This is a cross-sectional observational study which the consecutive children presenting at 6 weeks of age for immunization or any child presenting for the first time (outborn delivery) till 6 months of age in the immunization clinic were subjected to detailed history and examination and findings were recorded on a predesigned pro forma and a clinical score was calculated. All these children were then subjected to echocardiography for confirmation of the diagnosis of congenital heart disease (CHD), and the sensitivity and specificity of the test were recordedObservations and Results:A total of 970 babies were screened, out of them 31 were diagnosed with CHD and 18 had undergone neonatal screening at birth. A clinical score of 3 or more had more chances of detecting CHD. The sensitivity of the cutoff score as 3 was 96.77% and specificity was 98.72, with a positive predictive value of 71.43%, a negative predictive value of 99.89%, and an accuracy of 98.66%.Conclusions:The history- and examination-based tool is an effective method for early identification of CHD and can easily be used by peripheral workers working in remote places with poor resources enabling prompt referral.

Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations.

The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality syndromes is well-known, and among aneuploidy syndromes, distinctive patterns have been delineated. We update the type and frequency of CHDs in the aneuploidy syndromes involving trisomy 13, 18, 21, and 22, and in several sex chromosome abnormalities (Turner syndrome, trisomy X, Klinefelter syndrome, 47,XYY, and 48,XXYY). We also discuss the impact of noninvasive prenatal screening (mainly, cell-free DNA analysis), critical CHD screening, and the growth of parental advocacy on their surgical management and natural history. We encourage clinicians to view the cardiac diagnosis as a "phenotype" which supplements the external dysmorphology examination. When detected prenatally, severe CHDs may influence decision-making, and postnatally, they are often the major determinants of survival. This review should be useful to geneticists, cardiologists, neonatologists, perinatal specialists, other pediatric specialists, and general pediatricians. As patients survive (and thrive) into adulthood, internists and related adult specialists will also need to be informed about their natural history and management.

Sonographic Evaluation of Fetal Cardiac Anatomy in the Late First Trimester

Objective: Congenital heart defects (CHDs) are the most common cause of infant death in the United States. Severe, complex cardiac anomalies make up approximately half of the cases and carry significant morbidity and mortality. The purpose of this literature review was to define a CHD screening protocol to be used in the first trimester. Methods: Literature was pulled that discussed the impact of color Doppler and spatiotemportal image correlation on image quality, explored the benefits and limitations of early screening, and analyzed the risk of bioeffects to the developing fetus. Results: A simplified cardiac screening protocol has been shown to be a feasible addition to the first trimester nuchal translucency scan. Conclusion: Color Doppler and three-dimensional sonography can be utilized during the first trimester to evaluate the fetal heart for major anomalies between 11 weeks and 13 weeks 6 days. Recommendations for future research and guidance from accrediting bodies are provided.

Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit

Objective:To evaluate the implementation of early screening for critical congenital heart defects (CCHDs) in the neonatal intensive care unit (NICU) and potential exclusion of sub-populations from universal screening.Study Design:Prospective evaluation of CCHD screening at multiple time intervals was conducted in 21 NICUs across five states (n=4556 infants).Results:Of the 4120 infants with complete screens, 92% did not have prenatal CHD diagnosis or echocardiography before screening, 72% were not receiving oxygen at 24 to 48 h and 56% were born ⩾2500 g. Thirty-seven infants failed screening (0.9%); none with an unsuspected CCHD. False positive rates were low for infants not receiving oxygen (0.5%) and those screened after weaning (0.6%), yet higher among infants born at <28 weeks (3.8%). Unnecessary echocardiograms were minimal (0.2%).Conclusion:Given the majority of NICU infants were ⩾2500 g, not on oxygen and not preidentified for CCHD, systematic screening at 24 to 48 h may be of benefit for early detection of CCHD with minimal burden.

Pulse Oximetry During the First 24 Hours as a Screening Tool for Congenital Heart Defects.

IntroductionAlthough screening for congenital heart defects (CHD) relies mainly on antenatal ultrasonography and clinical examination after birth, life-threatening cardiac malformations are often not diagnosed before the patient is discharged.AimTo assess the use of routine pulse oximetry in the delivery room and at 24 hours postpartum, and to study its feasibility as a screening test for CHD.Material and MethodsIn this prospective study, all infants born in “Cuza Voda” Maternity Hospital, Iasi, Romania, were enrolled over a thirteen-month period. Preductal oximetry was assessed during the first hour, and postductal oximetry was evaluated at twenty-four hours postpartum. Data were then analyzed to establish the sensitivity and specificity of pulse oximetry, as a screening test for CHD.Results5406 infants were included in the study, with a mean gestational age of 38.2 weeks and a mean birth weight of 3175 grams. During the first minute, blood oxygen saturation varied between 40% and 90% and at 24 hours of life, it ranged between 90% and 100%. Following oximetry assessment, 14 infants with critical CHD were identified. Blood oxygen saturation values in infants with CHD were lower throughout the entire period of evaluation. Pulse oximetry had good sensitivity and specificity at 1 hour (Se=87.5%, Sp=95.5%) and 24 hours (Se=92.5%, Sp=97.4%) for the diagnosis of CHD. Blood oxygen saturation values at one minute, 1 hour and 24 hours are strong discriminative parameters for the early diagnosis of CHD.ConclusionRoutine pulse oximetry during the first 24 hours postpartum represents an early indicator of CHD to facilitate timely intervention. Pulse oximetry provides excellent sensitivity and specificity and has tremendous potential as a standard screening test for CHD during the first 24 hours of life.

Perfusion Index and Pulse Oximetry Screening for Congenital Heart Defects

To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals. A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission. Eligible infants underwent pre- and postductal POX and PI screening after routine discharge examination. Targeted sCHD were anatomically defined. Positivity was defined as postductal oxygen saturation (SpO2) ≤95%, prepostductal SpO2 gradient >3%, or PI <0.90. Confirmed positive cases underwent echocardiography for definitive diagnosis. Missed cases were identified by consulting clinical registries at 6 regional pediatric heart centers. Main outcomes were incidence of unexpected sCHD; proportion of undetected sCHD after discharge in tertiary and nontertiary hospitals; and specificity, sensitivity, positive predictive value, and negative predictive value of combined screening. One hundred forty-two sCHD were detected prenatally. Prevalence of unexpected sCHD was 1 in 1115 live births, similar in tertiary and nontertiary hospitals. Screening identified 3 sCHD (low SpO2, 2; coarctation for low PI, 1). Four cases were missed. In tertiary hospitals, 95% of unsuspected sCHDs were identified clinically, whereas only 28% in nontertiary units; in nontertiary units PI-POX screening increased the detection rate to 71%. PI-POX predischarge screening provided benefits in nontertiary units, where clinical recognition rate was low. PI can help identify coarctation cases missed by POX but requires further evaluation in populations with higher rates of missed cases.