Congenital Heart Disease In Newborns Research Articles

A “twelve-section ultrasonic screening and diagnosis method” and management system for screening and treating neonatal congenital heart disease at the grassroots level in Tang County, Hebei Province, China

BackgroundTo explore a method for screening and diagnosing neonatal congenital heart disease (CHD) applicable to grassroots level, evaluate the prevalence of CHD, and establish a hierarchical management system for CHD screening and treatment at the grassroots level.MethodsA total of 24,253 newborns born in Tang County between January 2016 and December 2020 were consecutively enrolled and screened by trained primary physicians via the “twelve-section ultrasonic screening and diagnosis method” (referred to as the “twelve-section method”). Specialized staff from the CHD Screening and Diagnosis Center of Hebei Children’s Hospital regularly visited the local area for definite diagnosis of CHD in newborns who screened positive. Newborns with CHD were managed according to the hierarchical management system.ResultsThe centre confirmed that, except for 2 newborns with patent ductus arteriosus missed in the diagnosis of ventricular septal defect combined with severe pulmonary hypertension, newborns with other isolated or concomitant simple CHDs were identified at the grassroots level. The sensitivity, specificity and diagnostic coincidence rate of the twelve-section method for screening complex CHD were 92%, 99.6% and 84%, respectively. A total of 301 children with CHD were identified. The overall CHD prevalence was 12.4‰. According to the hierarchical management system, 113 patients with simple CHD recovered spontaneously during local follow-up, 48 patients continued local follow-up, 106 patients were referred to the centre for surgery (including 17 patients with severe CHD and 89 patients with progressive CHD), 1 patient died without surgery, and 8 patients were lost to follow-up. Eighteen patients with complex CHD were directly referred to the centre for surgery, 3 patients died without surgery, and 4 patients were lost to follow-up. Most patients who received early intervention achieved satisfactory results. The mortality rate of CHD was approximately 28.86 per 100,000 children.ConclusionsThe “twelve-section method” is suitable for screening neonatal CHD at the grassroots level. The establishment of a hierarchical management system for CHD screening and treatment is conducive to the scientific management of CHD, which has important clinical and social significance for early detection, early intervention, reduction in mortality and improvement of the prognosis of complex and severe CHDs.

High-Sensitivity Cardiac Troponin and the Management of Congenital Heart Disease in Newborns and Infants.

Early cardiac interventions in newborns and infants suspected for congenital heart disease (CHD) decrease morbidity and mortality. After updating current evidence on the use of cardiac troponins (cTn) in the context of CHD for risk stratification at early ages, we discuss relevant issues, starting from the evidence that only the measurement of the cTnT form is useful in this population. In newborns/infants with CHD, the cTnT concentration increase is correlated with: (a) cardiac stress and hemodynamic parameters, but not with the type of CHD; (b) volume overload/right ventricular pressure overload; (c) postoperative hypoperfusion injury and mortality; and (d) effects of cardioprotective strategies. For infants with CHD, high-sensitivity cTnT (hs-cTnT) concentrations >25 ng/L are an independent predictor of poor outcomes. Transitioning from cTnT to hs-cTnT in newborns/infants improves the identification of: (a) physiopathological mechanisms and factors that increased hs-cTnT early after birth; (b) myocardial injury, even when subclinical; (c) identification of patients requiring immediate therapeutic interventions; and (d) 99th percentile upper reference limits (URLs). However, no reliable URLs are currently available to allow the detection of myocardial injury associated with CHD in newborns/infants. Additional data evaluating the clinical value of hs-cTnT in the risk stratification of newborns/infants with CHD who may suffer myocardial injury is needed. Validating the measurement, possibly in amniotic fluid samples, and improving the interpretation of hs-cTnT concentrations in the prenatal period, at birth and within 1 year of age are crucial to change CHD mortality/morbidity trends in the pediatric population.

SERUM ADAMTS9 LEVEL IN NEWBORN BABIES WITH CONGENITAL HEART DISEASE.

Introduction & Objective ADAMTS-9, one of the ADAMTS enzymes, is expressed in all fetal tissues, unlike other ADAMTS enzymes, and is thus thought to play a role in fetal development. In this context, the objective of this study is to investigate the relationship between ADAMTS-9 activity and the development of Congenital Heart Diseases (CHD) with a view to using ADAMTS-9 level as a biomarker for CHDs. Material & Method Newborns diagnosed with CHD and healthy newborns were included in the study as the CHD and control groups, respectively. Gestational age, maternal age, and mode of delivery information pertaining to the mothers and APGAR score and birth weight information pertaining to the newborns were recorded. Blood samples were taken from all newborns to determine their ADAMTS-9 levels in the first 24 hours of life. Results Fifty-eight newborns with CHD and 46 healthy newborns were included in the study. Median ADAMTS-9 levels were 46.57 [interquartile range(IQR):33.31 (min.26.92, max.124.25)] ng/ml and 23.36 [(IQR:5.48)(min.11.7, max.37.71)] ng/ml in the CHD and control groups, respectively. ADAMTS-9 levels in the CHD group were statistically significantly higher than in the control group (p=0.000). ADAMTS-9 levels of the CHD and control groups were analyzed by the receiver operating characteristics(ROC) curve. The area under the curve (AUC) value for ADAMTS-9levels of >27.86 ng/ml as the cut-off value for predicting the development of CHD in newborns was 0.836 [95% confidence interval (CI): 0.753-0.900, p=0.0001]. ADAMTS-9 levels of >27.86 ng/ml were determined to predict the development of CHD in newborns with a sensitivity of 77.78% [95% CI: 65.5-87.38] and a specificity of 84.78% [95% CI: 71.1-93.60]. Conclusion In conclusion, it was found that the serum ADAMTS-9 levels were significantly higher in newborns with CHD than in healthy newborns. In parallel, ADAMTS-9 levels above a certain cut-off value were associated with CHD.

Prevalence of congenital heart disease according to the echocardiography findings in 8145 neonates, multicenter study in southern Iran.

Congenital heart disease (CHD), the lethal congenital anomaly in newborns, is multifactorial, with environmental and genetic factors contributing to its occurrence. Although some studies on the prevalence of CHD have been conducted throughout the country, this large-scale study aims to provide information on the prevalence of various types of CHDs in newborns according to the echocardiography findings. Over 3 years, 8145 neonates with suspected CHD who underwent echocardiography by a trained pediatric cardiologist were included in this multicenter, cross-sectional observational study. CHD was categorized into two major groups; cyanotic and acyanotic heart disease. The SPSS version 22 software was used to analyze the data with a significance level set at 0.05. Of 8145 neonates who were referred to our centers with CHD symptoms, 6307 were indicated for echocardiography. The mean age of the studied population was 8.5 ± 9.3 days and the male-to-female ratio was 2.6, especially in the arterial septal defect (ASD), ventricular septal defect (VSD), and patent ductus arteriosus (PDA) groups. 77.2% of patients had acyanotic heart disease (100 in 1000 neonates) with ASD as the most common one and 9% were diagnosed with cyanotic heart disease (11 in 1000 neonates) with transposition of the great arteriesas the most common form and the aortopulmonary window was the rarest form. This large prospective, multicenter screening study reported arterial septal defect (85%) and patents with ductus arteriosus (32%) as the most frequent type of CHD. Moreover, the prevalence of male patients was significantly higher. This information would be helpful for health policy makers, stakeholders, and general practitioners in regions where there are no trained pediatric cardiologist fellowships and limited access to echocardiography devices for better management of CHD.

Genetic Variants of ISL1 Gene Promoter Identified from Congenital Tetralogy of Fallot Patients Alter Cellular Function Forming Disease Basis.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease in newborns. ISL1 is a master transcription factor in second heart field development, whereas the roles of ISL1 gene promoter variants in TOF patients have not been genetically investigated. Total DNA extraction from 601 human subjects, including 308 TOF patients and 293 healthy controls, and Sanger sequencing were performed. Four variants (including one novel heterozygous variant) within the ISL1 gene promoter were only found in TOF patients. Functional analysis of DNA sequence variants was performed by using the dual-luciferase reporter assay and demonstrated that three of the four variants significantly decreased the transcriptional activity of ISL1 gene promoter in HL-1 cells (p < 0.05). Further, the online JASPAR database and electrophoretic mobility shift assay showed that the three variants affected the binding of transcription factors and altered ISL1 expression levels. In conclusion, the current study for the first time demonstrated that the variants identified from the ISL1 gene promoter region are likely involved in the development of TOF by affecting the transcriptional activity and altering the ISL1 expression level. Therefore, these findings may provide new insights into the molecular etiology and potential therapeutic strategy of TOF.

Characteristics of Patients with Ventricular Septal Defect that Had Been Closed with Transcatheter in Dr. Soetomo General Hospital from January 2019 to December 2021

VSD is the most common congenital heart disease in newborns. VSD can close spontaneously in the early years of life. However, VSD can not close spontaneously in a few patients and cause complications so that it is necessary to perform VSD closure earlier, one of all options is transcatheter. Transcatheter is a minimal invasive procedure with a high success rate and safety also the incidence of cardiorespiratory disturbances are less while using transcatheter devices making it an alternative intervention for VSD closure. This study aims to determine the outcome characteristics and complications of VSD closure with transcatheter intervention. This study was a descriptive observational study using a cross-sectional design with a retrospective approach, based on secondary data. Sampling was done by total sampling technique. A sample of 27 patients was obtained with a mean age of 4.48 ± 3,298 years, an average weight of 17.70 ± 10.5550 kg, and male sex dominated by 55.6%. The most common type of VSD that was closed with a transcatheter was the perimembranous type of 70.4% and the size of the VSD was dominated by the medium size of 85.2%. The transcatheter VSD closure was successful in 24 patients (88.9%) and failed in three (11.1%). Residual shunt developed in one of three patients who failed. The most common complication was arrhythmia with NSVT type of 62,96%. Other complications were PVC 7.4%, aortic valve regurgitation 3.7%, and hypotension 3.7%. Closure of VSD by transcatheterization has a high success rate, no death is found, and there are no major complications that require long-term or life-threatening therapy. All complications found only occurred during transcatheterization, i.e. arrhythmia, mild aortic valve regurgitation, and hypotension.

Clinical Screening of Congenital Heart Disease in Neonates: a Literature Review on Five Studies

Background: Diagnosing Congenital Heart Disease (CHD), particularly critical CHD in newborns, could be difficult but crucial, since the field of congenital heart surgery has shifted from initial palliation followed by final correction at a later age to stressing early repair even in the youngest individuals. Although echocardiography remains the gold standard for diagnosing CHD, simple clinical examination may be helpful in screening neonates who require further investigation and treatment. In this study, we searched and reviewed the literature on clinical screening for CHD using a simple, affordable tool that is readily available in primary health care facilities, to prove that early simple clinical examination would help physician to screen for asymptomatic CHD.Methods: We searched articles on google scholars that discuss clinical screening of CHD in neonates. Inclusion criteria is articles published within five years and exclusion criteria is articles published older than five years.Results: We found five articles eligible and pick consecutively. We found that pulse oximetry sensitivity and specificity ranged from 21.54%-77.3% and 82.65%-99.9%, respectively. Cardiac auscultation with murmur of grade ≥2 as count as positive, having high range of sensitivity and specificity, with sensitivity ranged from 17.3%-89.58% and specificity ranged from 47.36%-99.69%. When pulse oximetry and cardiac auscultation combined, three studies found that the sensitivity and specificity increased dramatically, 89.9%-95.5%, 94.7%-99.37%, respectively. Conclusion: Both cardiac auscultation and pulse oximetry was an easy, feasible method with readily available basic tools at all hospital with acceptable sensitivity and specificity to screening CHD before suspected neonates undergo echocardiography, therefore making CHD diagnosed more effective and efficient.

Large scale application of pulse oximeter and auscultation in screening of neonatal congenital heart disease

PurposeTo conduct a retrospective evaluation of a large clinical implementation of combined pulse oximeter (POX) and cardiac auscultation as a fast-screening device for congenital heart disease (CHD).MethodsEvery newborn in a large maternity healthcare center received auscultation and POX screening within 24 hours after delivery. When an abnormal heart murmur or SpO2 level was detected, an echocardiogram was ordered to confirm the diagnosis of CHD.ResultsFrom January 1, 2018 to December 31, 2019, there were 44,147 livebirths at the studied hospital where 498 suspected CHD were identified: 27 newborns by POX screening and 471 by cardiac auscultation. The diagnosis was further confirmed in 458 neonates through echocardiogram. This result put forth an overall diagnosis rate of 92.0%. Cardiac auscultation detected the majority of CHD cases 438 (95.6%) while POX only screened 20 (4.4%) cases. Interestingly, no CHD case was detected by both auscultation examination and POX screening. Auscultation detected most of the common types of CHD, but POX excelled in identifying rare and critical cases. POX screening alone had a very low accuracy of 74.07% in positive predict value (PPV). On the other hand, auscultation functioned well in terms of PPV and negative predict value (NPV) (92.99 and 99.95%, respectively), but the addition of POX improved the overall screening performance resulting in 100% NPV. We also validate the finding with the data 6 months after the study period.ConclusionOur study demonstrated that addition of pulse oximetry to routine cardiac auscultation could be used as an accurate and feasible screening for early screening of CHD in newborns in large-scale clinical practice.

Our screening results for critical congenital heart disease in newborns

Giriş ve Amaç: Konjenital kalp hastalığı (KKH), en sık görülen konjenital hastalıktır. Kritik konjenital kalp hastalığı (KKKH) ise, yaşamın ilk 28 gününde cerrahi operasyon ya da kateter girişimi gereksinimi olan KKH’dır. Doğumdan sonra KKKH tanısı geciken vakalarda mortalite ve morbidite artar. Bu çalışmada hastanemizde taburculuk öncesi uygulanan nabız oksimetre ile KKKH taraması sonuçlarının değerlendirilmesi amaçlanmıştır.&#x0D; Gereç ve Yöntemler: Ocak 2019 ile Ocak 2020 tarihleri arasında hastanemizde doğan ve anne yanında takip edilen 504 yenidoğan bebek çalışmaya dahil edildi. Prenatal dönemde KKKH tanısı almış ya da KKH dışı major anomalisi olan bebekler çalışmaya dahil edilmedi. Taburculuk öncesi nabız oksimetre ile preduktal ve postduktal saturasyon ölçümleri yapıldı. &#x0D; Bulgular: Çalışmaya toplam 504 bebek alındı. Bebeklerin ortalama doğum haftası 38,27 ± 1,35 (35-42) hafta, doğum ağırlığı ise 3200,29 ± 476,05 (1980-4970) olarak saptandı. Kız/erkek oranı 250/254; sezeryan/normal doğum oranı 337/167 idi. Tarama sırasındaki bebeklerin ortalama yaşları 32,51 ± 17,87 (6-96) saatti. Tarama sonucu ortalama kardiak nabız 140,06 ± 15,03 (99-186) /dk, preduktal saturasyon değeri %97,66 ± 1,92 (89-100), postduktal saturasyon değeri %97,88 ± 1,84 (90-100), fark %1,49 ± 1,40 (0-7) olarak saptandı. İlk taramadan 85 (%16,9) bebek kalırken, ikinci tarama yapılan 85 bebeğin 56 (%11,1)’sı kaldı. Tarama ve fizik muayene sonrası EKO’su yapılan 72 bebeğin 45inde patoloji saptanırken 27’sinde normal olarak değerlendirildi. Hiç bir hastada KKKH saptanmadı. &#x0D; Sonuç: Birçok merkezde de yapılan nabız oksimetre ile KKKH tarama sonuçlarımızı değerlendirdik. Yapılan değerlendirmede tarama testinden kalan hastaların hiçbirinde KKKH saptanmadı. Bunun da düzenli perinatal takip ve ayrıntılı ultrasonografik değerlendirmeye bağlı olduğu düşünüldü.

THE ROLE OF PULSE OXIMETRY IN THE EARLY DETECTION OF CONGENITAL HEART DISEASE IN NEONATES BEFORE HOSPITAL DISCHARGE

Objectives: Infant screening for congenital heart disease (CHD) includes a straightforward bedside test called pulse oximetry. Low degrees of oxygen in the blood can be an indication of a critical CHD. The aim of the present study was to evaluate the role of pulse oximetry in the early detection of asymptomatic CHD in new borns before discharge from Hospital. Methodology: This cross-sectional study conducted on 3151 term neonates first stage of SPO2 was performed 2-12 hours after birth. If SPO2 was &lt; 95%, premeasured within the first 12 to 24 hours of life. If the neonates maintained their SPO2 &lt;95, they shifted to pediatric cardiologist for echocardiography. For the statistical analyses, SPSS 18.0 (SPSS Inc., Chicago, IL) was used. The significant level considered less than 0.05. Results: From 3151 neonates, 29 individuals had SPO2&lt;95% in which 26 went under echocardiography and 3 missed. In these neonates 22 had CHD. The SPO2 had a diagnostic value of 85%. Maternal age and neonates’ height at birth not changed based on healthy status and SPO2 levels. Gestational age had no association with healthy status and SPO2 levels, when maternal Diseases and weight at birth had a significant association with SPO2 levels at the second stage and health status. Conclusion: From the present study concluded that a high and acceptable diagnostic value of 85% found for SPO2 to detect CHD in neonates in the first 24 hours of life. The factors of maternal diseases and weight at birth had a significant effect in this issue.

Oxygen Saturation Screening Test: A Useful Method for Predicting Complex Congenital Heart Disease in Newborns

Oxygen Saturation Screening Test: A Useful Method for Predicting Complex Congenital Heart Disease in Newborns

Congenital Heart Disease in Newborns: Epidemiological and Clinical Particularities in a Neonatology Department in Mali

Introduction: Congenital heart disease is an important cause of mortality, chronic morbidity, and disability in children in poor countries. The objective of this study was to highlight the diversity of congenital heart defects in the neonatology department. Methodology: This work had taken place in a neonatology service over a period of six months from January 2019 to June 2019. It was a prospective descriptive study with information collected from the medical records of newborns with congenital heart disease. Results: Of 1478 neonates hospitalized during the study period, 41 had congenital heart disease, for a hospitalization rate of 2.77%. CHD accounted for 2.77% of neonatal hospitalizations. The sex ratio was 1.73 (26 boys/15 girls). Consanguinity was found in 19% of cases. The average time to consultation was 11 days. The main clinical signs were heart murmur (58%), respiratory distress (56%) and extracardiac malformations (54%). The main cardiac malformations found were atrial septal defect (46%), patent ductus arteriosus (44%), ventricular septal defect (17%), complete atrioventricular canal (15%), and transposition of the great vessels (5%). The case fatality rate was 29%. Conclusion: Delayed diagnosis, generally related to the long delay in consultation, and lack of surgical management partly explain this high case fatality.

Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review.

Congenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review was to evaluate if, in the neonatal setting, clinical clues that orient the diagnostic path can be identified. For this purpose, we revised the most frequent dysmorphic features described in newborns with CHD, comparing those associated with monogenic syndromes (MSG) with the ones reported in newborns with genomic disorders. For this systematic review according to PRISMA statement, we used PubMed, Medline, Google Scholar, Scopus database, and search terms related to CHD and syndrome. We found a wide range of dysmorphisms (ocular region, ears, mouth, and/or palate and phalangeal anomalies) detected in more than half of MSGs were found to be associated with CHDs, but those anomalies are also described in genomic rearrangements syndromes with equal prevalence. These findings confirmed that etiological diagnosis in newborns is challenging, and only the prompt and expert recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests. However, in general practice, it is crucial to recognize clues that can suggest the presence of a genetic syndrome, and neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate.

The significance of an integrated management mode of prenatal diagnosis-postnatal treatment for critical congenital heart disease in newborns.

Congenital heart disease (CHD) is the most common congenital defect in human beings. The purpose of this article is to investigate impact of an integrated management mode of 'prenatal diagnosis-postnatal treatment' on birth, surgery, prognosis and complications associated with critical CHD (CCHD) in newborns. A retrospective analysis of the medical records of newborns diagnosed with CCHD were divided into two groups: prenatal diagnosis and postnatal diagnosis. The demographics, clinical characteristics, surgical status, prognosis and complications of the two groups were compared and the differences identified. Among the 290 newborns with CCHD, 97 (33.4%) were prenatally diagnosed and 193 (66.6%) were postnatally diagnosed. Newborns in the prenatal diagnostic group were hospitalized immediately after birth, whereas the median age of admission was 6.00 (3.00-12.00) days in postnatal diagnostic group, P=0.000. In terms of postnatal symptoms and signs, the incidence of anhelation, cyanosis and cardiac murmur was higher in the postnatal diagnostic group. The rates of preoperative intubation, postoperative open chest exploration and treatment abandonment were higher in the postnatal diagnostic group. The postnatal diagnostic group was more prone to postoperative complications, such as pneumonia and hypoxic-ischemic brain damage. The preoperative mortality [0 (0.0%) vs. 12 (6.2%), P=0.028] in the prenatal diagnostic group was lower than that in the postnatal diagnostic group. And the one-year survival rate of the prenatal diagnostic group was higher (log-rank test P=0.034). The integrated management mode of prenatal diagnosis-postnatal treatment can improve postnatal symptoms, reduces complications, reduces preoperative mortality and increases one-year survival rates in newborns with CCHD.

Comparison of pulse oximetry screening versus routine clinical examination in detecting critical congenital heart disease in newborns

The Journal is the primary organ of Continuing Paediatric Medical Education in Sri Lanka. The journal also has a website. Free full text access is available for all readers.The Sri Lanka Journal of Child Health is now indexed in SciVerse Scopus (Source Record ID 19900193609), Index Medicus for South-East Asia Region (IMSEAR), CABI (Centre for Agriculture and Bioscience International Global Health Database), DOAJ and is available in Google, as well as Google Scholar.The policies of the journal are modelled on the Committee on Publication Ethics (COPE) Guidelines on Principles of Transparency and Best Practice in Scholarly Publishing. Sri Lanka Journal of Child Health is recognised by the International Committee of Medical Journal Editors (ICMJE) as a publication following the ICMJE Recommendations.

There is a Strong Association between Early Preeclampsia and Congenital Heart Defects: A Large Population-Based, Retrospective Study

Objective: The aim of this study was to determine the prevalence of congenital heart defects and examine their association with preeclampsia (PE). Methods: A clinical-based, retrospective study was conducted in Shenzhen between 2004 and 2017. Data were collected from Shenzhen Maternal and Child Health Hospital Medical Record Database. This study included all infants who were born at the hospital with or without heart defects and their mothers (N = 177,434 newborns). Data processing and analysis were performed by SPSS23.0 (Chicago, IL, USA). Results: 6,852 women (3.9%) were diagnosed as PE and 1,289 newborns (7.30 per 1,000) have congenital heart disease (CHD). Prevalence of CHD in newborns of women with PE is 15.8 per 1,000 significantly higher than the overall prevalence (7.30 per 1,000). CHD in newborns has strong association with PE, especially early-onset PE (adjusted OR 3.29 and 95% CI 2.15–5.03) and severe PE (adjusted OR 2.75 and 95% CI 2.13–3.56). Among those with CHD, infants of preeclamptic women had higher prevalence of tetralogy of Fallot (43.78 vs. 28.14 per 100,000), atrial septal defect (335.67 vs. 53.93 per 100,000), ventricular dysplasia (102.16 vs. 89.69 per 100,000), and ventricular septal defect (525.39 vs. 212.22 per 100,000) than pregnant women with non-PE. Conclusion: PE, especially early-onset PE and severe PE, is strongly associated with offspring CHD. Our results help advance the current understanding of the association between PE and offspring CHD. So preventing PE and reducing PE may have a beneficial effect on the offspring CHD.

Evaluation of Circulating Cardiovascular Biomarker Levels for Early Detection of Congenital Heart Disease in Newborns in Sweden

Congenital heart disease (CHD) is the most common congenital malformation in humans worldwide. Circulating cardiovascular biomarkers could potentially improve the early detection of CHD, even in asymptomatic newborns. To assess the performance of a dried blood spot (DBS) test to measure the cardiovascular biomarker amino terminal fragment of the prohormone brain-type natriuretic peptide (NT-proBNP) levels in newborns and to compare DBS with standard EDTA analysis in control newborns during the first week of life. This diagnostic study was conducted in a single regional pediatric service in southern Sweden. Healthy, term neonates born between July 1, 2018, and May 31, 2019, were prospectively enrolled and compared against retrospectively identified newborns with CHD born between September 1, 2003, and September 30, 2019. Neonates who required inpatient treatment beyond the standard postnatal care were excluded. New DBS test for NT-proBNP quantification in newborns that used 3 μL of blood vs the current screening standard. Performance of the new test and when combined with pulse oximetry screening was measured by receiver operating characteristic curve analysis. Performance of the new test and EDTA screening was compared using Pearson linear correlation analysis. The DBS samples of 115 neonates (81 control newborns and 34 newborns with CHD, of whom 63 were boys [55%] and the mean [SD] gestational age was 39.6 [1.4] weeks) were analyzed. The new NT-proBNP test alone identified 71% (n = 24 of 34) of all CHD cases and 68% (n = 13 of 19) of critical CHD cases as soon as 2 days after birth. Detection of any CHD type improved to 82% (n = 28 of 34 newborns) and detection of critical CHD improved to 89% (n = 17 of 19 newborns) when combined pulse oximetry screening and NT-proBNP test results were used. Performance of the NT-proBNP test was excellent when control newborns were matched to newborns with CHD born between July 1, 2018, and May 31, 2019 (area under the curve, 0.96; SE, 0.027; 95% CI, 0.908-1.0; asymptotic P < .05). This study found that NT-proBNP assay using minimal DBS samples appears to be timely and accurate in detecting CHD in newborns and to discriminate well between healthy newborns and newborns with various types of CHD. This finding warrants further studies in larger cohorts and highlights the potential of NT-proBNP to improve neonatal CHD screening.

Defecto ventricular septal aislado. Reporte de un caso

Las cardiopatías congénitas son las anomalías congénitas más frecuentes. El defecto ventricular septal (DVS) es la cardiopatía congénita más común en los recién nacidos que afecta entre 25 y 30% de los neonatos con defecto cardiaco; los de tipo medio muscular son más comunes que los perimembranosos. La incidencia de anomalías cromosómicas con DVS aislado es relativamente baja. El cierre espontáneo del DVS aislado ocurre en aquellos que son pequeños, y el DVS muscular medio es el que más comúnmente se cierra comparado con el membranoso o perimembranoso. El diagnóstico de DVS muscular aislado sin otra anomalía puede ser considerado un hallazgo benigno.

Congenital heart disease diagnosed with echocardiogram in newborns with asymptomatic cardiac murmurs: a systematic review

BackgroundMore than 50% of newborns with congenital heart disease (CHD) are unrecognized at birth; however, the use of echocardiogram (Echo) for diagnosing CHD in newborns with asymptomatic, non-syndromic cardiac murmurs (ANCM), has not been systematically reviewed yet. We aimed to identify the incidence of CHD diagnosed with Echo and systematically review whether Echo should be recommended in this patient group.MethodsThe methodology utilized in this systematic review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses framework. Using the MEDLINE, EMBASE, Web of Science, and Cochrane Library databases, we performed a systematic review of publications reporting CHD diagnosed with Echo in newborns with cardiac murmurs. The quality of the included studies was evaluated using the Study Quality Assessment Tools developed by the National Institutes of Health.ResultsOf the 630 studies screened, six cohort studies, four cross-sectional studies, and two case reports were included in this review. The incidence of cardiac murmurs ranged from 0.6–8.6%. Among the 1928 newborns with ANCM, 719 (37.3%) were diagnosed with Echo as having CHD, and ventricular septal defect was the most common congenital malformation. More than 50% of the newborns showed moderate CHD necessitating outpatient cardiology follow-up, and 2.5% had severe CHD requiring immediate interventions, such as cardiac catheterization and heart surgery.ConclusionsIn this systematic review, a high incidence of CHD in newborns with ANCM was detected using Echo. This indicates that the use of Echo for diagnosing CHD in healthy newborns with cardiac murmurs could be helpful in earlier detection of CHD, thereby improving clinical outcomes for newborns with severe CHD.

Evaluation of Pulse Oximetry in the Early Detection of Congenital Heart Diseases in Newborns

Background: Congenital heart diseases, which are asymptomatic at birth, are the most important causes of infant mortality. This study aimed to evaluate the role of pulse oximetry in the early detection of congenital heart diseases among newborns.Methods: In this cross-sectional descriptive study, 1230 newborns who were born in university hospitals in an urban area of Iran were placed under the pulse oximetry of right hand and right foot. The neonates with peripheral oxygen saturation (SPO2) of less than 95% in the right hand or right foot underwent pulse oximetry of the hands and feet again after two hours. Finally, the newborns with an SPO2 of less than 95% in the second stage were subjected to diagnostic echocardiography. The results were analyzed in SPSS software (version 18). Results: Out of 1230 neonates who underwent pulse oximetry, 417 newborns had an SPO2 of less than 95%, and their SPO2 was rechecked two hours later. Finally, echocardiography was performed for 32 newborns who had an SPO2 of less than 95%, of whom 24 infants were healthy and 8 infants (6 females and 2 males) had congenital heart disease. The sensitivity of the pulse oximetry to detect congenital heart disease was 100%, and its specificity was 98.04%.Conclusion: The results of this study highlighted the high sensitivity of pulse oximetry in the diagnosis of critical congenital heart disease which can be used at birth.