Diagnosis Of Critical Congenital Heart Disease Research Articles

Parent and healthcare professional experiences of critical congenital heart disease in New Zealand to advance health equity

BackgroundHigher odds of survival have been reported in European infants compared to Indigenous Māori and Pasifika infants with critical congenital heart disease in New Zealand. We therefore aimed to understand how to mitigate this disparity by investigating the parent and healthcare professional experiences’ of critical congenital heart disease healthcare in New Zealand.MethodsA prospective qualitative study utilising semi-structured interviews was conducted on a cohort of purposefully sampled parents and health professionals with experience of critical congenital heart disease healthcare in New Zealand. Parents were recruited after a fetal critical congenital heart disease diagnosis and offered two interviews at least three months apart, whilst multidisciplinary fetal and cardiosurgical health professionals were interviewed once. Interviews were recorded and transcribed verbatim before coding, categorization and qualitative analysis.ResultsDuring 2022 and 2023, 45 people participated in 57 interviews (25 parents: 19 mothers, 6 fathers; Indigenous Māori, n = 5; Pasifika, n = 6; Asian, n = 4; European, n = 10; and 20 healthcare professionals: European n = 17). The three lessons learned from participants were: (1) Minoritized groups experience disparate healthcare quality; (2) healthcare systems are under-resourced to provide equitable support for the differential needs of grieving parents; and (3) healthcare systems could engage minoritized families more optimally in shared decision-making.ConclusionsAccording to the experiences of parents and healthcare professionals, persisting inequities in CCHD healthcare quality occur by ethnic group, with the New Zealand healthcare system privileging European families. The concepts from this study could be translated by healthcare leaders, policymakers, and professionals into evidence-based healthcare system improvements to enhance experiences for non-European families more broadly.

Update on Prenatal Detection Rate of Critical Congenital Heart Disease Before and During the COVID-19 Pandemic.

Prenatal diagnosis of critical congenital heart disease (CCHD) has improved over time, and previous studies have identified CCHD subtype and socioeconomic status as factors influencing rates of prenatal diagnosis. Our objective of this single-center study was to compare prenatal diagnosis rates of newborns with CCHD admitted for cardiac intervention from the COVID-19 pandemic period (March 2020 to March 2021) to the pre-pandemic period and identify factors associated with the lack of CCHD prenatal diagnosis. The overall rate of CCHD and rates of the various CCHD diagnoses were calculated and compared with historical data collection periods (2009-2012 and 2013-2016). Compared with the 2009-2012 pre-pandemic period, patients had 2.17 times higher odds of having a prenatal diagnosis of CCHD during the pandemic period controlling for lesion type (aOR = 2.17, 95% CI 1.36-3.48, p = 0.001). Single ventricle lesions (aOR 6.74 [4.64-9.80], p < 0.001) and outflow tract anomalies (aOR 2.20 [1.56-3.12], p < 0.001) had the highest odds of prenatal diagnosis compared with the remaining lesions. Patients with outflow tract anomalies had higher odds for prenatal detection in the pandemic period compared with during the 2009-2012 pre-pandemic period (aOR 2.01 [1.06-3.78], p = 0.031). In conclusion, prenatal detection of CCHD among newborns presenting for cardiac intervention appeared to have improved during the pandemic period.

School Readiness in Preschool-Age Children with Critical Congenital Heart Disease.

This study examined the nature, variability, and predictors of school readiness difficulties in young children with critical congenital heart disease (CCHD). We hypothesized that, compared to a community control (CC) group, children with CCHD would score less well on measures of readiness and that readiness would be associated with CCHD-related risk factors. Children (60 CCHD and 60 CC) were 4 to 5 years of age and not yet attending kindergarten. Readiness measures included tests of cognition, executive function, motor ability, and pre-academic skills. Caregivers provided child behavior ratings. Analyses examined group differences in readiness, readiness profiles, and associations of readiness with CCHD-related medical risk factors. The CCHD group had lower scores than the CC group on testing and higher caregiver ratings of problems in social communication, as well as higher rates of deficits on several of the measures. Latent class analysis provided evidence for different readiness profiles, with more children with CCHD displaying profiles characterized by weaknesses in readiness. CCHD-related medical risk factors associated with readiness problems in the CCHD group included a co-morbid genetic disorder, postnatal diagnosis of CCHD, major perioperative complication, and longer periods of hospitalizations, cardiopulmonary bypass, and aortic cross-clamp placements. Findings document multiple problems in school readiness in young children with CCHD. Deficits vary across individuals and are associated with higher medical risk. Results confirm the importance of screening for school readiness in these children and suggest areas to target in designing screening measures and providing early childhood interventions.

Obstetric imaging practice characteristics associated with prenatal detection of critical congenital heart disease in a rural US region over 20years.

To identify clinical practice characteristics associated with the frequency of prenatal critical congenital heart disease (CCHD) detection (i.e., the number of liveborn infants with postnatally confirmed CCHD identified on prenatal sonography) over 20years in a rural setting comprised of 11 primarily low-volume obstetric hospitals and the single tertiary academic hospital to which they refer. This was a retrospective cohort study of all patients in the referral region with an initial prenatal and/or postnatal diagnosis of CCHD from 01/01/2002 to 12/31/2021. The frequency of prenatal CCHD detection at the time of an obstetric ultrasound was reported, as was the change in detection over time. Critical congenital heart disease detection was assessed as a function of cardiac lesion type, practice setting, and practice characteristics. There were 271 cases with a confirmed postnatal CCHD diagnosis, of which 49% were identified prenatally. The majority of community practices each averaged <10 CCHD cases in total over the study period. Prenatal detection at the tertiary academic hospital's obstetric ultrasound unit was 64%, compared to 22% at the combined referring community practices (p<0.001), though CCHD detection improved over time in both settings. Professional accreditation by the American Institute of Ultrasound in Medicine, image interpretation by radiology or Maternal Fetal Medicine, and use of video clips of ventricular outflow tracts were associated with improved prenatal CCHD detection. Our data demonstrate the infrequency of CCHD cases at small-volume, rural hospitals and the substantial variation in prenatal CCHD detection across practice settings. Our methods allowed for the identification of practice characteristics associated with prenatal CCHD detection.

Critical congenital heart disease: contemporary prenatal screening performance and outcomes in a multi-centre perinatology service

BackgroundPrenatal detection of critical congenital heart disease (CCHD) optimises perinatal decision-making and neonatal outcomes. The objective of this study was to determine the prenatal screening performance, care pathways and perinatal outcomes for prenatally and postnatally diagnosed cases of CCHD over a four-year period.Study designThis retrospective cohort study in a tertiary centre and its two affiliated secondary sites examined all cases of CCHD, including cases of pregnancy termination and in-utero fetal death, neonatal death and liveborn babies that underwent cardiac catheterization or surgery in the first six weeks of life. Prenatal and postnatal data were ascertained from the first trimester assessment for all patients diagnosed prenatally. Cases requiring intervention that were first identified in the postnatal period were included to determine prenatal detection rates. Follow-up for all cases of CCHD continued to one year of age.ResultsIn a consecutive cohort of 49,950 pregnancies in a 4-year period 01/2019 to 12/2022, a prenatal diagnosis of CCHD was made in 96 cases, yielding a prevalence of 1.9 per 1000 births. The prenatal detection for right duct-dependant heart pathology and congenital heart block was 100%, 85% for left duct-dependant pathology and 93% for transposition of the great arteries (TGA). In the prenatally diagnosed group, 37% of cases were complicated by extracardiac structural abnormalities, a genetic diagnosis or both. All cases of prenatal detection were identified in the context of routine anatomy screening rather than specialist Fetal Cardiac screening services. Almost half of all pregnancies complicated by CCHD did not undergo neonatal cardiac intervention, by virtue of parental choice determined either prenatally or after birth. An additional eight babies were diagnosed with CCHD in the neonatal period, such that the prenatal detection rate for CCHD was 92% (96/104, 95% CI = 84%-96%). Survival at 1-year for infants deemed suitable for CCHD surgery was 85%.ConclusionIn a large unselected population, optimal rates of prenatal detection of critical congenital heart disease can be achieved by a protocolised approach to mid-trimester fetal anatomy ultrasound, underpinned by a programme of sonographer education and training. The cardiac abnormalities most likely to evade prenatal detection are left-sided obstructive lesions.

Utility of Screening Fetal Echocardiograms at aSingle Institution Following Normal Obstetric Ultrasound in Fetuses with Down Syndrome.

Fetal echocardiograms (F-echo) are recommended in all pregnancies when the fetus has Down syndrome (DS) even if there was a prior obstetric scan (OB-scan) that was normal. The utility of a screening F-echo in this high-risk population when an OB-scan is normal is unknown. Goal of this study was to evaluate if any diagnosis of a critical congenital heart disease (CHD) was missed in a fetus with DS who had a normal OB-scan. Secondary goal was to determine if any CHD was missed postnatally when an OB-scan was read as normal. Retrospective chart review of all fetuses that had a F-echo whose indication was DS between 1/1/2010 to 6/30/2022 was performed. Fetuses were included if they had an OB-scan that was read as normal and had a F-echo. Postnatal transthoracic echocardiogram (pTTE) was reviewed when available. Critical CHD was defined as CHD requiring catheterization or surgical intervention < 1month of age. One hundred twenty-two F-echo on fetuses with DS were evaluated, of which 48 met inclusion criteria. OB-scan was performed at 20.4 ± 4.5weeks gestational age and F-echo was performed at 24.0 ± 4.6weeks gestational age. No patient with a normal OB-scan had a diagnosis of a critical CHD by F-echo (n = 48, negative predictive value = 100%). Evaluating those patients that had an OB-scan and a pTTE (n = 38), 14 patients were diagnosed with CHD (muscular ventricular septal defect (VSD) n = 5, perimembraneous VSD n = 3, secundum atrial septal defect (ASD) n = 2, primum ASD n = 1, transitional atrioventricular septal defect (AVSD) n = 2, and aortic valve abnormality n = 1; negative predictive value = 63.2%). F-echo correctly diagnosed 4 of the 14 missed OB-scan CHD (perimembraneous VSD n = 2, muscular VSD n = 1, and transitional AVSD n = 1). Critical CHD was not missed with a normal OB-scan in this high-risk population. F-echo also missed the majority of CHD when an OB-scan was read as normal. The cost/benefit of screening F-echo in fetuses with DS should be evaluated if a normal OB-scan has been performed, considering all these patients would have a pTTE performed per guidelines.

Impact of Prenatal Diagnosis of Critical Congenital Heart Disease on Preoperative and Postoperative Outcomes.

The objective of this study was to assess the relationship of prenatal diagnosis of critical congenital heart disease (CHD) to preoperative and postoperative patient findings. Retrospective analysis of neonates with critical CHD who underwent cardiothoracic surgery at one of four centers in North Carolina between 2008 and 2013. Surgical data collected by sites for submission to the Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) and the North Carolina CHD Lifespan Database were queried. There were 715 patients with STS records; 558 linked to the NC-CHD database. Patients with prenatal diagnosis had a lower incidence of preoperative risk factors, including need for mechanical ventilation and presence of shock. However, prenatally diagnosed patients had worse short-term outcomes, including higher operative mortality, higher incidence of select postoperative complications, and longer LOS. There was no difference in one-year mortality. Our findings are consistent with current literature which suggests that prenatal diagnosis of critical CHD is associated with a more optimized preoperative clinical status. However, we found that patients with prenatal diagnoses had less favorable postoperative outcomes. This needs to be investigated further, but may be secondary to patient-specific factors, such as CHD disease severity.

Use of Pulse Oximetry Pulsatility Index Screening for Critical Congenital Heart Disease.

This study aimed to compare oximetry data (pre- and postductal oxygen saturation [SpO2], pre- and postductal pulsatility index [PI]) in healthy newborns (≥35 weeks' gestational age) to infants who have critical congenital heart disease (CCHD). This is a retrospective analysis of data obtained from electronic medical records, recorded as part of routine pulse oximetry screening (POS) for CCHD in infants born between the years 2013 and 2020. Testing was performed at 24 ± 2 hours of life. Data were analyzed to detect differences in pre- and postductal SpO2 and pre- and postductal PI in healthy newborns compared with infants who have CCHD. Newborns were excluded from analysis if they: (1) had a prenatal diagnosis of CCHD in the medical record, (2) had previously been admitted to the neonatal intensive care unit, or (3) had failed POS but were found no CCHD by diagnostic echocardiography. A total of 88,754 healthy newborns had received POS between the years 2013 and 2020. Of the 88,736 newborn records available for analysis,18 newborns were diagnosed with CCHD. Eight were identified by POS before discharge and 10 were diagnosed after discharge. Infants diagnosed with CCHD by POS had lower pre- and postductal SpO2 compared with normal infants. Their postductal PI was significantly lower. Infants who had CCHD that was not identified by POS had similar pre- and postductal SpO2 values, but their postductal PI was lower. Using a postductal PI cutoff of 1.21 had a receiver operating curve of area under the curve 0.77 (95% confidence interval: 0.672, 0.869) with 74% sensitivity and 61% specificity. In our large cohort of infants born in San Diego County, the postductal PI is lower in infants with CCHD. Given that PI is routinely displayed on every pulse oximeter and the high morbidity of missed CCHD, PI should be incorporated into routine CCHD screening. · Postductal PI is lower in newborn who presented later with congenital heart disease.. · Postductal PI cut-off of 1.21 may help practitioners determine if a newborn is at risk for CCHD.. · This large cohort study demonstrates that a low PI can detect additional CCHD cases..

Early versus late diagnosis of critical congenital heart disease at Sanglah Hospital Denpasar, Bali

Background: Critical congenital heart disease (CCHD) remains significant clinical and public health challenge. Risk of morbidity and mortality in CCHD increases when there is a delay in diagnosis and referral to a tertiary center with expertise in treating these patients. In the last few years, pulse oximetry screening for CCHD in newborns has been added to the list of recommended uniform screening panels and advocated by several health-care authorities. Early detection of CCHD by using pulse oxymetry was recommended by American Academy of Pediatrics (AAP), the American Heart Association, and the American College of Cardiology to improve early identification of infants with CCHD. Objective: To describe early versus late diagnosis of critical congenital heart disease (CCHD) at single tertiary center. Methods: A retrospective observational study was conducted in Sanglah Hospital, Bali. Data collected from medical records. Early diagnosis defined as diagnosis which made during prenatal examination or before birth hospital dischare. Late diagnosis defined as diagnosis which made after birth hospital discharge, after 3 days of birth, or even at death. Diagnosis of CCHD was retrieved based on echocardiography examination. Results: From June 2016 to February2020 we found 86 CCHD cases which were tetralogy of Fallot (41 cases), pulmonary atresia (15 cases), transposition of great arteries (14 cases), total anomalous pulmonary venous return (4 cases), tricuspid atresia (3 cases), truncus arteriosus (3 cases), and hypoplastic left heart syndrome (1 case). Only 26% cases of children with CCHD were diagnosed early, mostly came with chief complaint bluish appearance. Range of oxygen saturation at diagnosis varied from 51-90%. Among cases with late diagnosis, the most common defect was tetralogy of Fallot. Most late diagnosed CCHD came because of referral from other hospitals or pediatricians. Conclusion: The rate of delayed CCHD diagnosis still occurs in 74%. Factors that might be contribute to late CCHD diagnosis include certain CCHD types, nontertiary hospital nursery and absence of clinical findings.

Machine Learning to Predict Executive Function in Adolescents with Repaired d-Transposition of the Great Arteries, Tetralogy of Fallot, and Fontan Palliation

To identify predictors of impaired executive function in adolescents after surgical repair of critical congenital heart disease (CHD). We analyzed patient factors, medical and surgical history, and family social class from 3 single-center studies of adolescents with d-transposition of the great arteries (d-TGA), tetralogy of Fallot (TOF), and Fontan repair. Machine learning models were developed using recursive partitioning to predict an executive function composite score based on five subtests (population mean 10, SD 3) of the Delis-Kaplan Executive Function System. The sample included 386 patients (139 d-TGA, 91 TOF, 156 Fontan) of age 15.1±2.1 (mean±SD) years and an executive function composite score of 8.6±2.4. Family social class emerged as the most important predictive factor. The lowest (worst) mean executive function score (5.3) occurred in patients with low to medium social class (Hollingshead index <56) with one or more neurologic events and a diagnosis of TOF. The highest (best) mean score (9.7) occurred in subjects with high social class (Hollingshead index ≥56) and shorter duration of deep hypothermic circulatory arrest. Other factors predicting lower executive function scores included low birth weight and a greater number of catheterizations. In regression tree modeling, family social class was the strongest predictor of executive function in adolescents with critical CHD, even in the presence of medical risk factors. Additional predictors included CHD diagnosis, birth weight, neurologic events, and number of procedures. These data highlight the importance of social class in mitigating risks of executive dysfunction in CHD.

CeRebrUm and CardIac Protection with ALlopurinol in Neonates with Critical Congenital Heart Disease Requiring Cardiac Surgery with Cardiopulmonary Bypass (CRUCIAL): study protocol of a phase III, randomized, quadruple-blinded, placebo-controlled, Dutch multicenter trial

BackgroundNeonates with critical congenital heart disease (CCHD) undergoing cardiac surgery with cardiopulmonary bypass (CPB) are at risk of brain injury that may result in adverse neurodevelopment. To date, no therapy is available to improve long-term neurodevelopmental outcomes of CCHD neonates. Allopurinol, a xanthine oxidase inhibitor, prevents the formation of reactive oxygen and nitrogen species, thereby limiting cell damage during reperfusion and reoxygenation to the brain and heart. Animal and neonatal studies suggest that allopurinol reduces hypoxic-ischemic brain injury and is cardioprotective and safe. This trial aims to test the hypothesis that allopurinol administration in CCHD neonates will result in a 20% reduction in moderate to severe ischemic and hemorrhagic brain injury.MethodsThis is a phase III, randomized, quadruple-blinded, placebo-controlled, multicenter trial. Neonates with a prenatal or postnatal CCHD diagnosis requiring cardiac surgery with CPB in the first 4 weeks after birth are eligible to participate. Allopurinol or mannitol-placebo will be administered intravenously in 2 doses early postnatally in neonates diagnosed antenatally and 3 doses perioperatively of 20 mg/kg each in all neonates. The primary outcome is a composite endpoint of moderate/severe ischemic or hemorrhagic brain injury on early postoperative MRI, being too unstable for postoperative MRI, or mortality within 1 month following CPB. A total of 236 patients (n = 188 with prenatal diagnosis) is required to demonstrate a reduction of the primary outcome incidence by 20% in the prenatal group and by 9% in the postnatal group (power 80%; overall type 1 error controlled at 5%, two-sided), including 1 interim analysis at n = 118 (n = 94 with prenatal diagnosis) with the option to stop early for efficacy. Secondary outcomes include preoperative and postoperative brain injury severity, white matter injury volume (MRI), and cardiac function (echocardiography); postnatal and postoperative seizure activity (aEEG) and regional cerebral oxygen saturation (NIRS); neurodevelopment at 3 months (general movements); motor, cognitive, and language development and quality of life at 24 months; and safety and cost-effectiveness of allopurinol.DiscussionThis trial will investigate whether allopurinol administered directly after birth and around cardiac surgery reduces moderate/severe ischemic and hemorrhagic brain injury and improves cardiac function and neurodevelopmental outcome in CCHD neonates.Trial registrationEudraCT 2017-004596-31. Registered on November 14, 2017. ClinicalTrials.gov NCT04217421. Registered on January 3, 2020

What is Known About Critical Congenital Heart Disease Diagnosis and Management Experiences From the Perspectives of Family and Healthcare Providers? A Systematic Integrative Literature Review

The experience of diagnosis, decision-making and management of Critical Congenital Heart Disease (CCHD) is complex and taxing for families and clinicians. We systematically reviewed evidence relating to the family and healthcare provider experience of CCHD diagnosis and its management.

Can urinary biomarkers predict acute kidney injury in newborns with critical congenital heart disease?

Background/aim Congenital heart disease (CHD) is the most common congenital malformation group and is the leading cause of newborn mortality in developed countries. Most of the infants with CHD develop preoperative or postoperative acute kidney injury (AKI). Acute kidney injury may develop before the serum creatinine rise and oliguria. Urinary biomarkers such as kidney injury molecule-1 (KIM-1), neutrophil gelatinase-associated lipocalin (NGAL), interleukin (IL)-18, and cystatin C may predict AKI in patients with critical CHD (CCHD) before the serum creatinine rise. In this study, we aimed to determine the AKI incidence among newborn patients with CCHD and investigate the predictivity of urinary biomarkers for AKI. Materials and methods Newborns with a gestational age >34 weeks and birth weight >1500 g with a diagnosis of CCHD were enrolled in the study. Blood and urine samples were collected at birth, during the first 24–48 h, and in the preoperative and postoperative periods. Results A total of 53 CCHD patients requiring surgery during the neonatal period were enrolled in the study. The 24–48 h KIM-1 levels of the cases with exitus were higher (P = 0.007). The 24–48 h cystatin C and preoperative NGAL levels were higher in patients with postoperative AKI (P = 0.02). ConclusionIn newborns with CCHD, high KIM-1 levels may predict mortality, whereas high cystatin C and preoperative NGAL levels may be indicative of AKI. These biomarkers deserve further investigation in larger study populations.

203 Racial and ethnic disparities among diagnosed critical congenital heart disease

Critical congenital heart disease (CCHD) is defined as structural disease requiring surgery or catheter intervention during the first 30 days of life, can be diagnosed on prenatal ultrasound. Prenatal diagnosis can reduce morbidity and mortality. The purpose of this study was to determine if race and socioeconomic status (SES) impacts the rate of prenatal diagnosis of CCHD. We conducted a retrospective chart review of neonates at a single, tertiary pediatric cardiology practice from 2007-2018 with a diagnosis of CCHD. Neonates with prenatal diagnosis were compared to neonates diagnosed postnatally by: race/ethnicity, SES and infant mortality. SES was assessed using primary insurance and income quartile by zip code to provide estimated median household income. Seven diagnoses were targeted and divided into three groups based on prenatal ultrasound views that would be expected to make the diagnosis: four chamber, outflow tract, and other views. Data were analyzed using Fisher’s exact test and pairwise comparison if the Fischer’s test was statistically significant. A p-value < 0.05 was statistically significant. We identified 185 cases of CCHD; 102(55.2%) diagnosed prenatally, 83 (44.8%) diagnosed postnatally. Only three ethnic groups had adequate cases for analysis. Rate of prenatal diagnosis did not differ significantly by race/ethnicity (p=0.411) nor did postnatal diagnosis (p=0.499) (Table 1). Rates of prenatal or postnatal diagnosis also did not differ significantly by parental SES income (p=0.706). Infant mortality was higher in Blacks & Hispanics vs. Caucasians (p < 0.001) (Table 1 and 2). Infant mortality prior to 1 year of age was significantly associated with parental SES income: 71% had an annual salary <$50,000 vs. 27% (p <0.001; Table 2). Rate of prenatal detection of CCHD did not differ by race/ethnicity and SES. However, Black and Hispanic neonates had significantly higher infant mortality rates vs. Caucasian neonates. Parental SES was significantly lower in cases of infants who died in the first year of life.View Large Image Figure ViewerDownload Hi-res image Download (PPT)

Comparing risk factors associated with the late detection of critical congenital heart disease at different facility levels

Critical congenital heart disease (CCHD) requires surgery or catheter intervention within the first year of life; delayed diagnoses result in worsened outcomes. In Japan, there are few reports of delayed CCHD diagnosis. We investigated the diagnoses and factors associated with the late detection of CCHD. This retrospective cohort study evaluated 88 CCHD infants admitted to a level IV facility. We compared the late detection rates across facility levels of neonatal care and CCHD characteristics. Critical congenital heart disease was identified prenatally in 46 (52%) infants: early (≤3 days postnatally) in 29 (33%) and late (≥4 days postnatally) in 13 (15%). The oxygen saturation of 27 of 29 infants with early detection and 7 of 13 infants with late detection was measured using pulse oximetry within 3 days postnatally. Factors associated with the late detection of CCHD were lack of clinical recognition of symptoms in five infants, referral to higher-level facilities after discharge in four infants, and definitive diagnosis not confirmed using echocardiography in four infants. The most common factors associated with late detection were referral to higher-level facilities after discharge in level I facilities and definitive diagnosis not confirmed using echocardiography in level II facilities. Critical congenital heart disease may require advanced knowledge and echocardiographic techniques for diagnosis. Pulse oximetry and telemedicine should also be incorporated in the diagnostic algorithm. Improvement in these factors might contribute to reducing the late detection of CCHD.

Socioeconomic barriers to prenatal diagnosis of critical congenital heart disease.

The study was designed to assess the impact of socioeconomic barriers on the rate of prenatal diagnosis of critical congenital heart disease (CCHD). This was a retrospective review of the Medicaid analytic extract (MAX) dataset, a national Medicaid administrative claims database with linked maternal-infant claims, from 2007 to 2012. Infants with CCHD were identified by searching for International Classification of Diseases (ICD) 9 codes and Procedural Coding System (PCS) codes for CCHD within the first 6 months after the delivery date. Multivariate logistic regression was used to evaluate the effect of maternal and socioeconomic factors on the prenatal diagnosis rate. There were 4702 mother-infant dyads included in the analysis. The prenatal diagnosis rate of CCHD was 27.9%. Factors independently associated with odds of prenatal diagnosis of CCHD were presence of maternal diabetes (OR, 2.055; P < .001), ZIP code level median household income (OR, 1.005; P = .015), sonographer labor quotient (OR, 1.804; P = .047), the year of the delivery (OR, 1.155; P < .001), and needing a view other than a 4 chamber or outflow tract view to obtain the diagnosis (OR, 0.383; P < .001). Maternal health, diabetes, socioeconomic factors, and access to sonographers impacts prenatal diagnosis of CCHD.

Oxygen saturation among newborns in the first 10 hours of life to detect Critical Congenital Heart Disease - Ductus Dependent

ABSTRACT Delay diagnosis of Critical Congenital Heart Disease (CHD) can be associated with sudden clinical deterioration and dangerous cardiovascular conditions. The oxygen saturation screening among newborns in the first 10 hours of life is essential for early detection of critical CHD. This study aims to prove that measuring oxygen saturation among newborns in the first 10 hours of life can detect critical CHD. This study is a diagnostic experimental with consecutive sampling subjects in the infant care unit of Dr. Soetomo Hospital, including all newborns with birth weight ≥ 1500 grams and oxygen saturation at ≥ 1 hour of age below 90%. The measurement of oxygen saturation uses fingertip pulse oximetry in the right hand and foot at the age of 10 hours. A "positive oxygen saturation" is defined as oxygen saturation ≤ 85% or different oxygen saturation ≥ 3%, while a "negative oxygen saturation" is when the oxygen saturation is 85% to 90% or different oxygen saturation is 3%. Echocardiography is performed for the gold standard. From November 2019 to January 2020, 11 newborns underwent an oxygen saturation examination. Five subjects (45.46%) in the category of positive oxygen saturation, echocardiographic showed all Critical CHD (100%). Six subjects (54.54%) with negative oxygen saturation category, echocardiographic results showed two critical CHD (33.34%) and four non-critical CHD (66.66%). Fisher's exact test p &lt; 0.005 (α). The diagnostic oxygen saturation test among newborns at 10 hours of life shows ≤85%, all subject’s echocardiography (100%) shows detection of critical CHD, while saturation 85% to 90% has of 33.3% for detection of critical CHD. The sensitivity and specificity of oxygen saturation for early diagnosis of critical CHD are 100% and 67%, respectively. Keywords: critical congenital heart disease, oxygen saturation, fingertip pulse oximetry, diagnostic tests*Corresponding Author: wfatchul045@gmail.com

Pulse Oximetry Screening Has Not Changed Timing of Diagnosis or Mortality of Critical Congenital Heart Disease.

This study evaluates the effectiveness of mandatory pulse oximetry screening. The objective is to evaluate whether mandatory pulse oximetry testing had decreased the late critical congenital heart disease (CCHD) diagnosis rate and reduced mortality in neonatal subjects. This was a single center, retrospective cohort study comparing the timing of diagnosis of CCHD between neonates undergoing cardiac surgery in 2009-2010, prior to mandatory pulse oximetry screening, and neonates in 2015-2016, after mandatory pulse oximetry screening was instituted. Follow-up was for 1year. We defined CCHD as lesions requiring surgical correction within 30days of life. Exclusions included: pacemaker insertions, vascular ring divisions, closure of patent ductus arteriosus, arterial cutdown, or extracorporeal membrane oxygenation cannulation without structural heart disease as the sole procedure, or if subjects were born at home. Infants diagnosed prior to discharge from birth hospital were defined as early postnatal; late postnatal subjects were diagnosed after birth hospital discharge. In-hospital mortality and 1-year mortality were measured. A total of 527 neonates were included; 251 (47.6%) comprised the pre-mandatory pulse oximetry screening cohort (2009-2010). Only 3.6% of the 2009-2010 cohort and 4.3% of the 2015-2016 cohort were diagnosed late (p = 0.66). One-year mortality decreased during the study period (17.2% in 2009-2010 vs 10.5% in 2015-2016, p = 0.03). There were no deaths in the late CCHD diagnosis groups. Mandatory pulse oximetry screening legislation has not changed the late postnatal diagnosis rate at our institution. Mortality for neonatal CCHD has declined, but this decline is not attributable to mandatory pulse oximetry screening.

Birth prevalence and late diagnosis of critical congenital heart disease: A population-based study from a middle-income country.

Aims:There are limited data regarding critical congenital heart disease (CCHD) from middle-income countries (MIC). This study aims to determine the birth prevalence, rate of late diagnosis, and influence of timing of diagnosis on the outcome of CCHD.Setting and Design:Retrospective observational cohort study in the State of Johor, Malaysia.Subjects and Methods:All infants born between January 2006 and December 2015 with a diagnosis of CCHD, defined as infants with duct-dependent lesions or cyanotic heart disease who may die without early intervention. The late diagnosis was defined as a diagnosis of CCHD after 3 days of age.Results:Congenital heart disease was diagnosed in 3557 of 531,904 live-born infants and were critical in 668 (18.7%). Of 668, 347 (52%) had duct-dependent pulmonary circulation. The birth prevalence of CCHD was 1.26 (95% confidence interval: 1.16–1.35) per 1000 live births, with no significant increase over time. The median age of diagnosis was 4 days (Q1 1, Q3 26), with 61 (9.1%) detected prenatally, and 342 (51.2%) detected late. The highest rate of late diagnosis was observed in coarctation of the aorta with a rate of 74%. Trend analysis shows a statistically significant reduction of late diagnosis and a significant increase in prenatal detection. However, Cox regression analysis shows the timing of diagnosis does not affect the outcome of CCHD.Conclusions:Due to limited resources in the MIC, the late diagnosis of CCHD is high but does not affect the outcome. Nevertheless, the timing of diagnosis has improved over time.

Cost-effectiveness analysis of newborn pulse oximetry screening to detect critical congenital heart disease in Colombia

BackgroundIn many countries, economic assessments of the routine use of pulse oximetry in the detection of Critical Congenital Heart Disease (CCHD) at birth has not yet been carried out. CCHDs necessarily require medical intervention within the first months of life. This assessment is a priority in low and medium resource countries. The purpose of this study was to assess the cost-effectiveness (CE) relation of pulse oximetry in the detection of cases of CCHD in Colombia.MethodsA full economic assessment of the cost-effectiveness type was conducted from the perspective of society. A decision tree was constructed to establish a comparison between newborn physical examination plus pulse oximetry, versus physical examination alone, in the diagnosis of CCHDs. The sensitivity and specificity of pulse oximetry were estimated from a systematic review of the literature; to assess resource use, micro-costing analyses and surveys were conducted. The time horizon of the economic evaluation was the first week after birth and until the first year of life. The incremental cost-effectiveness ratio (ICER) was determined and, to control for uncertainty, deterministic and probabilistic sensitivity analysis were made, including the adoption of different scenarios of budgetary impact. All costs are expressed in US dollars from 2017, using the average exchange rate for 2017 [$2,951.15 COP for 1 dollar].ResultsThe costs of pulse oximetry screening plus physical examination were $102; $7 higher than physical examination alone. The effectiveness of pulse oximetry plus the physical examination was 0.93; that is, 0.07 more than the physical examination on its own. The ICER was $100 for pulse oximetry screening; that is, if one wishes to increase 1% the probability of a correct CCHD diagnosis, this amount would have to be invested. A willingness to pay of $26.292 USD (direct medical cost) per probability of a correct CCHD diagnosis was assumed.ConclusionsAt current rates and from the perspective of society, newborn pulse oximetry screening at 24 h in addition to physical examination, and considering a time horizon of 1 week, is a cost-effective strategy in the early diagnosis of CCHDs in Colombia.Trial registration “retrospectively registered”.