Diagnosis Of Congenital Heart Defects Research Articles

Special statement: Proposed quality metrics to assess accuracy of prenatal detection of congenital heart defects

Congenital heart defects are a leading cause of neonatal morbidity and mortality. Accurate prenatal diagnosis of congenital heart defects can reduce morbidity and mortality by improving prenatal care, facilitating predelivery pediatric cardiology consultation, and directing delivery to facilities with resources to manage the complex medical and surgical needs of newborns with congenital heart defects. Unfortunately, less than one half of congenital heart defect cases are detected prenatally, resulting in lost opportunities for counseling, shared decision-making, and delivery at an appropriate facility. Quality improvement initiatives to improve prenatal congenital heart defects detection depend on the ability to measure the rate of detection at the level of providers, facilities, or populations, but no standard metric exists for measuring the detection of congenital heart defects at any level. The need for such a metric was recognized at a Cooperative Workshop held at the 2016 Annual Meeting of the Society for Maternal-Fetal Medicine, which recommended the development of a quality metric to assess the rate of prenatal detection of clinically significant congenital heart defects. In this paper, we propose potential quality metrics to measure prenatal detection of critical congenital heart defects, defined as defects with a high rate of morbidity or mortality or that require surgery or tertiary follow-up. One metric is based on a retrospective approach, assessing whether postnatally diagnosed congenital heart defects had been identified prenatally. Other metrics are based on a prospective approach, assessing the sensitivity and specificity of prenatal diagnosis of congenital heart defects by comparing prenatal ultrasound findings with newborn findings. Potential applications, limitations, challenges, barriers, and value for both approaches are discussed. We conclude that future development of these metrics will depend on an expansion of the International Classification of Diseases system to include specific codes that distinguish fetal congenital heart defects from newborn congenital heart defects and on the development of record systems that facilitate the linkage of fetal records (in the maternal chart) with newborn records.

AIUM Practice Parameter for the Performance of Fetal Echocardiography.

AIUM Practice Parameter for the Performance of Fetal Echocardiography.

EP09.11: Prenatal diagnosis of congenital heart defects and voluntary termination of pregnancy: the attitude of women in Italy

EP09.11: Prenatal diagnosis of congenital heart defects and voluntary termination of pregnancy: the attitude of women in Italy

Prenatal diagnosis of congenital heart defects: experience of the first Fetal Cardiology Unit in Mexico

Objective The purpose of this article was to describe our experience with the prenatal diagnosis of CHD in patients referred to our Fetal Cardiology Unit. Methods Prospective cohort study of consecutive fetuses referred for advanced fetal echocardiography to our Fetal Cardiology Unit during a 3-year period (September 2015–September 2018). Results Totally 809 fetuses were evaluated, with 1263 fetal advanced echocardiographies performed. Suspected cardiac abnormality was the most common indication for referral (62.2%). Only 7.3% of patients had known morbidities or risk factors for CHD. Mean gestational age at first examination was 25.6 ± 6.4 weeks. A total of 528 (65.3%) fetuses were found to have a cardiac defect: 40.7% had isolated CHD while 24.6% had associated anomalies. The most common defects found were ventricular septal defects (20.3%), followed by conotruncal defects (9.7%), hypoplastic left heart syndrome (9.3%), fetal arrhythmias (8.9%), and venous anomalies (8.7%). 31.6% presented abnormal genetic studies, the most frequent being Down syndrome (23/212, 10.8%), followed by DiGeorge syndrome (11/212, 5.2%). Conclusions Prenatal screening and diagnosis of CHD in Mexico are feasible, with suspected cardiac abnormality being the main reason for referral to a specialized Fetal Cardiology Unit. Efforts must be made to make screening available to the general population in the first and second trimesters of pregnancy by fetal medicine or trained specialists, in order to identify fetal CHD and offer advanced echocardiography, genetic studies, timely fetal cardiac intervention in selected cases, and delivery in tertiary centers, to improve overall survival.

Surveillance of Congenital Heart Defects among Adolescents at Three U.S. Sites

The prevalence, co-morbidities, and healthcare utilization in adolescents with congenital heart defects (CHDs) is not well understood. Adolescents (11 to 19 years old) with a healthcare encounter between January 1, 2008 (January 1, 2009 for MA) and December 31, 2010 with a CHD diagnosis code were identified from multiple administrative data sources compiled at 3 US sites: Emory University, Atlanta, Georgia (EU); Massachusetts Department of Public Health (MA); and New York State Department of Health (NY). The estimated prevalence for any CHD was 4.77 (EU), 17.29 (MA), and 4.22 (NY) and for severe CHDs was 1.34 (EU), 3.04 (MA), and 0.88 (NY) per 1,000 adolescents. Private or commercial insurance was the most common insurance type for EU and NY, and Medicaid for MA. Inpatient encounters were more frequent in severe CHDs. Cardiac co-morbidities included rhythm and conduction disorders at 20% (EU), 46% (MA), and 9% (NY) as well as heart failure at 3% (EU), 15% (MA), and 2% (NY). Leading noncardiac co-morbidities were respiratory/pulmonary (22% EU, 34% MA, 16% NY), infectious disease (17% EU, 22% MA, 20% NY), non-CHD birth defects (12% EU, 23% MA, 14% NY), gastrointestinal (10% EU, 28% MA, 13% NY), musculoskeletal (10% EU, 32% MA, 11% NY), and mental health (9% EU, 30% MA, 11% NY). In conclusion, this study used a novel approach of uniform CHD definition and variable selection across administrative data sources in 3 sites for the first population-based CHD surveillance of adolescents in the United States. High resource utilization and co-morbidities illustrate ongoing significant burden of disease in this vulnerable population.

Fetal MRI and prenatal diagnosis of congenital heart defects

Fetal MRI and prenatal diagnosis of congenital heart defects

Co-occurrence of infantile hypertrophic pyloric stenosis and congenital heart defects: a nationwide cohort study.

Recent studies suggest that infantile hypertrophic pyloric stenosis (IHPS) and congenital heart defects (CHDs) may share some genetic risk factors, but little is known about the co-occurrence of the two conditions in patients. Our study cohort included 2,212,756 persons born in Denmark 1977-2013. We identified patients with IHPS and CHD in the National Patient Register. Using log-linear Poisson regression, we estimated the (incidence) rate ratios (RRs) comparing the rate of IHPS among children with a CHD diagnosis (exposed) and the rate among those without such a diagnosis. Twenty-seven thousand three hundred and fifty-seven children in the cohort were diagnosed with CHD out of whom 85 developed IHPS (RR = 2.62, 95% confidence interval (CI) 2.09-3.22]). The results were similar for those with and without other congenital malformations, for preterm and term deliveries, and for both sexes. There was, however, a significant effect of calendar period (P = .003). In the period 1977-1996, the RR of IHPS given a CHD diagnosis was 1.96 (95% CI 1.41-2.64); in the period 1997-2014, the RR was 3.75 (95% CI 2.74-4.99). CHD was associated with an increased risk of IHPS. Further research is needed to delineate molecular-level mechanisms that may affect both conditions.

MEDICAL GENETIC COUNSELING OF WOMEN WITH CONGENITAL HEART DISEASES OF FETUS

Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women.. Materials and methods. The analysis of the results of medical genetic counseling of pregnant women with fetal heart diseases was carried out. The effectiveness of using different methods of prenatal diagnosis in 67 pregnant women is estimated. The data of somatic, genealogical and reproductive anamnesis, biochemical markers of chromosomal pathology of the 1st and 2nd trimester of pregnancy, and the spectrum of the detected fetal heart disease were studied. Results of the research. It was found that 46 (68.7 %) women had somatic diseases: pathology of the cardiovascular system (11.9 %); endocrine system - at 8 (11,9 %); respiratory disease – 3 (4.5 %) and urinary system – 2 (3.0 %). 13 (19.4 %) out of 67 women had acute respiratory viral infections in the first trimester of pregnancy. In 4 (6 %) cases - bad habits. The first time pregnant were 31 (46.3 %) women, 21 (31.3 %) – the second time, 10 (14.9 %) in the third, and 5 (7.5 %) in the fourth or more times. In history, 58 (86.6 %) women did not have reproductive function disorders, 8 (11.9 %) had unauthorized miscarriages and frozen pregnancy. The burden of gynecological anamnesis was observed in 12 (17.9 %) women, and hereditary - in 6 (9.0 %) women. In the structure of congenital defects of the heart, false anatomical anomalies were found more often: hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot - 9 (13.3 %). Biochemical markers of chromosomal pathology in the first trimester in 11 (16.4 %) women recorded indicators that are characteristic of the risk of chromosomal pathology, and in the second trimester – in 9 (13.4 %). Two pregnant women used a NIPT (non-invasive prenatal test) test that did not detect chromosomal abnormalities in the fetus. In 8 cases, invasive prenatal diagnosis of the fetus was recommended, which was carried out by three women, and five refused. Conclusions. The peculiarities of somatic (in 46–68.7 % of women), reproductive (in 8-11.9 % of women) gynecological anamnesis (in 12–17.9 % of women), which can be the risk factors of congenital fetal heart disease, are revealed. In the structure of congenital defects of the heart of the fetus more often revealed hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot – 9 (13.3 %). In 11 (16.4 %) women recorded indicators of biochemical markers, characteristic for the risk of chromosomal pathology, in the first trimester, and – in 9 (13.4 %) pregnant women – in the second trimester. Comparative data on prenatal diagnosis of congenital heart defects in the fetus of chromosomal, monogenic and multifactorial etiology are given. On the basis of the obtained results an algorithm of medical-genetic counseling of this contingent of patients was offered.

Intake of sucrose-sweetened soft beverages during pregnancy and risk of congenital heart defects (CHD) in offspring: a Norwegian pregnancy cohort study.

Studies report increased risk of congenital heart defects (CHD) in the offspring of mothers with diabetes, where high blood glucose levels might confer the risk. We explored the association between intake of sucrose-sweetened soft beverages during pregnancy and risk of CHD. Prospective cohort data with 88,514 pregnant women participating in the Norwegian Mother and Child Cohort Study was linked with information on infant CHD diagnoses from national health registers and the Cardiovascular Diseases in Norway Project. Risk ratios were estimated by fitting generalized linear models and generalized additive models. The prevalence of children with CHD was 12/1000 in this cohort (1049/88,514). Among these, 201 had severe and 848 had non-severe CHD (patent ductus arteriosus; valvular pulmonary stenosis; ventricular septal defect; atrial septal defect). Only non-severe CHD was associated with sucrose-sweetened soft beverages. The adjusted risk ratios (aRR) for non-severe CHD was 1.30 (95% CI 1.07-1.58) for women who consumed 25-70ml/day and 1.27 (95% CI 1.06-1.52) for women who consumed ≥ 70ml/day when compared to those drinking ≤ 25ml/day. Dose-response analyses revealed an association between the risk of non-severe CHD and the increasing exposure to sucrose-sweetened soft beverages, especially for septal defects with aRR = 1.26 (95% CI 1.07-1.47) per tenfold increase in daily intake dose. The findings persisted after adjustment for maternal diabetes or after excluding mothers with diabetes (n = 19). Fruit juices, cordial beverages and artificial sweeteners showed no associations with CHD. The findings suggest that sucrose-sweetened soft beverages may affect the CHD risk in offspring.

Maternal Overweight and Obesity and Risk of Congenital Heart Defects

BackgroundCongenital heart defects are more frequent in offspring of mothers with overweight or obesity. However, associations between maternal overweight and obesity, and risks of complex and specific heart defects are not clear. ObjectivesThis study sought to analyze associations between maternal overweight and obesity severity and rates of complex and specific heart defects. MethodsThis was a population-based cohort study in Sweden, including 2,050,491 live singleton infants born between 1992 and 2012. Data on maternal and infant characteristics, and diagnoses of congenital heart defects were retrieved from nationwide registries. Maternal body mass index (BMI) was categorized as underweight (BMI <18.5 kg/m2), normal weight (BMI 18.5 to <25 kg/m2), overweight (BMI 25 to <30 kg/m2), obesity class I (BMI 30 to <35 kg/m2), class II (BMI 35 to <40 kg/m2), and class III (BMI ≥40 kg/m2). Outcomes included complex heart defects (tetralogy of Fallot, transposition of the great arteries, atrial septal defects [ASD], aortic arch defects, and single-ventricle heart) and subgroups of specific heart defects diagnosed up to 5 years of age. The authors calculated adjusted prevalence rate ratios (PRRs) with 95% confidence intervals. ResultsA total of 28,628 (1.40%, N = 2,050,491) children had at least 1 congenital heart defect. PRRs of aortic arch defects increased with maternal obesity severity. Compared with offspring of normal weight mothers, PRRs of aortic arch defects and transposition of the great arteries were doubled in offspring of mothers with severe obesity. PRRs of ASD and persistent ductus arteriosus in term infants increased with maternal BMI. ConclusionsPRRs of aortic branch defects, ASD, and persistent ductus arteriosus increase with maternal obesity severity.

918: Variable phenotypic presentation of PLD1 associated congenial heart disease in a set of identical triplets

To investigate the underlying etiology of three variable phenotypic congenital heart defects (CHD) in a set of identical triplets. The initial diagnosis of fetal CHD was made during an anatomy scan performed at 20 weeks and 2 days of gestation. Further analysis of the triplet hearts were performed via interval echocardiograms throughout the pregnancy. Post-natal evaluations included neonatal echocardiograms and familial microarray comparative genomic hybridization (aCGH) assays and next generation sequencing (NGS) gene panels. Final diagnoses of cardiac status of infant A: patent foramen ovale; infant B: bicuspid pulmonary valve, pulmonary stenosis, ventricular septal defect, atrial septal defect, and bilateral superior vena cava without evidence of bridge; infant C: functional single ventricle (tricuspid atresia, absent pulmonary valve, right ventricle hypoplasia due to right ventricular septal mass, left ventricle non compaction cardiomyopathy), dual atrioventricular node physiology, and multi-factorial pulmonary hypertension. Postnatal aCGH and NGS were performed on all family members. This allowed for the detection of compound heterozygous changes in the PLD1 gene in all three of the infants. The mother was heterozygous for the missense mutation, c.3142C>G on chromosome 3 in the region of the PLD1 gene. The father was heterozygous for a partial duplication of exon 12-19 in the PLD1 gene. All three infants were found to have compound heterozygous mutations of PLD1, including a partial duplication and a missense mutation. While PLD1 pathogenic variants have been associated with cardiac changes mainly in the valves, this report shows that the same genetic changes in identical siblings can have a dramatic variation in phenotype. It also reveals a new association between left ventricular non-compaction and the PLD1 gene.View Large Image Figure ViewerDownload Hi-res image Download (PPT)

Profile of Fetal Echocardiography in a Tertiary Cardiac Centre of Nepal

Aims: To analyze the fetal echocardiographic diagnosis.Methods: A descriptive study of fetal echocardiographic diagnosis at Shahid Gangalal National Heart Centre between October 2016 to September 2017. Results: Total of 615 fetal echocardiography was performed in 607 pregnancies. Intrauterine heart disease noted in 79 cases. Echogenic intracardiac foci was the most common abnormality (6%) followed by VSD (1.3%), fetal arrhythmia (1.1%), pericardial effusion (1.6%), cardiomyopathy (0.3%), hypoplastic left ventricle (0.6%), DORV (0.3%) and tricuspid atresia (0.4%). Similarly the most common referral for fetal echocardiography was for maternal disorder mostly diabetes mellitus.Conclusion: Fetal echocardiography is an important tool for the antenatal diagnosis of congenital heart defects. Appropriate timing and judicious use increases the sensitivity and improves the perinatal outcome of newborns with congenital heart disease

Expression profile of maternal circulating microRNAs as non-invasive biomarkers for prenatal diagnosis of congenital heart defects

ObjectiveThe discovery of cell free fetal microRNAs (miRNAs) in maternal circulation has opened up novel probabilities for non-invasive prenatal diagnosis. This study aims to investigate circulating miRNAs as potential biomarkers in the serum of pregnant women with congenital heart defect (CHD) fetuses. MethodA total of 110 pregnant women including 50 CHD cases and 60 healthy controls were included in this study. miRNA microarray followed by real-time PCR was used to explore miRNA expression. Receiver operating characteristic (ROC) curves were calculated to assess the diagnostic capability of miRNAs for fetal CHDs. Results38 Serum miRNAs were revealed to be differentially expressed in the CHD group as compared to control group via microarray. Among these, nine down-regulated and three up-regulated miRNAs were validated by real-time PCR. Ten of these miRNAs were rapidly reduced in the normal maternal serum after delivery as compared to before delivery. In particular, we identified a biomarker panel consisting of four miRNAs (miR-142-5p, miR-1275, miR-4666a-3p and miR-3664-3p) capable of distinguishing CHDs from controls (area under the ROC curve (AUC), 0.920; p < 0.0001). ConclusionThe discovery of these dysregulated pregnancy-associated miRNAs in maternal serum may be potential biomarkers for non-invasive prenatal diagnosis of fetal CHDs.

OP22.10: Neonates with congenital heart defects diagnoses prenatally: comparison of mortality of full‐term babies and preterm babies born by Caesarean section

OP22.10: Neonates with congenital heart defects diagnoses prenatally: comparison of mortality of full‐term babies and preterm babies born by Caesarean section

From vascular biology to vascular medicine

Abstract Cardiovascular disorders include various conditions characterized by morphological and functional defects of the heart and vascular system. Molecular biology techniques (in particular DNA sequencing) have recently offered new insights into the etiology of cardiovascular defects, revealing their association with germline as well as somatic mutations. Genetic tests are evaluated on the basis of their analytical and clinical validity, clinical utility, and ethical, legal and social implications. Next generation sequencing is so far the best approach for molecular diagnosis of congenital heart defects and vascular anomalies, the genetic and phenotypic heterogeneity of which makes them difficult to diagnose. Understanding the molecular causes of congenital heart defects and vascular anomalies has permitted clinical trials of drugs targeting affected genes and pathways. The articles in this Special Issue aim to provide guidance for those concerned with diagnosis and research in the field of cardiovascular defects. The approach to genetic testing is discussed.

Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype.

With the increasing availability of chromosomal microarray analysis (CMA) for congenital heart defect (CHD), genetic testing now faces new challenges due to results with uncertain clinical impact. Studies are needed to better define the penetrance of genetic variants. The aim of the study was to examine the association between CMA and CHDs in fetuses with normal karyotype. This was a retrospective study of 190 fetuses with normal karyotype that underwent CMA after a diagnosis of CHD by fetal ultrasound. Invasive prenatal diagnosis was performed between January 2015 and December 2016 at the first affiliated hospital of Air Force Medical University. Chromosomal microarray analysis detected pathogenic copy number variants (pCNVs) in 13/190 (6.84%) fetuses, likely pCNVs in 5/190 (2.63%), and variants of unknown significance (VOUS) in 14/190 (7.37%). Among those with pCNVs, none (0%) yielded a normal live birth. Among those with likely pCNVs, 2/5 (40.0%) yielded a live birth. Among the fetuses with VOUS, 10/14 (71.5%) yielded a live birth. These results highlight the usefulness of CMA for prenatal genetic diagnosis of fetuses with CHDs and normal karyotype. In fetuses with CHD, the application of CMA could increase the detection rate of pCNVs causing CHDs. In this study, some VOUS were likely pathogenic, but additional studies are necessary to confirm these findings.

Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect.

To assess the value of targeted next-generation sequencing (NGS) in prenatal diagnosis of congenital heart defects (CHD) and to investigate the genetic etiology of prenatal CHD. Forty-four fetuses with CHD, normal molecular karyotype and negative chromosomal microarray results underwent targeted NGS. Fetal genomic DNA was extracted directly from amniotic fluid cells in each prenatal case. A customized targeted-NGS panel of 77 CHD-associated genes was designed to detect variants in the coding regions and the splicing sites of these genes. The detected variants were classified as pathogenic, likely pathogenic, of uncertain significance, likely benign or benign, following the guidelines recommended by the American College of Medical Genetics and Genomics. The detection rates of targeted NGS for pathogenic and likely pathogenic variations were 13.6% (6/44) and 2.3% (1/44), respectively. The turnaround time of the test was 3 weeks. The six pathogenic variations were identified on the genes CHD7 (CHARGE syndrome), CITED2 (tetralogy of Fallot, ventricular septal defect and atrial septal defect), ZFPM2 (tetralogy of Fallot), MYH6 (atrial septal defect, familial isolated dilated cardiomyopathy) and, in two cases, KMT2D (Kabuki syndrome). The likely pathogenic variation was detected on JAG1, which is associated with tetralogy of Fallot and Alagille syndrome. Sanger sequencing in the fetuses and their parents indicated that all seven mutations were de novo. Variations of uncertain significance were detected in 79.5% of cases. Targeted NGS in fetuses with isolated and non-isolated CHD achieved a high diagnostic yield in our cohort, with an acceptable turnaround time for the prenatal setting. Our results have important implications for clinical management and genetic counseling. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

2D versus 3D real time ultrasound with live xPlane imaging to visualize aortic and ductal arches: comparison between methods.

BackgroundThe diagnosis of congenital heart defects is challenging, especially for what concerns conotruncal anomalies. Indeed, although the screening techniques of fetal cardiac anomalies have greatly improved, the detection rate of conotruncal anomalies still remains low due to the fact that they are associated with a normal four-chamber view. Therefore, the study aimed to compare real-time three-dimensional echocardiography with live xPlane imaging with two-dimensional (2D) traditional imaging in visualizing ductal and aortic arches during routine echocardiography of the second trimester of gestation.MethodsThis was an observational prospective study including 114 women with uncomplicated, singleton pregnancies. All sonographic studies were performed by two different operators, of them 60 by a first level operator, while 54 by a second level operator. A subanalysis was run in order to evaluate the feasibility and the time needed for the two procedures according to fetal spine position and operator’s experience.ResultsThe measurements with 2D ultrasound were performed in all 114 echocardiographies, while live xPlane imaging was feasible in the 78% of the cases, and this was mainly due to fetal position. The time lapse needed to visualize aortic and ductal arches was significantly lower when using 2D ultrasound compared to live xPlane imaging (29.56 ± 28.5 s vs. 42.5 ± 38.1 s, P = 0.006 for aortic arch; 22.14 ± 17.8 s vs. 37.1 ± 33.8 s, P = 0.001 for ductal arch), also when performing a subanalysis according to operators’ experience (P < 0.05 for all comparisons). Feasibility of live xPlane proved to be correlated with the position of the fetal spine and the operator’s experience.DiscussionTo find a reproducible and standardized method to detect fetal heart defects may bring a great benefit for both patients and operators. In this scenario live xPlane imaging is a novel method to visualize ductal and aortic arches. We found that the position of the fetal spine may affect the feasibility of the method since, when the fetal back is anterior or transverse, the visualization of the correct view of three-vessels and trachea in order to set the reference line properly becomes more challenging. In addition, the fetal spine position influences the duration of the ultrasound examination. Regarding operator’s skills and experience, in our study a first level operator was able to perform the complete 2D and xPlane examination in a lower number of cases compared to second level operators. In addition, the time required for the complete examination was higher for first level operators. This means that this technique is based on an adequate operators’ expertise.

Time to diagnosis, socioeconomic and clinical features of patients with congenital heart diseases in a teaching hospital in Nigeria

Background: Studies have shown that there is an increase in the risk of congenital heart defects (CHD) in the lower socioeconomic classes. A structured and functional referral system is key to effective health care delivery. In Nigeria, there are three tiers of health care but poor referral system has resulted in high patient burden at the tertiary hospitals. The study aimed to describe socioeconomic, clinical features, and time to diagnosis of patients with CHD in a teaching hospital in Nigeria. Methods: A cross-sectional and descriptive study, carried out at the Lagos State University Teaching Hospital (LASUTH), as part of a large study from April 2008 to March 2012. A structured questionnaire was used after obtaining an informed consent. History and physical examinations were performed in all patients with features suggestive of CHD. Echocardiography diagnosis of CHD was made by a Paediatric cardiologist. Relationship between duration of illness prior to diagnosis and social classification of the caregivers was evaluated. Analysis was done using Microsoft Excel statistical software supplemented by MegaStat statistical package. Probability values less than 0.05 were considered statistically significant. Results: A total of 300 patients with structural heart disease participated in the study. The age range was 2 days to 35 years with a mean ± SD of 32.50±48.06 months. About 15% of the subjects presented to the tertiary centre without referral. Fast breathing was the most common presenting complaints (57%) followed by cough (33%). Up to 70% presented more than a year after the onset of illness. There was no statistically significance difference in the various social groups in the duration of illness before presentation (P=0.58). Conclusions: There is a need to develop an educational program to increase awareness on the symptoms suggestive of congenital heart disease and importance of early presentation. There is also a need to develop a referral chain among health system in the region.

A Review Study on the Prenatal Diagnosis of Congenital Heart Disease Using Fetal Echocardiography

Congenital heart defect (CHD) is the most common type of congenital malformation in live births with a wide and variable spectrum in each population. The prevalence of this malformation is reported to be 8 cases per 1,000 live births. The CHD is also accompanied by multiple complications, such as prematurity, low birth weight, termination of pregnancy, mortality, and morbidity. The concomitant of this defect with extra-cardiac anomalies result in the enhancement of mortality and morbidity. Due to the importance of CHD and role of genetic and environmental factors on CHD, prenatal diagnosis is an issue of fundamental importance. The prenatal diagnosis increases the survival rate and reduces complications, mortality, and morbidity. Fetal echocardiography as a non-invasive and safe method enables the pediatric cardiologists to diagnose CHD prenatally with high sensitivity and specificity. Regarding this, the present study was conducted with the aim of reviewing the literature on the prenatal diagnosis of CHD using fetal echocardiography. Based on the reviewed studies, the role of fetal echocardiography and its indications were defined. Accordingly, fetal echocardiography was suggested as a profitable method for the prenatal diagnosis of CHDs even in the low-risk pregnancies.