“…If a mother is appropriately referred for and undergoes fetal echocardiography, there is a very high likelihood of an accurate prenatal CHD diagnosis, as a comprehensive fetal echocardiogram has been previously shown to result in highly accurate diagnosis of CHD. (14,15) Our study demonstrated a strong association between having a perinatologist as the highest level obstetrical provider and prenatal diagnosis of CHD. Several factors noted to be associated with a higher likelihood of prenatal diagnosis, such as advanced maternal age and extracardiac anomalies, would also be indications for referral to a perinatologist.…”
Section: Discussionmentioning
confidence: 64%
“…(13) A prior retrospective analysis of patients seen at Rady Children's Hospital compared pre-2013-guideline and post-guideline detection rates of critical out ow tract anomalies, demonstrated that the prenatal detection rate increased only from 52-61%, and hypothesized that the low increase in detection rates was due to suboptimal obstetrical implementation and training on the updated guidelines. ( 13) If a mother is appropriately referred for a fetal echocardiogram, a detailed fetal echocardiogram performed by a specialized fetal cardiac sonographer or cardiologist and reviewed by a pediatric cardiologist with specialized training in advanced imaging results in highly accurate diagnosis of CHD (14,15) and appropriate prenatal multidisciplinary care. This study seeks to determine the contemporary rate of prenatal diagnosis in infants with CCHD and identify maternal-fetal factors and variations in prenatal care that may be potential barriers to prenatal diagnosis.…”
Background:Prenatal diagnosis (preDx) of critical congenital heart disease (CCHD) decreases neonatal morbidity and mortality. Obstetrical fetal cardiac imaging guidelines in 2013 aimed to increase preDx.
Objective: To determine the contemporary preDx rate of CCHD and identify maternal-fetal factors and variations in prenatal care that may be potential barriers.
Methods: This retrospective single center study evaluated maternal demographics and characteristics of infants with CCHD (requiring cardiac catheterization or surgical intervention before 6 months-old) between 2016 and 2019.
Results:58% of the 339 infants with CCHD had preDx. Infants with preDx were more likely to have mothers ≥ 35 years-old (p=0.028), family history of CHD (p=0.017), health insurance (p=0.002), or anatomic scan with perinatology (p<0.001). Hispanic infants were less likely to have preDx (45.6%, p=0.005). PreDx rates were higher in infants with extracardiac/genetic anomalies (p<0.001) and significantly different between CCHD subtypes (76% for single ventricle, 51% for biventricular, 59% for proximal outflow tract anomalies, and 48% for distal great artery anomalies; p=0.024). In infants without preDx, 25% of their mothers had indication for, but did not undergo, fetal echocardiography.
Conclusion:PreDx rates of CCHD remains inadequate across subtypes detectable by standard fetal cardiac screening views, particularly in uninsured and Hispanic communities.
“…If a mother is appropriately referred for and undergoes fetal echocardiography, there is a very high likelihood of an accurate prenatal CHD diagnosis, as a comprehensive fetal echocardiogram has been previously shown to result in highly accurate diagnosis of CHD. (14,15) Our study demonstrated a strong association between having a perinatologist as the highest level obstetrical provider and prenatal diagnosis of CHD. Several factors noted to be associated with a higher likelihood of prenatal diagnosis, such as advanced maternal age and extracardiac anomalies, would also be indications for referral to a perinatologist.…”
Section: Discussionmentioning
confidence: 64%
“…(13) A prior retrospective analysis of patients seen at Rady Children's Hospital compared pre-2013-guideline and post-guideline detection rates of critical out ow tract anomalies, demonstrated that the prenatal detection rate increased only from 52-61%, and hypothesized that the low increase in detection rates was due to suboptimal obstetrical implementation and training on the updated guidelines. ( 13) If a mother is appropriately referred for a fetal echocardiogram, a detailed fetal echocardiogram performed by a specialized fetal cardiac sonographer or cardiologist and reviewed by a pediatric cardiologist with specialized training in advanced imaging results in highly accurate diagnosis of CHD (14,15) and appropriate prenatal multidisciplinary care. This study seeks to determine the contemporary rate of prenatal diagnosis in infants with CCHD and identify maternal-fetal factors and variations in prenatal care that may be potential barriers to prenatal diagnosis.…”
Background:Prenatal diagnosis (preDx) of critical congenital heart disease (CCHD) decreases neonatal morbidity and mortality. Obstetrical fetal cardiac imaging guidelines in 2013 aimed to increase preDx.
Objective: To determine the contemporary preDx rate of CCHD and identify maternal-fetal factors and variations in prenatal care that may be potential barriers.
Methods: This retrospective single center study evaluated maternal demographics and characteristics of infants with CCHD (requiring cardiac catheterization or surgical intervention before 6 months-old) between 2016 and 2019.
Results:58% of the 339 infants with CCHD had preDx. Infants with preDx were more likely to have mothers ≥ 35 years-old (p=0.028), family history of CHD (p=0.017), health insurance (p=0.002), or anatomic scan with perinatology (p<0.001). Hispanic infants were less likely to have preDx (45.6%, p=0.005). PreDx rates were higher in infants with extracardiac/genetic anomalies (p<0.001) and significantly different between CCHD subtypes (76% for single ventricle, 51% for biventricular, 59% for proximal outflow tract anomalies, and 48% for distal great artery anomalies; p=0.024). In infants without preDx, 25% of their mothers had indication for, but did not undergo, fetal echocardiography.
Conclusion:PreDx rates of CCHD remains inadequate across subtypes detectable by standard fetal cardiac screening views, particularly in uninsured and Hispanic communities.
“…Small or medium-sized ventricular septal defects, atrial septal defects, partial anomalous pulmonary venous return, mild coarctation of the aorta, and coronary anomalies may not be detected even with good image quality [19,58,59 ▪ ]. Subtle differences in valve morphology such as a well functioning bicuspid aortic valve may not be detected [60 ▪ ].…”
Section: Components Of a Fetal Echocardiogrammentioning
confidence: 99%
“…Fetal echocardiography informs delivery and postnatal management [104]. Serial fetal echocardiograms are particularly helpful when there is a suspected risk for disease progression as in the case of valvar disease, chamber or vessel hypoplasia, cardiac dysfunction, arrhythmias, or concern for developing hydrops [105–108]; serial imaging is also helpful to refine the diagnosis if the initial fetal echocardiogram is limited [58,60 ▪ ]. Initial findings at diagnosis, and changes noted on serial follow-up, may guide location, timing, and mode of delivery.…”
Purpose of review
The aim of this study was to provide pediatric providers with a review of the diagnosis and management of fetal cardiac disease in the current era.
Recent findings
Prenatal detection of congenital heart disease (CHD) has improved but is still imperfect. In experienced hands, fetal echocardiography can detect severe CHD as early as the first trimester and a majority of more subtle conditions in the second and third trimesters. Beyond detection, a prenatal diagnosis allows for lesion-specific counseling for families as well as for development of a multidisciplinary perinatal management plan, which may involve in-utero treatment. Given the diversity of cardiac diagnoses and the rarity of some, collaborative multicenter fetal cardiac research has gained momentum in recent years.
Summary
Accurate diagnosis of fetal cardiac disease allows for appropriate counseling, pregnancy and delivery planning, and optimization of immediate neonatal care. There is potential for improving fetal CHD detection rates. Fetal interventions are available for certain conditions, and fetal and pediatric cardiac centers have developed management plans specific to the expected postnatal physiology.
“…Earlier prenatal detection is preferable, as it allows for parental counseling on prognosis and the option of pregnancy termination in most North American jurisdictions. Diagnosis of fetal CHD later in pregnancy results in limited options for the parents, reduced accuracy of diagnosis 7 and potential fetal demise with progressive disease 8,9 .…”
What are the novel findings of this work?Of 1405 cases of major congenital heart disease (CHD), a prenatal diagnosis was made in 814. Residence in rural areas, compared with residence < 100 km from a tertiary fetal cardiology center, was associated with a 7% lower rate of prenatal diagnosis of major CHD and 19% higher rate of late diagnosis i.e. after 22 weeks' gestation. Low socioeconomic status was associated with lower prenatal-diagnosis rate in metropolitan regions and higher risk of prenatal diagnosis after 22 weeks overall.
What are the clinical implications of this work?Despite universal healthcare in Alberta, Canada, socioeconomic and regional inequalities in prenatal fetal cardiac diagnoses exist. To improve CHD outcomes, further efforts are required to identify modifiable underlying reasons for these findings and to guide novel and targeted health service delivery.
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