Importance of Relationship between Ductus and Isthmus in Fetal Diagnosis of Coarctation of Aorta.

BACKGROUND: The prenatal diagnosis of coarctation of aorta (CoA) can prove problematic, with relatively high false-positive and false-negative rates. This significantly impacts both prenatal counseling and postnatal management. We sought to evaluate a variety of prenatal echo indices to determine which would best predict neonatal CoA. METHODS: Fetal echocardiograms of those with prenatal diagnosis of COA were analyzed for the following: diameter of cardiac valves, ascending aorta, distal transverse arch, aortic isthmus, and ductus; right (RV) and left ventricular (LV) length and end-diastolic area and isthmus-ductal angle (IDA). Ratios of RV: LV area, aortic: pulmonary valve diameter, mitral: tricuspid valve ratio (MV:TV ratio), and isthmus: ductal diameter (IDD) were calculated. These measures were compared between those with CoA after birth (CoA group) and those without (no CoA group). RESULTS: Of the 62 subjects, 27 were in CoA and 35 in no CoA group. CoA group had a significantly smaller mitral valve, MV:TV ratio, IDD, and IDA compared to no CoA group. The ROC curves for each of these significant measures showed that mitral valve, IDD, and IDA had an AUC of 0.72, 0.80, and 0.83, respectively. Multiple variable model using at least two of these measures had 85% sensitivity and 60% specificity. CONCLUSIONS: A smaller mitral valve, MV:TV ratio, IDD, and IDA are associated with development of neonatal coarctation. In cases with suspected prenatal diagnosis of CoA, careful evaluation of the relation between the isthmus and the ductus arteriosus using IDD and IDA may enhance the diagnostic accuracy of fetal echocardiograms.

Who should be referred? An evaluation of referral indications for fetal echocardiography in the detection of structural congenital heart disease.

Although fetal echocardiography is a useful tool for earlier detection of congenital heart disease (CHD), no clear, evidence-based appropriate use criteria exist. This study aimed to determine those referral indications most predictive of CHD. A retrospective cohort study of fetal echocardiograms was conducted at a single tertiary care center. Binomial proportion tests were used to compare likelihoods of structural CHD detection based on primary indication with the general population prevalence of 0.8%. Fetal echocardiograms of 2,380 pregnancies were performed, with CHD detected in 29.3% of these pregnancies. Patients referred for suspected CHD on screening ultrasound had the highest prevalence of CHD. Of the women without a history of cardiac anomalies shown on screening ultrasound, those with extracardiac anomalies or known chromosomal abnormalities had the highest prevalence of CHD. Screening ultrasound currently is the most useful method for determining who should be referred for fetal echocardiography, with a high prevalence of CHD found. For women with normal cardiac screening ultrasound results, fetal factors such as extracardiac anomalies and chromosomal abnormalities are more predictive of CHD than maternal or familial factors.

Relation of prenatal diagnosis with one-year survival rate for infants with congenital heart disease.

Prenatal diagnosis of congenital heart defects (CHDs) is increasingly common, but it is still unclear whether it translates to improved postoperative outcomes. We performed a retrospective cohort study of all infants (aged <1 year) who underwent surgery for CHDs from 2006 to 2011 at a single institution. Primary outcomes were in-hospital and 1-year mortality rates. Secondary outcomes were readmission within 30 days of discharge, postoperative length of intensive care unit and hospital stay, unplanned reoperation, and extracorporeal membrane oxygenation use. We used chi-square analyses, Wilcoxon rank-sum tests, Kaplan-Meier survival curves, and adjusted Cox proportional hazards models to compare outcomes. Of the 1,642 patients with CHDs, 539 (33%) were diagnosed prenatally. Patients with prenatal diagnoses were of a younger age and less weight at the time of surgery, had greater Risk Adjustment for Congenital Heart Surgery scores, and were more likely to be white, to have an identified syndrome, or to be born at term. Compared with those diagnosed postnatally, those diagnosed prenatally had a significantly higher unadjusted 1-year mortality rate (11% vs 5.5%, respectively, p = 0.03). Controlling for weight, surgical severity, race, age at surgery, prematurity, and the presence or absence of genetic syndrome, patients with prenatal diagnoses had significantly greater mortality at 1 year (adjusted hazard ratio 1.5, p = 0.03), as well as significantly longer intensive care unit and hospital stays. Infants with CHDs diagnosed prenatally had worse outcomes compared with those diagnosed postnatally. Prenatal diagnosis likely captures patients with more severe phenotypes within given surgical risk categories and even within diagnoses and thus may be an important prognostic factor when counseling families.

Usefulness of bone marrow transplantation in the Hurler syndrome.

The Hurler syndrome, an autosomal recessive storage disease of childhood, leads to death within the first decade of life from progressive deposition of glycosaminoglycans within the myointima of the coronary arteries and airways. Cardiac ultrasound findings of patients with this syndrome >10 years after successful bone marrow transplantation are described.

Prenatal diagnosis of congenital heart disease: the beginning.

Congenital heart disease (CHD) is the most common life-threatening defect in the first month of life. Its incidence is 8 per 1000 live newborns. Fetal echocardiography is used to screen, diagnose, monitor, and treat congenital heart defects and rhythm abnormalities. Early and improved diagnosis can hopefully impact morbidity, mortality, and emotional well-being of the family. Over the past three decades, fetal echocardiography has evolved into a discipline whereby the diagnosis of congenital heart disease has improved survival and in utero interventions. Continued research, improved technology, and broadened expertise will hopefully allow the health care team to provide better outcomes.