Counseling for fetal heart disease-current standards and best practice

Abstract

Congenital heart disease (CHD) is the most common cause of major congenital anomalies affecting newborns. Prenatal detection of CHD has been improving continuously during the last two decades due to technical advances and thus optimized fetal cardiac imaging. Besides the in-utero diagnosis of CHD effective parental counseling is an integral part of any Fetal Cardiology Program. However, studies on the most effective techniques are scarce, as well as data on empirical assessment of counseling and its effectiveness. In this review article, we summarize current guidelines from different international associations and societies. We provide an updated literature overview evaluating current standards of counseling with regard to parental needs. This includes ethical aspects, counseling for univentricular disease and in-utero cardiac interventions. We discuss our method to assess counseling success for fetal heart defects by exploring different analytical dimensions that may be considered helpful in order to improve efficacy. Finally, we present a proposal of how to optimize a setting for counseling based on the current literature and our own data. In summary, parental counseling for fetal heart disease is complex and multidimensional. Significant expertise in fetal cardiology and physiology, potential progression of CHD, postnatal treatment strategies and knowledge of long-term sequelae is necessary. A structured approach, together with continuous improvement of communicative skills, may lead to more effective counseling for parents following a diagnosis of CHD in the fetus.

Keywords: Fetal cardiology; congenital heart disease (CHD); counseling; interdisciplinary approach.

Figure 1

Typical ultrasound finding in duodenal atresia (“double bubble”), with a dilated stomach and proximal duodenum. High association with trisomy 21.

Figure 2

Small omphalocele with mainly fetal bowel (1.8×2.3 cm²). In combination with CHD is a small omphalocele suspicious of trisomy 18. CHD, congenital heart disease.

Figure 3

Fetal echocardiogram (four-chamber view): Hypoplastic Left Heart Syndrome (HLHS); hypoplastic LV with signs of endocardial fibroelastosis (*, EFE). LV, left ventricle; RV, right ventricle.

Figure 4

Fetal echocardiogram (four-chamber view): critical aortic stenosis: dilated left ventricle (LV) with severe LV dysfunction. *, thickened and dysplastic aortic valve.

Figure 5

Fetal echocardiogram: pulmonary atresia with intact ventricular septum (PAIVS). (A) Four chamber view: right ventricle (RV) hypertrophied, poor systolic function; *, tricuspid regurgitation (TR); <, Coronary fistula. (B) Short-axis view (dual mode): *, thickened and dysplastic pulmonary valve, doming in systole without opening. Tricuspid valve (TV) with severe TR. Retrograde perfusion of the pulmonary trunk (PA) via the Ductus arteriosus (DA).

Figure 6

Fetal echocardiogram (four-chamber view): hypoplastic left heart syndrome (HLHS). Restrictive Foramen ovale (*, FO), and dilated pulmonary veins (>).

Figure 7

Model of assessing Counseling Success for fetal CHD. Overall counseling success may be assessed by five analytical dimensions: 1, “Transfer of Medical Knowledge”; 2, “Trust in Medical Staff”; 3, “Transparency Regarding the Treatment Process”; 4, “Coping Resources”; 5, “Perceived Situational Control”. Modifiers of counseling success in the dimensions and of overall counseling success are shown in the yellow circles and blue rectangles.

Figure 8

Muscular ventricular septal defect (*).

Figure 9

Ectopia cordis (arrows).

Figure 10

Echocardiograms (four-chamber view) of newborns (pre-procedural) diagnosed with fetal aortic stenosis displaying the spectrum of postnatal outcomes.