Chromosomal Anomalies Influence Parental Treatment Decisions in Relation to Prenatally Diagnosed Congenital Heart Disease

Abstract

This study aimed to identify the variables that influence parental treatment decisions after a prenatal diagnosis of congenital heart disease (CHD). The authors reviewed all cases of prenatally diagnosed structural CHD from August 1998 to December 2006 at their center. The following variables were studied as potential predictors of parental intent to treat: maternal age, race, insurance status, obstetric history, fetal gender, univentricular versus biventricular cardiac physiology, and fetal chromosomal abnormality. Uni- and multivariable logistic regression analyses were performed. In the review, 252 consecutive cases of prenatally diagnosed CHD were identified. Of these, 204 women pursued full medical treatment, whereas 25 women sought termination of pregnancy or comfort care. Parental intent to treat was unknown for 23 cases. Multivariable logistic regression analysis identified fetal chromosomal abnormality as the only variable that influenced parental intent to treat (odds ratio [OR], 14.33; 95% confidence interval [CI], 3.28–62.66; p = 0.0006). An associated chromosomal abnormality rather than the severity of the heart defect influences the decision to choose termination of pregnancy or comfort care for a fetus with prenatally diagnosed CHD. Women were 14 times more likely to terminate a pregnancy or seek comfort care for a fetus with CHD if a chromosomal abnormality was present.

Associated genetic syndromes and extracardiac malformations strongly influence outcomes of fetuses with congenital heart diseases

“…We also showed that these associations were independent of the severity of the CHD, represented by defects unsuitable for biventricular repair. Our results were consistent with those of previous studies [15,17,19,20]. Russo et al showed that termination of pregnancy was [19].…”

“…Several other pregnancy variables are known to influence the decision to terminate pregnancy, such as maternal age, gravida, parity, gestational age at time of diagnosis, religion and socioeconomic status [16,17,21]. Furthermore, survival rate can be influenced by many other factors [22][23][24], such as term of birth or birth weight.…”

“…In the majority of studies, CHDs associated with extracardiac anomalies have worse outcomes [10][11][12][13][14][15]. However, relatively few studies have evaluated the overall effect of known genetic syndromes and major ECMs on pregnancy outcome and mortality in fetal CHD [16,17].…”

Diagnosis and Treatment of Fetal Cardiac Disease

“…Timely identification of genetic/ chromosomal abnormalities may strongly influence decisions concerning termination of pregnancy. 411 Amniocentesis and additional imaging (eg, high-level obstetric ultrasound, fetal MRI) can contribute to a more complete characterization of the fetus and may be offered to the family. Such testing may aid in making decisions about the continuation of the pregnancy or in planning for specific needs at birth for care beyond the heart.…”

Fetal Heart Disease: Severity, Associated Anomalies and Parental Decision

“…The parental decision following the diagnosis varies between countries and even between different medical centers in the same country [10,13,14,15]. Factors that can influence this decision of continuing or terminating a pregnancy include the specific cardiac and extracardiac anomaly and its prognosis [7,16,17,18,19].…”