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Changing impact of fetal diagnosis of congenital heart disease

Cardiac abnormalities are an important cause of death in infancy and childhood. In a significant number of cases the cardiac lesion is not recognised during life.1 Detailed descriptions of the cross sectional appearance of the normal human fetal heart have been published by several authors in 1980.2-4 The heart can now be studied in the early mid-trimester fetus between 14–18 weeks of gestation and most major malformations of the heart can be diagnosed during fetal life.5 It is still the severe end of the spectrum of congenital heart disease that is detected prenatally,6-8 so the outlook for many cases remains poor and parents often have the option to interrupt the pregnancy following prenatal diagnosis. Concern has been voiced about the effects that prenatal diagnosis will have on paediatric cardiology services. The impact of fetal cardiology is clearly an issue that needs to be addressed.

Not all forms of fetal cardiac malformations can be detected. It is particularly important that the parents of the baby being scanned understand this and are made aware of the limitations of the procedure. The main cardiac lesions that can be detected during fetal life are outlined in table 1. The lesions are divided into those that would usually be associated with an abnormal four chamber view of the fetal heart and those associated with a normal four chamber view but which have abnormalities of the great arteries. The abnormalities associated with an abnormal four chamber view are potentially detectable by four chamber view screening during routine obstetric ultrasound examination, and extension of this type of screening will lead to a significantly increased number of babies with major cardiac defects being diagnosed prenatally.

View this table:

Table 1 
Lesions associated with four chamber view



Table 2 lists the lesions that cannot be detected in fetal life. …