08:40 〜 10:10
[I-S06-04] Pitfalls in prenatal diagnosis
Diagnosis of congenital heart disease (CHD) before birth has become well established practice. Experienced centres report a high degree of diagnostic accuracy even in early gestation. BUT is it always so easy and where are the pitfalls?
Difficulties in diagnosis and counselling may arise due to a variety of reasons which include; early diagnosis, poor images, the type of diagnosis, differentiating between diagnosis, unusual or rare diagnosis, the possibility of progression and whether we can predict a biventricular repair or not.
In some cases it is difficult to be certain whether there is a definite problem or not, for example in cases of suspected coarctation of the aorta. Differentiating between certain diagnoses can be difficult particularly in early gestation, for example in cases of pulmonary atresia and common arterial trunk. It may also be difficult in some cases to get all the required information, for example trying to establish the source of pulmonary blood supply in all cases of pulmonary atresia with ventricular septal defect. Some diagnoses are difficult to make prenatally and are often missed, for example total anomalous pulmonary venous drainage.
Predicting outcome particularly in cases where the heart lesion has the potential to progress also poses a challenge. This could be, for example, in cases of obstructive heart lesion and also in cases of cardiomyopathy associated with abnormal heart function. Predicting whether early intervention after birth will be required is another challenging area for example in cases of transposition of the great vessels.
Thus, whilst most forms of congenital heart disease can be diagnosed before birth with a high degree of diagnostic accuracy, there remain many challenging areas and pitfalls in prenatal diagnosis
Difficulties in diagnosis and counselling may arise due to a variety of reasons which include; early diagnosis, poor images, the type of diagnosis, differentiating between diagnosis, unusual or rare diagnosis, the possibility of progression and whether we can predict a biventricular repair or not.
In some cases it is difficult to be certain whether there is a definite problem or not, for example in cases of suspected coarctation of the aorta. Differentiating between certain diagnoses can be difficult particularly in early gestation, for example in cases of pulmonary atresia and common arterial trunk. It may also be difficult in some cases to get all the required information, for example trying to establish the source of pulmonary blood supply in all cases of pulmonary atresia with ventricular septal defect. Some diagnoses are difficult to make prenatally and are often missed, for example total anomalous pulmonary venous drainage.
Predicting outcome particularly in cases where the heart lesion has the potential to progress also poses a challenge. This could be, for example, in cases of obstructive heart lesion and also in cases of cardiomyopathy associated with abnormal heart function. Predicting whether early intervention after birth will be required is another challenging area for example in cases of transposition of the great vessels.
Thus, whilst most forms of congenital heart disease can be diagnosed before birth with a high degree of diagnostic accuracy, there remain many challenging areas and pitfalls in prenatal diagnosis