A large experience with fetal congenital heart disease allows the spectrum of disease to be described with accuracy and compared with that in infancy. Knowledge of the natural history of heart malformations when they present in the fetus allows accurate counseling to be offered to the parents. If the trend in parental decisions found in this series continues, a smaller number of infants and children with complex cardiac lesions will present in postnatal life.
A series of 467 cases of congenital heart disease detected in prenatal life were analyzed to identify the forms of cardiac malformation associated with karyotypic defects and to calculate the incidence of chromosomal abnormalities associated with such malformations. Of these, 77 were proved to have chromosomal anomalies although not all were karyotyped. The results were analyzed in two ways. First, the whole series of 77 cases was examined in order to describe the form of congenital heart disease found in association as, although many cases were forms of heart disease known to be associated with chromosomal defects, several were unexpected. In many cases which proved positive, there were other abnormal findings on ultrasound, further suggesting a high likelihood of a chromosomal defect. Some cardiac defects, however, such as atrial isomerism or transposition of the great arteries, were not associated with trisomies. The second part of the study examined in detail the records of 124 cases of congenital heart disease seen in 1989, as these were more completely documented than the previous cases. No chromosomal anomaly was therefore thought to be missed. Of this group, 20 (16%) proved positive. This is a higher rate than would be expected in an unselected population of live births. The difference between prenatal and postnatal life can be accounted for by the increased rate of spontaneous fetal loss in those with chromosomal defects. We conclude that, because of the high rate of chromosomal anomaly, all continuing pregnancies where congenital heart disease has been found in the fetus should be karyotyped unless specific types of heart defect which are rarely associated are confidently defined.
The outcome and associations of 35 consecutive cases of isolated pericardial effusion detected in the fetus are presented. In all cases included in the study, there was no evidence of a structural abnormality or a rhythm disturbance detectable antenatally. Karyotyping revealed that 26% of cases had trisomy 21 and 31% of the total had some form of chromosomal anomaly. Our study shows that the outlook for isolated pericardial effusion is good. However, there is a high incidence of associated karyotypic anomalies, in particular trisomy 21. Fetal karyotyping is therefore recommended in these cases.
In a 4-year period, 83 fetuses have been noted to have an abnormal fetal heart position within the thorax on fetal echocardiography. In 55 cases where the heart lay in the right chest, this was due to the presence of a left-sided diaphragmatic hernia; in one case, the heart was abnormally far into the left chest because of a left-sided diaphragmatic hernia. Of the remaining 27 cases, the heart lay in the right chest in 16 cases. In seven of those 16, there was a congenital heart malformation; in six, there were lung anomalies; a hiatus hernia was present in one; both congenital heart disease and lung abnormality were present in one and one fetus had isolated dextrocardia. In nine cases, the heart lay in the center of the chest and in three, the heart lay further to the left than normal. Congenital heart disease was found in nine of these 12. Chromosomal anomalies were found in four of the 27 cases with an abnormal heart position but an intact diaphragm. In summary, it is important to be familiar with the normal cardiac orientation within the thorax and to investigate abnormalities of position. A diaphragmatic hernia will be the most common underlying cause but, where the diaphragm is intact, other explanations must be sought in order to counsel correctly or plan appropriate perinatal management. Lung disorders, congenital heart disease and chromosomal anomalies will be the principal differential diagnoses.
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