Diane C. Crawford

Prenatal screening for congenital heart disease

Routine ultrasound examination of the fetus is already established in most obstetric units in Britain. A simple method was devised to evaluate one section of the fetal heart systematically. Examination of this section, the four chamber view, may readily be incorporated into routine obstetric screening. Severe cardiac abnormalities detectable in this view occur in two per 1000 pregnancies. For six years the department of paediatric cardiology at Guys Hospital, London, served as a referral centre for fetal echocardiography. As teaching became more widespread an increasing proportion of cases of cardiac anomaly were referred because the obstetrician suspected abnormality on examination of the four chamber view. Currently 80% of detected abnormalities are referred for this reason. Further extension and organisation of teaching might result in most severe cardiac malformations being detected in early prenatal life.

Doppler echocardiographic evaluation of the normal human fetal heart.

Pulsed wave Doppler estimates of blood flow velocity were made across the mitral, tricuspid, aortic, and pulmonary valves in a series of 120 normal fetuses (gestational age 16-36 weeks). In 36 of these the data were obtained in all four sites. The maximum and mean velocities were calculated for each valve and these values were plotted against gestational age. There was little change in these values throughout pregnancy. The orifice dimensions of the valves were measured by cross sectional echocardiography. At all ages the tricuspid orifice was larger than the mitral and the pulmonary orifice was larger than the aortic. The blood flow values for each valve were derived from the product of the mean velocity and the valve orifice dimensions. The output of the right ventricle was usually, but not always, greater than that of the left ventricle. Combined ventricular output increased from approximately 50 ml/min at 18 weeks to 1200 ml/min at term. Despite limitations in the accuracy of the technique these results form a useful basis for the analysis of blood flow in the normal fetus and for the interpretation of abnormal Doppler findings in prenatal life.

Familial recurrence of congenital heart disease in a prospective series of mothers referred for fetal echocardiography

Fetal echocardiography can ascertain, at an early stage in pregnancy, recurrences of congenital heart disease (CHD) in mothers with a family history of CHD. In 1,021 mothers referred for this reason, 20 recurrences were found; 17 occurred when there had been 1 previously affected child, and 3 when there had been 2 previously affected children. No recurrences were found in the 41 cases in which a parent had CHD. The overall recurrence rate was 1 in 52 with a previously affected child and 1 in 10 with 2 previously affected children. However, certain forms of CHD recurred much more frequently than others. Aortic valve atresia was associated with a recurrence rate of 1 in 28, coarctation of the aorta at a rate of 1 in 15, complex CHD at a rate of 1 in 11 and truncus arteriosus at 1 in 13. These findings are inconsistent with previous family studies; this may be due to more complete ascertainment, particularly of major lesions, possibly overlooked by postnatal family studies because of fetal loss. Alternatively, the availability of prenatal diagnosis may be producing an increase in family size after major CHD. The results support current doubts on the polygenic theory of inheritance for all forms of CHD.

Fetal diaphragmatic hernia: the value of fetal echocardiography in the prediction of postnatal outcome.

Summary. Nineteen pregnancies complicated by fetal congenital diaphragmatic hernia (CDH) referred for fetal echocardiography have been reviewed. Congenital heart disease was diagnosed prenatally in three fetuses; in one of these the pregnancy was terminated, the two other infants died in the neonatal period. The presence of the fetal stomach within the thorax or a hernia/heart area ratio greater than 1·7 was associated with a large diaphragmatic defect. Polyhydramnios was not associated with a poor postnatal outcome. Evidence of cardiac ventricular disproportion before 24 weeks gestation in isolated CDH was associated with 100% mortality. Development of ventricular disproportion during the third trimester was associated with a survival rate of 75%. In three fetuses, all of whom survived, no ventricular disproportion was detected during the third trimester examination.

Prenatal detection of congenital heart disease: Factors affecting obstetric management and survival

Our recent experience in the diagnosis and management of fetal congenital heart disease is presented. During an 18-month period from January 1985 to June 1986, 1757 fetal echocardiograms were performed on a total of 989 antenatal patients. Cardiac anomalies were accurately predicted in 74 cases, 34 of which were associated with extracardiac or chromosomal anomalies. Twenty-three pregnancies were electively terminated. Currently the survival rate for ongoing pregnancies is 17%. A false negative diagnosis was made in 16 cases, the majority involving minor anomalies with a good prognosis and a survival rate of 81%. Prenatal detection of congenital heart disease places the fetus at high risk for chromosomal and extracardiac anomalies. Congenital heart disease detectable during pregnancy is usually severe and associated with a poor long-term prognosis. Termination of the pregnancy may be a reasonable option if a severe anomaly is detected early in pregnancy.

The accuracy of fetal echocardiography in the diagnosis of congenital heart disease

The accuracy of the echocardiographic diagnosis of fetal heart disease in an experienced centre was evaluated by analysing the results achieved during 1987 at the Perinatal Cardiology Unit, Guys Hospital. In this one year, 978 high-risk patients were referred for fetal echocardiography. Of these, 74 cases were found to have cardiac malformation, 69 of which were predicted from the prenatal study. Of the 69, the autopsy specimen was available for correlative purposes in 41 cases. A postnatal echocardiogram was performed by us in a further 15 cases. The result of autopsy or of a postnatal echocardiogram was obtained from another hospital in 7 cases. Postmortem was refused in 5 cases, while one further case remains alive but has not had a postnatal echocardiogram. Close correlation was achieved between the predicted echocardiographic diagnosis and the anatomical results. Some minor errors in the complete interpretation of a defect were found, particularly in those fetuses in whom image quality was poor, due to early (less than 20 weeks) or late (greater than 34 weeks) gestation or to maternal obesity. Difficulty in echocardiographic interpretation was also experienced in unusual defects. There was one false positive prediction of coarctation of the aorta. One major (total anomalous pulmonary venous drainage) and 5 minor abnormalities (two atrial and three ventricular septal defects) detected after birth were overlooked on the fetal study. Although the echocardiogram in prenatal life is not as accurate as it can be postnatally, with suitable experience a high degree of precision can now be achieved.

Pulmonary atresia in prenatal life

Seven cases of pulmonary atresia with intact ventricular septum were detected in prenatal life. In two of these cases, there was a small hypertrophied right ventricle of the type commonly seen postnatally. In the remaining five cases, the right atrium and right ventricle were grossly dilated to a degree that caused lung compression. The resulting impairment of lung development appeared to be an important factor contributing to death in all five cases. Decompression of the right ventricle by intrauterine surgery to allow normal lung development in the last weeks of pregnancy may be the only way of changing this outcome.

Structural cardiac abnormalities in the fetus: reliability of prenatal diagnosis and outcome

Summary. The outcomes of 129 pregnancies in which the fetus was found to have a structural cardiac abnormality are reviewed. Over a 30 month period from January 1985 to June 1987, 1924 patients were referred to the British Heart Foundation Research Centre for Perinatal Cardiology at Guys Hospital for fetal cardiac seanning. A total of 129 structural cardiac abnormalities was diagnosed; 53% of these patients were referred because of an abnormal ‘four‐chamber view’ on ultrasound at the referring hospital; 47 of the pregnancies (69% of the 68 patients referred before 28 weeks) were terminated, and in the remaining 82 pregnancies outcome was poor with only 20 infants (16%) surviving longer than 11 months. The prenatal diagnosis was fully or partly correct in 96% of the 111 cases where it was possible to verify the diagnosis by post‐mortem or postnatal diagnosis. In the 82 pregnancies not terminated, 13 of the 22 cases given a moderate or good prognosis survived more than 11 months (59% survival), but only seven of the 60 (12% survival) given a fatal, poor or uncertain prognosis. The benefits of a multidisciplinary approach are discussed.

Atrioventricular septal defect in prenatal life.

In a series of more than 3500 pregnancies referred for fetal echocardiography, 29 cases of atrioventricular septal defect were detected in the fetus. There was a chromosomal anomaly in 14 of these cases, left atrial isomerism in 12, and right atrial isomerism in two. Complete heart block was found in 11 of the cases with left atrial isomerism. Many associated cardiac abnormalities were found, particularly in the fetuses with atrial isomerism; the most common were double outlet right ventricle or aortic arch anomalies. The prognosis was poor in all patients with atrioventricular septal defect detected prenatally. Fifteen pregnancies went to term but there are only four survivors. Two of those have trisomy 21, a further patient has inoperable defects, and only one remains well and is awaiting corrective surgery for a partial atrioventricular septal defect.

Aetiology of non‐immune hydrops: the value of echocardiography

Summary. Forty‐eight pregnancies, five of them multiple, were referred for fetal cardiac assessment following the detection of non‐immune hydrops fetalis; there were 52 hydropic fetuses in total. A cardiovascular aetiology was found in 21 of these 52 (40%); structural heart disease was present in 13, tachyarrhythmia in the remaining eight. The accurate delineation of these causes was possible using fetal echo‐cardiography, and enabled rational management to be instituted. This included termination of pregnancy, pharmacological control of arrhythmias and appropriate timing of delivery.