Lindsey D. Allan

Counselling the parents following a diagnosis of fetal congenital heart disease (CHD) is as important a task for the fetal cardiologist, as the skill involved in achieving an accurate diagnosis. The counsellor will base prognosis not only on the diagnosis itself but also on the security of diagnosis, the stage in gestation and potential for change, the association with extracardiac malformations and the known results of treatment. Depending on the gestational age and legal situation the counsellor is operating in, termination of pregnancy may be one of the options to consider and one that should always be raised in discussion. Thus, the parents may be in the position of making a crucial decision concerning the management of the pregnancy on the basis of the information received, so it is vital that the counsellor is truly able to communicate with them, whatever be their level of understanding. Copyright © 2004 John Wiley & Sons, Ltd.

Objective: To analyse patient data to elucidate the apparent association between an abnormal karyotype and tricuspid regurgitation found during fetal echocardiography at early gestations. Setting: Tertiary referral centre for fetal medicine and cardiology. Methods: Fetuses between 11 and 14 weeks’ gestation were selected for detailed echocardiography. Referral reasons were increased nuchal translucency, a suspected cardiac or extracardiac malformation, and a family history of cardiac malformation. Intervention: The fetus was imaged transabdominally. The four chamber view, outflow tracts, arterial duct, and aortic arch were assessed on cross sectional imaging and colour flow mapping. Pulsed Doppler of the atrioventricular valves was recorded if possible. Subsequently, the fetal karyotype was ascertained by chorionic villous sampling. Results: Pulsed Doppler recording of the tricuspid valve was obtained for 262 fetuses. Tricuspid regurgitation was present in 70 (27%) of these, of whom 58 (83%) proved to have karyotype anomalies. In contrast, 68 (35%) of those without tricuspid regurgitation were found to have karyotype anomalies (95% confidence interval 36% to 59%, p < 0.001). Structural heart defects were detected in 34 of the 58 (59%) with tricuspid regurgitation and in 22 (32%) of those without. The chromosome defect most frequently found to be associated with tricuspid regurgitation was trisomy 21, but all types of karyotypic anomalies were seen in association. Conclusion: A careful search for tricuspid regurgitation is an important aspect of the evaluation of the early fetus, as this is frequently a marker for chromosomal defects even in the absence of structural heart disease.

Objective: To compare the incidence and type of heart disease found in association with 45X karyotype in fetal life with postnatal life and to examine the outcome after fetal diagnosis.Methods: Fifty‐three fetuses with a 45X karyotype were examined echocardiographically over a 4‐year period between 1999 and 2002. Of these, 47 were referred because of increased nuchal translucency (NT).Results: A cardiac abnormality was detected in 33/53 (62.2%) fetuses. The most common diagnosis was coarctation of the aorta in 24/53 (45.3%) fetuses, followed by the hypoplastic left heart syndrome (HLHS) in 7/53 (13.2%) fetuses. The mean NT was significantly higher in fetuses with a heart defect than in those with normal echocardiography. Termination of pregnancy was carried out in 45/53 (84.9%) fetuses and intrauterine death occurred in six cases. Two of four fetuses with a mosaic karyotype are currently alive.Conclusion: Turner's syndrome is associated with a higher incidence of heart defects detected prenatally when compared to postnatal reports. The commonest associated heart defects detected prenatally are HLHS and coarctation of the aorta, in contrast to postnatal life where a bicuspid aortic valve is the most common diagnosis. The typical intrauterine presentation of Turner's syndrome with a markedly increased NT or with hydrops and with a typical 45X karyotype has an extremely poor prognosis for intrauterine survival. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

To consider the ideal gestational age for cardiac evaluation during pregnancy. Screening the heart during routine obstetric ultrasound has become well established and is increasingly successful in the initial detection of major congenital heart disease. When the option of termination of pregnancy is available, the earlier the diagnosis of any major fetal malformation is made, the better for the patient. An important group who have recently been found to be at increased risk of fetal heart malformation are those with increased nuchal translucency measurements, who are identified between 11 and 14 weeks. Thus, screening for fetal anomalies is being attempted much earlier in pregnancy, aided by advances in technology. However, some forms of cardiac malformations do not become evident until the third trimester of pregnancy; as a result, some of the late-developing lesions may go undetected during very early evaluation. The ideal timing for screening is a compromise between obtaining adequate images for diagnosis in the majority of routine patients, scanning sufficiently late not to miss late-developing lesions and yet offering diagnosis as early as possible for parents to consider their options, if there are any applicable to their particular diagnosis. For low-risk patients, the best compromise appears to be at around 20 weeks of gestation. For patients at increased risk of congenital heart disease, such as those found to have substantially increased nuchal translucency or those with a family history of the disease, an initial scan to exclude major malformations should be performed by the fetal cardiology expert at 12-14 weeks, with follow-up at around 20 weeks to exclude more minor defects and those lesions which may become evident later.

A restrictive atrial septal defect is a risk factor for mortality in some forms of left heart disease, and can be predicted from the patterns of flow in the pulmonary veins in fetal life. Our objective was to document the patterns of pulmonary venous flow of blood in different forms of left heart disease in the fetus. The pulmonary venous flow profile was documented in 61 cases. The systolic, diastolic, and reverse waves were measured and compared to normal. Profiles of venous flow suggestive of restriction at the atrial septum were found in 32 of 61 cases using the ratio of systolic to diastolic waves, and 26 cases using the height of the reverse wave.A restrictive atrial septal defect was found most commonly in fetuses with critical aortic stenosis or the hypoplastic left heart syndrome, and was less frequently seen in the setting of mitral atresia or coarctation. In order to plan appropriate postnatal management, examination of the profiles of pulmonary venous flow is an essential part of the evaluation of any form of left heart disease detected in the fetus.

BACKGROUND Infants with isolated totally anomalous pulmonary venous return often present severely decompensated, such that they are at high risk for surgical repair. On the other hand, if surgical repair can be safely accomplished, the outlook is usually good. Thus prenatal diagnosis would be expected to improve the prognosis for the affected child. OBJECTIVE To describe the features of isolated totally anomalous pulmonary venous drainage in the fetus. DESIGN Four fetuses with isolated totally anomalous pulmonary venous connection were identified and the echocardiographic images reviewed. Measurements of the atrial and ventricular chambers and both great arteries were made and compared with normal values. SETTING Referral centre for fetal echocardiography. RESULTS There were two cases of drainage to the coronary sinus, one to the right superior vena cava, and one to the inferior vena cava. Right heart dilatation relative to left heart structures was a feature of two cases early on, and became evident in some ratios late in pregnancy in the remaining two. CONCLUSIONS Ventricular and great arterial disproportion in the fetus can indicate a diagnosis of totally anomalous pulmonary venous connection above the diaphragm. However, in the presence of an atrial septal defect or with infradiaphragmatic drainage, right heart dilatation may not occur until late in pregnancy. The diagnosis of totally anomalous pulmonary venous drainage in fetal life can only be reliably excluded by direct examination of pulmonary venous blood flow entering the left atrium on colour or pulsed flow mapping.