Part of a multidisciplinary team

There are unique aspects of fetal heart disease and fetal circulation that are part of the foundation of knowledge of the fetal cardiologist. As a paediatric cardiologist, a fetal cardiologist also understands the perinatal and postnatal circulations. A fetal cardiologist should have advanced knowledge and be able to perform and evaluate a complete fetal echocardiogram. The fetal cardiologist is responsible for making the final diagnosis of the fetal cardiac problem and guides team decisions regarding pre-, peri-, and postnatal management of the baby. He/ she also provides counselling to the parents. The care of the mother and feto-placental environment problems should be discussed and managed together with an obstetrician or feto-maternal specialist. A fetal cardiologist is an integral part of a multidisciplinary team providing comprehensive care for both the mother and the baby. The composition of this team may vary between countries but, depending on the type of defect detected, will usually include several of the following: a fetal cardiologist, a fetal medicine specialist/perinatologist and/or obstetrician, a geneticist, a paediatric cardiac surgeon, a paediatric surgeon, a neonatologist, a paediatrician, a psychologist, a paediatric cardiac nurse specialist, a midwife, and a social worker.

Optimisation of perinatal care

A close cooperation between the obstetrician, feto-maternal specialist, and fetal cardiologist is crucial for optimal perinatal care. The obstetrician is responsible for the mother and the monitoring of the growth and wellbeing of the fetus. The obstetrician or feto-maternal specialist (or the person performing the fetal ultrasound depending on the local setup—such as radiologists, paediatricians, geneticists, or others) should distinguish between the normal and abnormal fetal heart, and depending on their experience may even determine a primary cardiac diagnosis. On suspicion of a fetal cardiac abnormality, the fetal cardiologist should be consulted. We recommend that even if the primary diagnosis is made by an experienced obstetrician or feto-maternal specialist, a referral should always be made to a fetal cardiologist for further assessment. The fetal cardiologist should be responsible for making a complete cardiac diagnosis and then providing appropriate information and counselling to the parents. ^{Reference Keelan, Moon Grady and Arya8,Reference Lee9,Reference Kovacevic, Elsässer and Fluhr10} In addition to providing a detailed description of the problem, the possible medical, interventional, and/or surgical management should be discussed, along with the early and late prognosis and outcomes. In cases where the diagnosis may not be clear or definite, the uncertainty and limitations should be explained in the counselling and further follow-up arranged. Important aspects of counselling are highlighted in Table 1. The potential for progression of the lesion as pregnancy advances should also be considered. Cardiac defects are evolving lesions, so the final diagnosis may not be fully established in the first trimester and can change with advancing gestation. If a cardiac diagnosis is made in the first trimester, one should acknowledge the limitations of scanning a very small heart and it is recommended that a confirmatory echocardiogram is performed by an experienced fetal cardiologist before a definitive decision is made regarding the final pregnancy course. ^{Reference Jicinska, Vlasin and Jicinsky11} Where there is a confirmed chromosomal abnormality associated with a suspected heart defect, it is recommended that a fetal cardiologist is consulted and is part of the counselling team assisting the parents in their decision regarding further management. In cases where the parents decide to interrupt the pregnancy, every effort should be made to confirm the diagnosis by the performance of a post-mortem examination by a specialised pathologist if possible.

Table 1. Conditions for and elements of prenatal counselling ^{Reference Moon-Grady, Donofrio and Gelehrter7,Reference Keelan, Moon Grady and Arya8,Reference Lee9}

CHD = congenital heart disease, CT = computerized tomography, ICU = intensive care unit, and MRI = magnetic resonance imaging.

The fetal cardiologist should be an integral part of the team making the preliminary management plan, including the delivery plan, ^{Reference Donofrio, Moon-Grady and Hornberger6} for fetuses with isolated cardiac defects, as well as those with additional extracardiac malformations and/or genetic disorders. In Table 2, the cardiac defects have been classified according to their severity and necessity for different perinatal strategies.

Table 2. Management of specific groups of fetal cardiac defects

It has been reported that delivery of babies with CHD before 39 weeks of gestation is not beneficial for further outcomes. ^{Reference Costello, Polito and Brown12} Therefore, early delivery should only be planned if there are clear indications, and a vaginal delivery is preferable wherever possible. Each case should be evaluated individually. Of importance is that peripheral flows in fetuses with CHD may differ from healthy fetuses ^{Reference Mebius, Clur and Vink13} and these differences should be considered while interpreting flow patterns and making decisions regarding the delivery of a baby. Fetuses with critical cardiac defects and those with multiorgan malformations should be delivered at or near specialised centres wherever possible.

General

1. 1. Aims of the service

   • To make an accurate diagnosis of fetal cardiac abnormalities. This includes the diagnosis of structural defects, functional problems, and rhythm disturbances.

   • To initiate prenatal treatment when appropriate.

   • To arrange further assessment of the baby by a feto-maternal specialist to exclude extracardiac abnormalities where appropriate.

   • To provide appropriate counselling and support for parents and families following prenatal diagnosis. This includes providing detailed up to date information about the heart problem, the treatment options before and after birth, and the expected outcomes.

   • To communicate results to the referring obstetrician or general practitioner. To plan the further management in collaboration with the obstetrician, and all personnel likely to be involved in the perinatal management after counselling the parents regarding the possible options. This may include continuation of the pregnancy or not, depending on the parental wishes and regulations of the country within which they live. To maintain a database to enable regular audits of activity, quality control, and monitoring of outcomes.

2. 2. Place

   • The fetal cardiac unit can be located as an outpatient clinic within or outside the hospital. Close links to the obstetric, genetics, neonatal, paediatric cardiology, and paediatric cardiothoracic surgery departments are necessary. How this type of cooperation is achieved may vary both within countries and between countries.

   • Ideally, a minimum of 250–500 fetal heart scans should be performed, and at least 50 fetal cardiac abnormalities should be seen yearly in such a centre.

3. 3. Staff

   • A fetal cardiology consultant should be the head of the unit.

   • Experienced fetal echocardiography specialists are required to perform the fetal echocardiographic examinations and check screening scans as necessary. Depending on the country, these individuals can be specialised sonographers, radiologists, paediatric cardiologists, obstetricians or feto-maternal specialists, specialist midwives, or specialist clinical nurse practitioners, all of whom should have been trained in scanning the fetal heart.

   • Regular interdisciplinary meetings should occur to discuss the prenatally diagnosed cases and their management. Involvement of other specialties include the obstetric team and fetal medicine specialists, midwives, geneticists, neonatologists, and psychologists or equivalent.

4. 4. Equipment

   • Premium ultrasound machines with high-quality 2D imaging and functions such as M-Mode, colour Doppler, pulsed Doppler, and continuous wave Doppler, as well as appropriate transducers are required.

   • The ultrasound machine should have obstetric and cardiac calculation packages.

     In tertiary centres, it may be of benefit to perform advanced techniques for fetal cardiac imaging, such as 3/4D imaging as spatio-temporal image correlation or real-time 4D echocardiography, as well as power Doppler and tissue Doppler.

5. 5. Database

   • All studies should be recorded and stored, preferably in DICOM format or as advised for compatibility with the local IT system.

   • A database should be available for the recording of patient and pregnancy data. The reason for referral for fetal echocardiography, family history, maternal health, drugs taken during pregnancy, results of first-trimester screening if available, and any other relevant history should be recorded. A detailed description of the study including the final diagnosis and recommendation for further management should be available. It is recommended to use the International Paediatric and Congenital Cardiac Code in conjunction with the International Society for Nomenclature of Paediatric and Congenital Heart Disease ¹⁴ for the cardiac diagnosis.

   • The legal requirements may differ per country, but patient privacy should be always protected.

6. 6. Reports

   • A written report should be provided after each examination and the patient should have access to a copy.

   • The report should include the diagnosis and recommendations for the further management pre-, peri-, and postnatally. The final conclusions and recommendations should be written as the commentary in the report or in a separate consultant letter, depending on the regional organisation of the medical care.

7. 7. Follow-up

   • Follow-up after live birth, stillbirth, intrauterine death, and termination of pregnancy should be sought, and where available, the data entered into the database.

Prenatal cardiology training for the aspirant Association of European Paediatric Cardiology paediatric cardiologist

The paediatric cardiologist does not have to perform a fetal echocardiogram but should be able to interpret fetal cardiac examinations performed by a sonographer/other person and their reports, be able to detect warning signs, discuss possible treatment options, and know what care the baby will require after birth. ^{Reference Heying, Albert and Voges5}

The following educational activities are recommended:

• Fetal cardiology course—a national or an Association of European Paediatric Cardiology internationally approved course.

• 1–2 weeks training in a referral centre for fetal cardiology (this can be divided into days, with a total of 10 days).

Theoretical knowledge required

1. 1. Knowledge of screening:

• The trainee must know the indications for referral for fetal echocardiography. This includes the high-risk groups ^{Reference Donofrio, Moon-Grady and Hornberger6} but as most babies with CHD are born to mothers with no recognisable risk factors, knowledge of screening in the low-risk population is essential. This typically occurs during the obstetric anomaly scan around 18–22 gestational weeks.

• The trainee should have a clear knowledge of the different cardiac views used for screening as well as their benefits and pitfalls. These views are the abdominal situs view, the four-chamber view, the left ventricular outflow tract view, the right ventricular outflow tract view, and the three-vessel and trachea view (Table 3, Fig. 1).

• The trainee should be familiar with first-trimester screening markers for CHD, such as an increased nuchal translucency, abnormal venous duct flow, and tricuspid regurgitation, and know what action to take when the screening is abnormal. ^{Reference Nicolaides, Heath and Cicero15}

• Additionally, in some countries, cardiac screening is now occurring during a 12–14 week anomaly scan, and the trainee should have an understanding of the potential and limitations of the early scan.

Figure 1. wFetal cardiac screening views. 1: abdominal situs view. DAo = descending aorta, HV = hepatic vein, IVC = inferior caval vein, S = stomach. 2: four chamber view. LA = left atrium, LV = left ventricle, RA = right atrium, RV = right ventricle. 3: left ventricular outflow tract view. 4: right ventricular outflow tract view. Ao = aorta, MPA = main pulmonary artery, SVC = superior caval vein. 5: three vessel view. AD = arterial duct, T = trachea. 6: three vessel and trachea view. Ant = anterior, L = left, post = posterior, R = right.

Table 3. What a fetal heart evaluation should include—screening and advanced fetal echocardiography

1. 2. Embryology of the cardiovascular system.

2. 3. Physiology of the fetal cardiovascular system in various periods of pregnancy: ^{Reference Dangel16}

   • Fetal circulation: importance of the essential shunts; the oval foramen, venous duct, and the arterial duct.

   • Fetal physiology, pathophysiology, and cardiac function and how this differs from the postnatal physiology. Knowledge of cardiovascular problems that can deteriorate during pregnancy and why (examples can be seen in sections 2 and 8 of Table 2). Understanding which heart defects will be dependent on one or more of the prenatal essential shunts postnatally and the postnatal management they require.

   • Transitional circulation in healthy cases and those with cardiovascular problems.

   • Conditions causing a high cardiac output (see Tables 2 and 4 for some examples).

3. 4. Segmental analysis of CHD.

4. 5. Genetic problems:

   • Knowledge of the associations between specific CHD and genetic problems.

   • Knowledge of the currently available genetic tests, their indications, and their interpretation in cooperation with geneticists.

5. 6. Prenatal evolution of CHD. This is of particular importance in the current era of increasing early fetal echocardiography.

6. 7. Indications for prenatal cardiac interventions.

7. 8. Fetal arrhythmia:

   • The patient with fetal arrhythmia should be referred to a fetal cardiologist for further diagnosis and management.

   • Knowledge of the normal fetal heart rate in different periods of pregnancy. ^{Reference Mitchell, Cuneo, Etheridge, Horigome, Weng and Benson17}

   • Ability to recognise a fetal tachycardia ^{Reference O’Leary, Alexander and Bezzerides18} and abnormal heart rhythms in the fetus (recognition of abnormal M-mode and Doppler recordings).

   • Knowledge of the differentiation and significance of atrial and ventricular ectopy.

   • Ability to recognise fetal bradycardia ^{Reference Cuneo and Strasburger19} and the risk of long QT syndrome. ^{Reference Cuneo, Strasburger and Wakai20,Reference Clur, Vink and Etheridge21}

   • Ability to recognise congenital heart block.

   • How to organise care of pregnant women with positive SS-A and SS-B antibodies. ^{Reference Mawad, Hornberger and Cuneo22}

   • How to treat a fetus with an arrhythmia and avoid premature delivery if possible.

8. 9. Fetal cardiac failure and cardiomyopathies:

   • Understanding of scores for the assessment of fetal heart failure (for example, the Cardiovascular Profile Score). ^{Reference Huhta23}

   • The differences between prenatal and postnatal causes of cardiac failure and treatment options.

9. 10. Functional changes in the fetal cardiovascular system:

   • Tricuspid regurgitation.

   • Disproportion between right and left side of the heart.

   • Regurgitation of the other cardiac valves (mitral, aortic, and pulmonary).

   • Prenatal closure/restriction of the arterial duct and/or oval foramen:

     - Aetiology

     - Consequences for the neonatal condition

     - Perinatal management/treatment options.

10. 11. Communication skills

    • For good continuation of care postnatally, an awareness of prenatal counselling and documentation there of is necessary. ^{Reference Moon-Grady, Donofrio and Gelehrter7}

Table 4. Obstetric problems, extracardiac malformations and pharmacotherapy affecting the fetal cardiovascular system

Advanced training programme to become an Association of European Paediatric Cardiology consultant in fetal cardiology

In addition to the basic knowledge of fetal cardiology listed above, a consultant in fetal cardiology should have knowledge of performing a basic general fetal ultrasound examination and must be able to perform a complete detailed fetal echocardiogram. (Table 3, Figure 2).

Figure 2. Advanced cardiac views. A1: biventricular view. LV = left ventricle, RV = right ventricle, A2: short axis view. AD = arterial duct, ao = aorta, LA = left atrium, RA = right atrium, B3: bicaval view. DAo-descending aorta, DV = venous duct, IVC = inferior caval vein, SVC = superior caval vein. B4: sagittal aortic arch view. Ao = aorta, MPA = main pulmonary artery, SVC = superior caval vein. B5: sagittal arterial duct view. Ant = anterior, L = left, post = posterior, R = right.