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................................................................................................................................................................. Genetic counselling by an expert in the specific genetic disorder is highly recommended for patients and their family members in the situations below, and has the rationale of identifying at-risk asymptomatic or disease-free relatives and guiding clinical surveillance for disease onset.68–70 It is advocated in patients with known genetic disorders, especially if treatment options are available.68

Genetic counselling and parental testing may be useful: • In cases of known carrier status of hereditary pulmonary arterial hypertension (PAH) or pulmonary veno-occlusive disease71 • In cardiomyopathies and channelopathies (e.g. LQTS)72 • In congenital heart disease that is known to be associated with genetic abnormalities (e.g. conotruncal defects or bicuspid valve), when the patient has dysmorphic features, developmental delay/ mental retardation, or when other non-cardiac congenital abnormalities are present in syndromes such as in Marfan or other heritable thoracic aortic disease (HTAD), 22q11 deletion, Williams–Beuren, Alagille, Noonan, and Holt–Oram syndromes68 • In thoracic aortic pathology • When other family members are affected.

3.5.1 Pre-natal diagnosis Presently, options for pre-natal genetic testing are increasingly available for those patients with an identified genetic defect (either chromosomal defects such as insertions/deletions/translocations or single-gene defects). This includes (i) pre-gestational diagnosis or (ii) pre-natal diagnosis, chorionic villus sampling, or amniocentesis. Counselling should be provided by an experienced centre with an interdisciplinary expert team. An individualized approach to each family is required to ensure autonomous choice and informed consent regarding pre-natal diagnostic testing within the local ethical and legal framework.73

3.6 Foetal assessment

3.6.1 Screening for congenital heart disease Measurement of nuchal fold thickness around the 12th week of pregnancy to screen for chromosome abnormalities also screens for foetal congenital heart disease.74 For major congenital heart disease, a 12-week ultrasound has a sensitivity and specificity of 85 [95% confidence interval (CI) 78–90%] and 99% (95% CI 98–100%), respectively. The incidence of congenital heart disease with normal nuchal fold thickness is about 1/1000.75 The earlier diagnosis of a major malformation allows parents to consider all options, including termination of pregnancy.76 All women with congenital heart disease should be offered foetal echocardiography in the 19th–22nd weeks of pregnancy, with 45% of all congenital cardiac malformations identified.77,78 Foetal echocardiography should be performed by experienced specialists.79,80 When a foetal cardiac anomaly is suspected, it is mandatory to obtain the following:

• Full foetal echocardiography • Detailed scanning to identify associated anomalies (digits and bones) • Family history • Maternal medical history: medical disorders, viral illness, or teratogenic medication • Foetal karyotype (e.g. deletion in 22q11.2 with conotruncal anomalies) • Referral to a foetal medicine specialist, paediatric cardiologist, geneticist, and neonatologist • Delivery at an institution that can provide neonatal cardiac care.

3.6.2 Assessing foetal wellbeing In the context of foetal growth restriction, the aim is to determine the optimal time for delivery, balancing foetal and neonatal risks. The chance of disability-free survival increases by 2% per day between 24 and 28 weeks, and 1% per day thereafter until 32 weeks. Delivery should be determined by umbilical artery and ductus venosus blood flow patterns.81–83

3.7 Interventions in the mother during

pregnancy 3.7.1 Percutaneous therapy If an intervention is absolutely necessary, the best time is after the 4th month in the second trimester. By this time, organogenesis is complete, the foetal thyroid is still inactive, and the uterine volume is still small, so there is a greater distance between the foetus and the chest than in later months. ST-elevation MI (STEMI) management in pregnancy mainly relies on primary percutaneous coronary intervention (PCI). Thrombolysis may be a bailout, just as in non-pregnant patients, and recombinant tissue plasminogen activator does not cross the placenta but may induce bleeding complications (subplacental bleeding). Procedures should follow the ‘as low as reasonably achievable’ principle. Manoeuvres to minimize radiation are: (i) use echo guidance when possible; (ii) place the source as distant as possible from the patient and the receiver as close as possible to the patient; (ii) use only low-dose fluoroscopy; (iv) favour anteroposterior projections; (v) avoid direct radiation of the abdominal region; (vi) collimate as tightly as possible to the area of interest; (vii) minimize fluoroscopy time; and (viii) utilize an experienced cardiologist.84,85 Abdominal shielding lowers the radiation dose to the foetus to some degree; however, the presence of lead in the field of the primary beam may on the other hand increase scattered radiation. As the benefit of shielding is limited, it should not interfere with an optimal intervention. Monitoring and recording of radiation exposure facilitates the future assessment of possible effects on the foetus. Unfractionated heparin (UFH) has to be given at 40–70 U/kg i.v., targeting an activated clotting time of 250 s (200–300 s) or an activated partial thromboplastin time (aPTT) two times that which is normal.

3.7.2 Cardiac surgery with cardiopulmonary bypass Maternal mortality during cardiopulmonary bypass is now similar to that in non-pregnant women. However, foetal mortality remains high (20%).86 Cardiac surgery is recommended only when medical therapy or interventional procedures fail and the mother’s life is Downloaded from academic.oup.com/eurheartj/article/39/34/3165/5078465 by guest on 07 October 2026