Fetal Screening Programmes

Details

Title

Fetal Screening Programmes

Type

Stage Two

Module code

HPS142

Requirement

Optional

Module objective

Congenital heart disease is the most common congenital anomaly found in the human, occurring in 2% of live- born children and a higher percentage of unborn fetuses. By the end of this module the Clinical Scientist in HSST will be able to analyse, synthesise, critically evaluate and apply knowledge of fetal anomaly screening programmes, including: (i) the underpinning evidence base; (ii) the purpose of the screening programmes; (iii) the importance of screening programmes for cardiac diagnosis; (iv) cross-programme generic screening issues such as information giving and facilitating choice; and (v) national and international fetal screening programmes. The Clinical Scientist in HSST will be expected to apply their knowledge in their scientific and clinical practice while consistently demonstrating the attitudes and behaviours necessary for the role of a Consultant Clinical Scientist within a patient-focused service.

Knowledge and understanding

By the end of this module the Clinical Scientist in HSST will critically analyse, synthesise, evaluate and apply their expert knowledge of fetal screening programmes, including:

Evidence base for prenatal detection of CHD:

• the impact of CHD as a major cause of morbidity and premature death;
• the impact of fetal echocardiography on the outcome of some cardiac lesions but not others;
• the incidence of different lesions during fetal life and among live-born children;
• factors influencing the estimation of the true incidence of CHD, e.g. termination of pregnancy and silent lesions that close spontaneously in childhood (e.g. tiny muscular VSDs);
• the timing of fetal echocardiography, including early (12–14 weeks) and mid- trimester;
• cardiac lesions where prenatal diagnosis has been shown to offer a survival advantage;
• which cardiac lesions are particularly difficult to diagnose with certainty during fetal life;
• the affect of advances in medicine and science on improving CHD patient survival and the impact on future incidence.

Genetics and genomics:

• the importance of precisely orchestrated spatial and temporal gene expression in cardiovascular development;
• the difference between chromosomal defects, such as aneuploidy and monosomy;
• genetic abnormalities that involve excesses or deficiencies in multiple genes, or single gene defects that currently account for 3% of CHD;
• the particular genetic association of particular forms of CHD;
• how fetal diagnosis may improve the physiological state after birth and surgical outcome if appropriate planning has been made for selected lesions;
• the role of appropriate counselling well before birth, which can allay parental fears, improve psychological state and augment coping abilities following fetal diagnosis.

Fetal screening programmes:

• epidemiology of CHD;
• the rationale and organisation of screening programmes for CHD;
• national and international screening programmes, including the UK Fetal Anomaly Screening Programme (FASP);
• antenatal and newborn screening pathways for Down syndrome, sickle cell and thalassaemia, and infectious diseases in pregnancy;
• clinical examination of newborn babies and infants;
• routine investigations, including newborn blood spot; newborn hearing and pulse oximetry screening;international perspective on fetal anomaly screening and differences between UK policy and other countries.
• the purpose of antenatal and newborn screening programmes:
  • the principles of screening
  • differentiation between screening and diagnosis
  • the importance of early access to midwifery care
  • the recommended optimal timing of antenatal and newborn screening tests
• the importance of providing information, facilitating choice and:
  • national policies, recommendations and criteria in relation to combined screening
  • international perspective on fetal anomaly screening and differences between UK policy and other countries.

Technical and clinical skills

By the end of this module the Clinical Scientist in HSST will have a critical understanding of current evidence and its application to fetal screening programmes.

They will be able to perform and master each technique adapting their response to meet the varying and complex challenges that will arise reliably and will be able to:

• critically evaluate the evidence base for fetal screening, including: NHS resources, recommendations and guidelines; international practice guidelines
• plan, deliver and evaluate teaching sessions for colleagues
• critically evaluate information leaflets provided for patients and their family and if appropriate develop new leaflets and methods of communication, i.e. online resources.

By the end of this module the Clinical Scientist in HSST will be expected to critically reflect on their clinical practice. They will apply in practice a range of advanced clinical and communication skills to advise and communicate effectively with patients, relevant clinicians, patients and the public, and other healthcare professionals and will be able to:

• gain informed consent, making appropriate arrangements for interpreters or senior support;
• provide clear and concise information regarding screening to patients, parents, carers and families, and explaining the outcomes and options without bias with the use of supportive documents.

Attitudes and behaviours

By the end of this module the Clinical Scientist in HSST will be expected to critically evaluate their own response to both normal and complex situations. They will consistently demonstrate the professional attributes and insights required of a Clinical Scientist in HSST working within the limits of professional competence, referring as appropriate to senior staff, and will overcome communication barriers and consider social, cultural and religious perspectives without bias.