Prenatal screening and diagnosis of genetic conditions and Biology of pregnancy

Details

Title

Prenatal screening and diagnosis of genetic conditions and Biology of pregnancy

Type

Stage Two

Module code

HLS420

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of prenatal screening and diagnosis of genetic conditions (biology of pregnancy), understand the rationale of genetics screening and testing for prenatal screening and diagnosis, and the biology of pregnancy to support the timing and choice of tests and the interpretation of results be able to

• analyse, synthesise, evaluate and apply knowledge
• perform adapt and master a range of scientific and clinical skills and procedures
• understand the technical principles and processes underpinning these skills
• demonstrate the attitudes and behaviours necessary for professional practice as a consultant clinical scientist dealing with the complexities, uncertainties and tensions of professional practice at this level.

Knowledge and understanding

By the end of the training period the trainee will be able to demonstrate the ability to analyse, evaluate and synthesise relevant knowledge and its application to their professional practice in relation to:

• selection and validation of appropriate screening procedures and protocols in pregnancy (to identify cohorts for genetic testing)
  • clinical procedures
  • relevant (family) history
  • physical procedures
  • ultrasound anomalies
  • pre-implantation diagnosis of genetic disorders:
    • chromosomal anomalies
    • single gene disorders
    • whole genome testing
  • biochemical procedures
  • screening protocols and their application
  • awareness of national guidelines related to prenatal testing
• biology of pregnancy
  • fertilisation
  • embryogenesis
  • placental structure and function
• selection and validation of appropriate genetic tests including their basis
  • invasive
    • cytogenetic analysis
    • molecular analysis for common trisomies
    • molecular analysis of single gene disorders
  • non-invasive
    • fetal sexing
    • rhesus status
    • trisomies
    • single gene disorders
• scientific basis of the background to tissues used for prenatal tests
  • understanding of amniotic fluid, chorionic villous biopsy and free fetal DNA
• selection and use of appropriate samples
  • sample types
  • sample masses or volumes
  • storage/transit life
  • pre-processing of samples prior to genetic analysis
• understanding of the timeliness of tests in the context of pregnancy scientific quality assurance of test procedures
  • test validation
  • quality control measures
  • internal/external quality assurance
• validity and reliability of test results and their application
  • internal quality assurance
  • external quality assurance
  • value of user feedback and interaction
• costs of tests.

Technical and clinical skills

By the end of the training period the trainee will be able to demonstrate a critical understanding of current relevant research, theory and knowledge and its application to the performance, adaptation and mastery of the following technical procedures and laboratory skills:

• detection and identification of free-fetal DNA (ffDNA), cells or tissue and maternal cell contamination
• laboratory techniques relevant to the test repertoire
  • chromosome analysis
  • microarrays
  • nucleic acid technologies to include fragment analysis and sequencing systems for ensuring the quality assurance of test procedures and reagents
  • use of appropriate internal controls and monitoring assay performance
  • internal quality assurance
  • external quality assurance
• validity and reliability of test results and their applicationuse of appropriate internal controls and monitoring assay performance
  • using available IT systems to produce timely, accurate and relevant laboratory
  • reports with appropriate interpretative comments.

By the end of the training period the trainee will be able to apply knowledge of biology of pregnancy to perform, adapt and master the clinical skills necessary to manage the:

• biological and clinical context in which tests are offered
• socio-economic context in which tests are offered
• ethical issues raised by prenatal testing
• genetic tests required to investigate the risk to a pregnancy as a result of:
  • a particular family history
  • a prior finding from a screening protocol or test interpretation of results and any further follow-up testing.