Competency information

Details

Perform the analysis and interpretation of Prenatal Chromosomal Microarray.

Considerations

  • The technical pathway including its limitations and sensitivities, the essential requirement for good laboratory practice and the risks.
  • How to identify and describe potential for error, how this is mitigated, its potential effects and the reporting strategy.
  • Best practice guidelines compared with laboratory practice and the differences between the two.
  • The concept of incidental findings and guidance for reporting these results.
  • Confined placental mosaicism (CPM), its origins and effects for both the fetus and the test and technical testing which may be required.
  • Maternal cell contamination (MCC).
  • How to identify, quantify and qualify MCC and further technical testing which may be required.
  • Fetal mosaicism, its origins and effects for both the fetus and the test and further technical testing which may be required.
  • Polysomy, its origins and effects for both the fetus and the test and further technical testing which may be required.
  • Validation and verification of findings.
  • Describe how findings are classified, from benign to pathogenic.

Relevant learning outcomes

# Outcome
# 1 Outcome Apply an appropriate testing strategy (the right sample, the right test, for the right reasons) meeting all relevant KPIs (key performance indicators, however defined).
# 2 Outcome Analyse and interpret results of specific defined tests.
# 3 Outcome Identify and respond appropriately to results.
# 5 Outcome Act in accordance with the high level of laboratory risk associated with prenatal testing and within limits of their responsibilities.