Competency information

Details

Perform the analysis and interpretation of rapid aneuploidy screening results.

Considerations

  • The technical pathway for rapid aneuploidy screening including its limitations, sensitivities, essential requirements for good laboratory practice and the risks.
  • How to identify potential for error, how this is mitigated and its potential effects.
  • Best practice guidelines compared with laboratory practice and any differences between the two.
  • Confined placental mosaicism (CPM), its origins and effects for both the fetus and the test.
  • Fetal mosaicism, its origins and effects for both the fetus and the test.
  • Further technical testing which may be required.
  • Reporting strategies.
  • Maternal cell contamination (MCC).
  • How to identify, quantify and qualify MCC.
  • Reporting
  • Polysomy, its origins and effects for both the fetus and the
  • The considerations required for twin and other multiple pregnancies.

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.