Competency information

Details

Assist with the laboratory standard operating procedures for the screening pathways (following observation of procedure by practitioner):

  • antenatal screening
  • newborn screening.

Considerations

  • The clinical signs and symptoms, biochemistry for the diagnosis of:
    • Down syndrome
    • neural tube defects
    • other fetal malformations
    • haemoglobinopathy.
  • The clinical signs and symptoms, biochemistry for the diagnosis of:
    • phenylketonuria
    • hypothyroidism
    • cystic fibrosis
    • medium chain acyl CoA dehydrogenase and other inborn errors of metabolism
    • sickle cell disease.
  • The role of internal quality control (IQC) and external quality assessment (EQA) of a screening method.

Relevant learning outcomes

# Outcome
# 1 Outcome Perform the range of biochemical, point-of-care and molecular techniques used in the work-base to investigate pregnant women, neonates and infants.
# 3 Outcome Understand the UK antenatal and newborn screening programmes and the methodologies.
# 6 Outcome Work in partnership with other clinical specialisms in the investigation of neonates and infants.