Module - Pregnancy Neonatal and Paediatric Clinical Biochemistry (SLS142)

STP

Aim of this module

This module will provide the trainee with the knowledge and understanding of the physiology of normal pregnancy and the impact on biochemical parameters. They will understand maternal and neonatal screening programmes and the investigation of neonates and children who may have inborn errors of metabolism. In the work-based module they will be expected to apply this knowledge as they perform assays to assess maternal, neonatal and paediatric status using a range of methods, and gain experience of the interpretation of results in a range of conditions.

Work-based learning outcomes


  1. Perform the range of biochemical, point-of-care and molecular techniques used in the work-base to investigate pregnant women, neonates and infants.
  2. Use reference ranges for the interpretation and reporting of results from pregnant women, neonates and infants.
  3. Understand the UK antenatal and newborn screening programmes and the methodologies.
  4. The clinical and laboratory investigation and management of neonates and infants with failure to thrive, hypoglycaemia, jaundice, and hyperammonaemia.
  5. The clinical and laboratory investigation and management of neonates and infants suspected of having an inborn error of metabolism.
  6. Work in partnership with other clinical specialisms in the investigation of neonates and infants.
  7. Interpret and report results of clinical and laboratory investigations relating to pregnancy, neonatology and paediatric clinical biochemistry in the correct clinical context.

Work-based Competencies


Learning outcome Title Knowledge
1 1,2

Perform the analyses to laboratory standard operating procedures on patients with pregnancy associated disorders:

  • HCG
  • progesterone
  • liver function tests.
  • The clinical signs and symptoms, biochemistry and diagnosis of pregnancy-associated disorders, including the need for surveillance with molar pregnancies:
    • ectopic pregnancy
    • hydatidiform mole
    • choriocarcinoma
    • HELLP syndrome
    • miscarriage.
  • Role of imaging in the diagnosis of the complications of pregnancy.
2 1,2,3

Perform the analyses to laboratory standard operating procedures on common biochemical disorders associated with pregnancy:

  • oral glucose tolerance test
  • HbA1c/fructosamine
  • thyroid function tests
  • liver function tests
  • uric acid
  • bile acids.
  • The clinical signs and symptoms, biochemistry and diagnosis of common disorders of pregnancy:
    • diabetes (screening and monitoring)
    • thyroid disease
    • liver disease (bile acids).
3 2

Produce a draft report and interpret biochemical data using appropriate reference ranges in:

  • pregnancy
  • neonates and infants.
  • Why reference ranges differ in:
    • pregnancy
    • neonates and infants
  • The complexity and compromise involved in deriving reference values for neonates and infants.
4 1,4,5,6

Perform the analyses to laboratory standard operating procedures, or follow the local protocol for the investigation of an acutely sick neonate:

  • ammonia
  • glucose
  • bilirubin (total and conjugated).
  • The clinical signs and symptoms, biochemistry and differential diagnosis and investigation of the following conditions:
    • hyperammonaemia
    • hypoglycaemia
    • prolonged jaundice in a neonate
    • hypo- and hypercalcaemia
    • hypo- and hypermagnesaemia
    • CAH and salt wasting
    • ambiguous genitalia.
5 1,5

Perform the analyses to laboratory standard operating procedures, or following the local protocol in the investigation of a patient with suspected inborn error of metabolism.

  • The clinical features and the clinical and laboratory investigation of neonates and infants suspected as having an inborn error of metabolism:
    • amino acid disorders
    • organic acid disorders
    • urea cycle disorders
    • fatty acid oxidation defects
    • carbohydrate disorders
    • lysosomal storage disorders
    • respiratory chain disorders
    • peroxisomal disorders
    • purine and pyrimidine disorders.
  • The laboratory techniques involved in the investigation of an inborn error of metabolism:
    • gas chromatography
    • liquid chromatography
    • tandem mass spectrometry
    • molecular diagnostics.
6 1,3,6

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

  • antenatal screening
  • newborn screening.
  • 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.
7 4,5,6,7

Assist with at least two of the analyses performed for the investigation of:

  • inherited metabolic disease (IMD)
  • sudden unexpected death in infancy (SUDI).
  • The clinical signs and symptoms, biochemistry and diagnosis of inborn errors of metabolism, for example:
    • orntihine transcarbamylase deficiency
    • maple syrup urine disease
    • methylmalonic acidaemia.
  • The standardised protocol for collection and storage of appropriate samples in the (expected) event of SUDI.
8 3,4,5,6,7

Identify cases that require urgent intervention and offer clinical advice on the follow-up and/or further management of the patient.

  • Time-critical and grossly abnormal results requiring urgent clinical interventions for the disorders in this module.
  • The type and range of interventions available for follow-up/further management of pregnancy, neonate and paediatric disorders and disease.
  • Responsibilities for follow-up, management and intervention.
9 7

Interpret biochemical data in light of the clinical details.

  • Correct use of data in relation to the full range of investigations specified within this module.
10 7

Draft written reports on patients.

  • Requirements for reports, including sources of information, appropriate use of patient records, reference materials and current national/international guidelines.

Work-based assessment


Complete 2 Case-Based Discussion(s)
Complete 2 of the following DOPS and/or OCEs
Type Title
DOPS Perform a pregnancy test
DOPS Interpret results from oral glucose tolerance tests in pregnancy
DOPS Label an acylcarnitine parent ion scan
DOPS Identify and label a urine organic acid chromatogram and quantitate results if appropriate
DOPS Perform analyser maintenance for a New Born Screening assay
DOPS Select the appropriate testing procedure for a neonate with ambiguous genitalia and arrange urgent referral of samples if required
DOPS Perform New Born Screening C8 carnitine assay
DOPS Perform New Born Screening TSH assay
DOPS Interpret an ERNDIM EQA report
DOPS Prepare a stock standard i.e. one used for calibration
DOPS Assist with the collection of non routine samples at the bedside
DOPS Select the appropriate testing procedure for the investigation of hypoglycaemia
DOPS Select the appropriate testing procedure for the investigation of hyperammonaemia
DOPS Select the appropriate testing procedure for the investigation of neonatal jaundice
OCE Explain the procedure for undertaking a sweat test to a child parent
OCE Explain the preparation and procedure for an oral glucose tolerance test to a patient