Pregnancy Neonatal and Paediatric Clinical Biochemistry (SLS142)

10 credits

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.

  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.
Number Work-based 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.
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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.
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3 2

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

  • pregnancy
  • neonates and infants.
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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).
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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.

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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.
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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).
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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.

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9 7

Interpret biochemical data in light of the clinical details.

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10 7

Draft written reports on patients.

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You must complete
2 Case-based discussion(s)
2 of the following DOPS / OCEs
Assessment Title Type
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 DOPS
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 OCE

Important information

The academic parts of this module will be detailed and communicated to you by your university. Please contact them if you have questions regarding this module and its assessments. The module titles in your MSc may not be exactly identical to the work-based modules shown in the e-portfolio. Your modules will be aligned, however, to ensure that your academic and work-based learning are complimentary.

Learning Outcomes

  1. Explain and recognise the non-pathological changes in biochemical parameters during pregnancy and the need for specific reference ranges.
  2. Discuss the clinical use of biochemical parameters in pregnancy and the interpretation of results in a range of conditions affecting mother and/or fetus.
  3. Describe the design, operation and performance of biochemical and molecular techniques used in pregnancy and paediatric biochemistry.
  4. Explain the requirements for antenatal and newborn screening programmes.
  5. Describe the design, operation and performance of analytical techniques used in antenatal and newborn screening programmes.
  6. Discuss the clinical and laboratory investigation of a neonate who is failing to thrive and an infant presenting with: (i) hypoglycaemia; (ii) hyperammonaemia, and (iii) jaundice.
  7. Explain the need to convey complex biochemical information to inform the multidisciplinary team about cause and consequences of inborn errors of metabolism.

Indicative Content

  • Pregnancy: normal maternal and fetal physiology; complications, detection of abnormalities
  • Implications of pregnancy on reference ranges
  • Monitoring of at-risk pregnant patients with diabetes, thyroid disease, liver disease
  • Testing in pregnancy for hydatidiform mole, ectopic pregnancy, choriocarcinoma
  • Biochemical antenatal screening for Down Syndrome, neural tube defects and other fetal malformations
  • Neonates: biochemical problems of the newborn, including fluid balance, hypoglycaemia, jaundice, liver disease, calcium homeostasis, hypomagnesaemia, hyperammonaemia; intersex disorders
  • Implications of testing neonates: sample size, effect of matrix on methods, reference ranges
  • Biochemical newborn screening: e.g. phenylketonuria; medium chain acyl CoA dehydrogenase and other inborn errors of metabolism; hypothyroidism; cystic fibrosis, sickle cell disease
  • Childhood: hypoglycaemia; lactic acidosis; hyperammonaemia; calcium and phosphate disorders; Reye’s syndrome; precocious puberty; delayed puberty
  • Inborn errors of metabolism: principles of investigation; quantitative and qualitative enzyme abnormalities; disorders of amino acids, organic acids, mucopolysaccharides, peroxisomes, urea cycle, purines and pyrimidines, mitochondrial and lysosomal disorders
  • Methodology for biochemical investigation of neonates and children, including chromatography tandem mass spectrometry and molecular diagnostics