Pregnancy Neonatal and Paediatric Clinical Biochemistry

Module details

Title

Pregnancy Neonatal and Paediatric Clinical Biochemistry

Type

Specialist

Module code

SLS142

Credits

10

Requirement

Compulsory

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.

Competencies

#	Learning outcome	Competency	Action
# 1	Learning outcome 1,2	Competency Perform the analyses to laboratory standard operating procedures on patients with pregnancy associated disorders: HCG progesterone liver function tests.	Action View
# 2	Learning outcome 1,2,3	Competency 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.	Action View
# 3	Learning outcome 2	Competency Produce a draft report and interpret biochemical data using appropriate reference ranges in: pregnancy neonates and infants.	Action View
# 4	Learning outcome 1,4,5,6	Competency 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).	Action View
# 5	Learning outcome 1,5	Competency 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.	Action View
# 6	Learning outcome 1,3,6	Competency Assist with the laboratory standard operating procedures for the screening pathways (following observation of procedure by practitioner): antenatal screening newborn screening.	Action View
# 7	Learning outcome 4,5,6,7	Competency Assist with at least two of the analyses performed for the investigation of: inherited metabolic disease (IMD) sudden unexpected death in infancy (SUDI).	Action View
# 8	Learning outcome 3,4,5,6,7	Competency Identify cases that require urgent intervention and offer clinical advice on the follow-up and/or further management of the patient.	Action View
# 9	Learning outcome 7	Competency Interpret biochemical data in light of the clinical details.	Action View
# 10	Learning outcome 7	Competency Draft written reports on patients.	Action View

Assessments

You must complete:

• 2 case-based discussion(s)
• 2 of the following DOPS/ OCEs:

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

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.

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

Activities

• Attend/visit antenatal screening centres to reflect on the use of antenatal screening service and the role of GPs, nurses and other healthcare professionals in the maternal pathway.
• Attend/visit newborn screening laboratory and report on your experience in terms of its importance for patient care and the process of screening.
• Attend ward rounds and clinics to gain an appreciation of the range of pregnancy-associated clinical conditions. Reflect and report on your experience, including key learning points for your future practice. With appropriate permission, attend ward rounds and clinics at which patients are being investigated for inherited metabolic disease (IMD). Using case history data prepare a portfolio of cases to illustrate the role of the clinical biochemistry laboratory in the diagnosis, follow-up and monitoring of treatment of at least five different inborn errors of metabolism
• Participate in multidisciplinary team review meetings at which biochemical results of investigation of IMD are presented as part of the clinical record. Prepare a portfolio of relevant cases, including learning points and clinical outcome.