Category Archives: Screening

Tip 143: glutaric aciduria type 1

The prevalence is 1:110,000 (EU). It is an autosomal recessive condition caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. The screening index metabolite is glutaryl carnitine and the confirmatory test is plasma acylcarnitines, urinary organic acids, 3–OH glutarate and … Continue reading

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Tip 134: MCAD

MCAD (medium chain acyl-CoA dehydrogenase) deficiency is the most common fatty oxidation defect and is inherited in an autosomal recessive fashion. It became part of the UK newborn screening programme in 2009. The deficient enzyme is part of the β-oxidation pathway, which … Continue reading

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Tip 133: expanded newborn screening programme (UK)

In early 2015, the UK National Screening Committee added an additional four inherited metabolic diseases to the newborn bloodspot screening programme. These are: maple syrup urine disease (MSUD) homocystinuria (pyridoxine unresponsive) (HCU) isovaleric acidaemia (IVA) glutaric aciduria type 1 (GA1) External … Continue reading

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Tip 132: newborn blood spot screening (UK) history

1969 – The Guthrie test for phenylketonuria (PKU) begins nationally in the UK 1981 – TSH for congenital hypothyroidism added 2001 – IRT (immuno-reactive trypsinogen) for cystic fibrosis added 2006 – Screening for sickle-cell disease added 2009 – Screening for MCAD (medium chain … Continue reading

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Tip 124: subconjunctival haemorrhage

Subconjunctival haemorrhage at delivery is frequent and normal. It results from the breakage of small vessels during the pressure of delivery. It is always confined to the limits of the sclera, is asymptomatic, does not affect vision, and spontaneously resolves in … Continue reading

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Tip 123b: prolonged rupture of membranes

According to the NICE guidelines, asymptomatic term babies should be closely observed for the first 12 hours of life (at 1 hour, 2 hours, 6 hours and 12 hours) for: Respiratory rate, work of breathing (grunting, subcostal recession, nasal flare), central … Continue reading

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Tip 120: cryptorchidism

The prevalence of neonatal cryptorchidism in the UK is approximately 6%. All infants with bilateral undescended testes on routine examination, should be seen by a paediatrician within 24h and investigated if not palpable. References: Acerini, C. L., Miles, H. L., Dunger, D. … Continue reading

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