Category Archives: Screening

Tip 7: developmental dysplasia of the hip (DDH)

Regarding multiple births, if any baby falls into a category requiring screening for DDH (including breech position), they should all be screened. Reference: Newborn and Infant Physical Examination Screening Programme Standards 2016/17. Publication Date: April 2016. PHE publications gateway number: 2015772 … Continue reading

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Tip 5: audiology

About 1 in 850 babies born in the UK will have a permanent childhood hearing impairment. This increases to about 1 in 350 babies who have been in NICU for >48 hours. External link: NHS Newborn Hearing Screening Programme

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Tip 223: congenital hypothyroidism 2

About 0.2% of infants having the national newborn blood spot test have a high TSH requiring recall. External link: UK National Screening Committee (2012). Congenital hypothyroidism is suspected. Reference: Rennie & Roberton’s Textbook of Neonatology, 5th Ed, 2005. London: Churchill. Previously published: 17/02/15

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Tip 221: congenital hypothyroidism

The usual mode of presentation is by the finding of an elevated TSH detected on the Newborn Screening Programme, as neonates are usually subclinically affected. It affects 1 in 3000 live births. If clinical features are present, they include: dry skin, … Continue reading

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Tip 159: pulse oximetry screening

PulseOx is a large multicentre UK study of pulse oximetry screening (~20,000 neonates >35/40). 53 had major congenital heart disease (24 critical), a prevalence of 2·6/1000 live births. 35 were suspected from antenatal ultrasound scan. After excluding these, the sensitivity of pulse … Continue reading

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Tip 144: isovaleric acidaemia

The prevalence is 1 in 155,000 (EU). It is due to a deficiency of isovaleryl-CoA dehydrogenase involved in the breakdown of the amino acid, leucine. It is an autosomal recessive disorder. The screening metabolite is isovaleryl carnitine, C5. The confirmatory … Continue reading

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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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