Category Archives: Screening

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

Posted in Congenital anomalies, Endocrine, Screening | Leave a comment

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

Posted in Congenital anomalies, Endocrine, Screening | Leave a comment

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

Posted in Cardiac, Congenital anomalies, Screening, Trials | Leave a comment

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

Posted in Congenital anomalies, Metabolic, Screening | Leave a comment

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

Posted in Congenital anomalies, Metabolic, Screening | Leave a comment

Tip 139: homocystinuria

The prevalence of homocystinuria is 1:144,000 (UK). The most common cause is a defect in the enzyme β-cystathionine synthase; this is referred to as “classical” homocystinuria. The screening index metabolite is methionine and the confirmatory test is plasma amino acids … Continue reading

Posted in Congenital anomalies, Metabolic, Screening | Leave a comment

Tip 138: maple syrup urine disease (MSUD)

The prevelance of MSUD is 1:116,000 in the UK. It is an autosomal recessive condition caused by defects in a group of enzymes called the ‘branched chain 2-ketoacid dehydrogenase complex’, which normally break down the amino acids leucine, isoleucine and … Continue reading

Posted in Congenital anomalies, Metabolic, Screening | Leave a comment