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Neonatal screening

Extracted from Myles Textbook for Midwives 15th Edition. Diane M. Fraser, Margaret A. Cooper (Eds). London; Churchill Livingstone: 2009. Courtesy Elsevier.

Babies are screened for inborn errors of metabolism and endocrine disorders, which are detected by means of a blood test, e.g. the Guthrie test.* This is taken on day 4-6 after birth for the detection of phenylketonuria, hypothyroidism and cystic fibrosis. Some centres also test routinely for galactosaemia, a rare inherited disease but among the most common disorders of carbohydrate metabolism, and which can be a life-threatening condition in the neonatal period.

*Blood, obtained from a heel prick made with a stilette on the lateral aspect of the heel to avoid nerves and blood vessels is dripped on to circles on an absorbent card to which full details of the baby's identity and history have been entered.

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