Intended for healthcare professionals

Letters

Neonatal screening in New Zealand

BMJ 1996; 312 doi: https://doi.org/10.1136/bmj.312.7026.312 (Published 03 February 1996) Cite this as: BMJ 1996;312:312
  1. Dianne Webster,
  2. Charles Essex
  1. Director National Testing Centre, PO Box 872, Auckland, New Zealand
  2. Consultant community paediatrician Child Development Unit, Gulson Hospital, Coventry CV1 2HR

    EDITOR,—Alison Streetly and colleagues describe the neonatal screening programmes in the United Kingdom.1 Screening for phenylketonuria and congenital hypothyroidism is almost universal, but other conditions have been added to meet regional needs (or regional skills and interests). The authors comment that not all programmes have been assessed against the criteria that determine whether a screening programme is suitable.2

    In New Zealand seven conditions are screened for (table 1), with roughly 95% coverage of about 60000 births annually. Some of the tests may not meet the commonly cited criteria for a screening test; many people involved in neonatal screening acknowledge, however, that it may not be necessary to meet all the criteria—that the criteria should be considered and that a rational decision to screen can be made if not all the criteria are met. It has also been suggested that the criteria, now 27 years old, should be reconsidered and, for instance, that the requirement for a “treatment to be available” should be replaced by “scope for action to be available.”

    Table 1

    Diseases screened for in New Zealand neonatal screening programme and their incidence

    View this table:

    Recommendations for neonatal screening tests for New Zealand and Australia are made by a joint subcommittee of the Human Genetics Society of Australasia and the Australian College of Paediatrics. The subcommittee recommends unequivocally screening for phenylketonuria and congenital hypothyroidism and also recommends screening for cystic fibrosis, galactosaemia, and congenital adrenal hyperplasia.

    The additional screening tests in New Zealand are justified on the basis of our scattered population and the fact that standards of diagnosis of metabolic disease in sick children differ in different parts of the country. In the four cases of maple syrup urine disease diagnosed most recently by the screening programme no metabolic tests had been requested on the infants before the likely diagnosis was reported by the screening programme, although all the infants had symptoms suggestive of metabolic disease. The marginal cost of adding screening for biotinidase deficiency and maple syrup urine disease to screening for the five other conditions is less than $NZ1 (43p) per infant screened.

    The efficacy of screening is constantly reviewed, and screening for homocystinuria was stopped in 1986. This was because the decrease in the use of cows' milk as infant food plus the fact that the screening test was being done increasingly early meant that the protein intake of infants with homocystinuria was insufficient to result in pathological values of methionine at the time the sample is taken.

    References

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