Review of neonatal screening programme for phenylketonuria.

Abstract

Objective-To review the neonatal screening programme during 1984-8. Design-Analysis of data from screening laboratories and paediatricians.

Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer

“…Other non-traditional therapies are also being used such as large neutral amino acids (LNAA) which have shown to be beneficial in maintaining low phenylalanine levels in the body without the need of dietary control ) and other therapies that are still under experimentation such as gene therapy, enzyme replacement therapy and cell transplantation (Mitchell et al 2011;van Spronsen and Enns 2010). The licence committee were satisfied that our revised application provided clarification on the likelihood of PKU being detected in the newborn: there is a neonatal screening programme in the UK to test all newborns at 6-14 days, but it has been shown that there are regional variations in the timing of this test and the time of starting treatment, with about 8% of newborns with severe PKU still not treated by 20 days after birth (Smith et al 1991). After studying our revised application and correspondence from the NSPKU, the licensing committee concluded that even if the condition is detected at birth and is treated immediately, the lifelong dietary regime and medication in the child can be seriously intrusive and socially and psychologically invasive and damaging.…”

Maternal phenylketonuria in pregnancy

“…7 The overall incidence of PKU in the UK is 7-11/100 000 or 1 in 10-15 000 live births. 8,9 A universal screening programme for PKU was introduced in the 1960s. Data available in the UK over a 30-year period (1964-93) revealed 2259 infants with PKU, of whom 976 (43.2%) were females (Table 1).…”

Impact of incomplete coverage of neonatal dried blood spot screening on estimating HIV-1 seroprevalence

“…National neonatal screening for phenylketonuria began in 1969 and other conditions have been added [11][12][13]. These programmes aim at 100% coverage at an early age and every live born baby should have a completed screening test by 20 days of age [11].…”

“…These programmes aim at 100% coverage at an early age and every live born baby should have a completed screening test by 20 days of age [11]. However, uptake of testing (coverage) is often incomplete [11,12,14,15], with differential coverage in ethnic groups.…”

“…These programmes aim at 100% coverage at an early age and every live born baby should have a completed screening test by 20 days of age [11]. However, uptake of testing (coverage) is often incomplete [11,12,14,15], with differential coverage in ethnic groups. One recent audit survey in two deprived areas in the South of London, England found that coverage levels among babies born to women of ethnic group black african (referred to henceforth as African) was 95 6 % compared to 98&2 % for babies born to women from all other ethnic groups thus giving a relative inclusion ratio (RIR) of 0975 for African mothers versus all other mothers for whom ethnic group was known [16].…”