Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia

Abstract

Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia ABSTRACTObjective: To evaluate weight-adjusted strategy for levels of neonatal-17OHP in order to improve newborn screening (NBS) efficiency. Subjects and methods: Blood samples collected between 2-7 days of age from 67,640 newborns were evaluated. When N17OHP levels were ≥ 20 ng/mL, and a second sample was requested. We retrospectively analyzed neonatal-17OHP levels measured by Auto DELFIA-B024-112 assay, grouped according to birth-weight: G1: < 1,500 g, G2: 1,501-2,000 g, G3: 2,000-2,500 g and G4: > 2,500 g. 17OHP cutoff values were determined for each group using the 97. Keywords 21-hydroxylase deficiency; congenital adrenal hyperplasia; newborn screening; neonatal 17OH-progesterone levels; preterm and full-term newborns RESUMO Objetivo: Avaliamos retrospectivamente os valores da 17OHP ajustados para o peso ao nascimento para melhorar a eficiência da triagem neonatal. Sujeitos e métodos: 67.640 recém--nascidos com amostras coletadas entre 2-7 dias de vida. Uma segunda amostra foi solicitada na presença de testes com valores da 17OHP ≥ 20 ng/mL. 17OHP dosada pelo método DELFIA-B024-112 e correlacionada com o peso ao nascimento: G1 < 1.500 g, G2 1.501-2.000 g, G3 2.000-2.500 g e G4 > 2.500 g.

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction

“…The classical form frequency is approximately 1:10 000 to 1:15 000 live births, whereas the NC form is much more frequent and is estimated to have a frequency of 1 in 100-1000 in the general population (2,3,4,5). The 21-hydroxylase coding gene (CYP21A2) and its pseudogene (CYP21A1P) extend over a long region in the short arm of chromosome 6, alternating in tandem with C4A and C4B genes.…”

Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia

“…Premature children and those with low weight have higher risk of false positive results in the neonatal screening test analyzed by the fluoroimmunoassay, method, which is the international standard (5,28). Adoption of more precise cutoff levels for 17OHP, according to gestational age and birth weight, decrease the rate of false positivity and identify individuals at risk of adrenal crisis from those with mild forms of the disease (28,29). Newborns with false-positive results have elevated levels of 17OHP, but are asymptomatic.…”

Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone cut-off values based on birth weight

“…Allen et al observed that there is a tenfold increase in positive predictive value of screening results when 17-OHP levels were categorized according to birth weight 16 . To reduce false positive levels, Barra et al 17 and Hayashi et al, 7 used weight adjusted criteria in the newborn screening programs. In this study, decision values are fixed based on birth weights.…”

“…According to previous study, 75% of infants with classical CAH have the severe salt-wasting (SW) form of the disease with electrolyte abnormality and shock which leads to death. 7 Delayed diagnosis of babies with salt-wasting CAH still remains a major clinical problem. Affected infants should be followed up until there is a correct diagnosis or normalization of serum 17-OHP levels.…”