Neonatal Screening for Congenital Adrenal Hyperplasia Using 17-Hydroxyprogesterone Assay in Filter Paper Blood Spots

Larsson, Agne; Hagenfeldt, Lars; Döbeln, Ulrika von; Curstedt, Tore; Gustafsson, Jan Åke; Svensson, Else

doi:10.1159/000181069

Cited by 27 publications

(10 citation statements)

References 9 publications

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“…Four salt-losing forms, two simple virilization and two non-classical forms were diagnosed. A signifi cantly higher level of false positive results was present in preterm infants than in term infants, and in low birth weight infants than in normal birth weight infants [2], A high incidence of false-positive results in preterm infants, in sick infants and in low birth weight infants has been reported in all screening programmes for CAH [3][4][5], The methods using extraction, however, show a higher speci ficity and a lower frequency of false-positive results.…”

Section: Emilia Romagna Studymentioning

confidence: 99%

The Experience of Neonatal Screening for Congenital Adrenal Hyperplasia

Cicognani¹

1992

Horm Res

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Section: Emilia Romagna Studymentioning

confidence: 99%

The Experience of Neonatal Screening for Congenital Adrenal Hyperplasia

Cicognani¹

1992

Horm Res

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“…The prevention of shock, brain damage and potential death due to an adrenal crisis, as well as correct sex assignment in affected girls are the major benefits of these programs; prevention of pseudo-precocious puberty and short stature in those affected with the simple virilizing form of CAH are additional benefits [1, 2]. Nevertheless, convincing evidence on the benefits of CAH neonatal screening has not yet been established in large collaborative studies [3].…”

Section: Introductionmentioning

confidence: 99%

Neonatal Screening Program for Congenital Adrenal Hyperplasia: Adjustments to the Recall Protocol

Gruñeiro‐Papendieck¹,

Prieto²,

Chiesa³

et al. 2001

Horm Res Paediatr

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Objective: To evaluate the influence of gestational age (GA) and birth weight (BW) on 17α-OH-progesterone (17-OHP) levels with respect to their impact on the recall rate of neonatal screening programs for congenital adrenal hyperplasia (CAH). Patients and Methods: In June 1997 we began a pilot screening program for CAH measuring 17-OHP using a fluoroimmunoassay method (DELFIA) on dried blood spots. Until September 1999, 24,153 babies were screened. Among them, we analyzed the levels of 17-OHP in 1,313 samples from healthy preterm babies (23–36 weeks) and 1,500 term babies (>37 weeks), grouped according to GA and BW. All preterm babies underwent another sampling in their 2nd week of life. Results: 5 CAHs were detected. The 30-nmol/l cutoff limit for 17-OHP in blood corresponded to the calculated 99th percentile in term newborns, while in preterm babies higher levels were found. GA and BW correlated inversely with 17-OHP levels. Conclusion: GA and BW were useful tools to adjust cutoff levels, obtaining a significant reduction in follow-up testing and psychological stress for families. The high false-positive recall rate in preterm babies can be substantially lowered with adjusted GA and/or BW criteria.

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“…[11][12][13][14] In Sweden, nationwide neonatal screening for CAH was started in 1986. 15 Approximately 1.5 million Swedish children had been screened by the end of 1999. The prevalence of CAH in the Swedish population was 1/9800, and 80% of the patients had the SW form of the disease.…”

mentioning

confidence: 99%

Neonatal Screening for Congenital Adrenal Hyperplasia: 17-Hydroxyprogesterone Levels and CYP21 Genotypes in Preterm Infants

Nordenström

Wedell

Hagenfeldt³

et al. 2001

Pediatrics

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ABSTRACT. Objective. Neonatal screening for congenital adrenal hyperplasia (CAH) among preterm infants is complicated by the fact that healthy preterm infants have higher levels of 17-hydroxyprogesterone (17-OHP) than term infants, resulting in a higher falsepositive rate. Even when gestational age-related cutoff levels after ether extraction were used, the false-positive cases primarily comprised preterm infants. The aim of the study was to optimize the procedure for neonatal screening for CAH in preterm infants.Methods. The 17-OHP levels in 6200 preterm infants were correlated to the gestational age. We also calculated the number of recalls for different putative cutoff levels of the 17-OHP by direct assay and after extraction in 1275 preterm infants who represented the most elevated cases in a population of approximately 30 000 preterm infants. The CYP21 genotypes and screening levels were determined in the 12 preterm infants with CAH diagnosed since the start of screening. The effect of possible interfering factors such as gestational age, neonatal stress, and prenatal glucocorticoid treatment for pulmonary maturation was studied.Results. The extraction procedure did not significantly improve the sensitivity or specificity of the screening, whereas it delayed the day of recall from 8 to 13 days (median). We could not demonstrate any systematic influence of the studied stress factors or the prenatal glucocorticoid treatment on the 17-OHP screening levels. In the patients with CAH, the 17-OHP levels correlated better with disease severity than with the degree of prematurity.Conclusions. On the basis of these results, we omitted the extraction step and changed the cutoff levels in the Swedish screening program for preterm infants. We chose to use a cutoff level of 400 nmol/L plasma in infants who were born before week 35 and 150 nmol/L for infants who were born in weeks 35 and 36. For detecting more patients, the cutoff level would have to be much lower, which would result in a number of falsepositive tests that we consider to be unacceptably high. There is a wide spectrum of severity of CAH. 1,2 Historically, the patients have been classified according to their salt-losing tendency. The most severe forms lead to a salt-wasting (SW) crisis, usually during the first weeks of life, as a result of a severe lack of both glucocorticoids and mineralocorticoids. The elevated androgen levels during embryogenesis cause virilization of the external genitalia in girls with CAH: clitoromegaly, fusion of the labia majora, and a common urethral and vaginal opening. A less severe form of 21-hydroxylase deficiency, with prenatal virilization but without life-threatening salt loss, usually is referred to as the simple virilizing (SV) form of CAH. The virilization can lead to uncertainty or even the wrong gender assignment in the neonatal period. Patients with milder forms of the disease, often referred to as nonclassic CAH, do not show signs of prenatal virilization at birth but develop symptoms of excess androgen production la...

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Neonatal Screening for Congenital Adrenal Hyperplasia Using 17-Hydroxyprogesterone Assay in Filter Paper Blood Spots

Cited by 27 publications

References 9 publications

The Experience of Neonatal Screening for Congenital Adrenal Hyperplasia

The Experience of Neonatal Screening for Congenital Adrenal Hyperplasia

Neonatal Screening Program for Congenital Adrenal Hyperplasia: Adjustments to the Recall Protocol

Neonatal Screening for Congenital Adrenal Hyperplasia: 17-Hydroxyprogesterone Levels and CYP21 Genotypes in Preterm Infants

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