Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980–1996

Cartigny-Maciejewski, Maryse; Guilley, N; Vanderbecken, Stéphane; Gondé, S.; Stuckens, C.; C, Ponte; Weill, Jacques; Farriaux, J. P.; Paux, E.

doi:10.1016/s0929-693x(99)80202-4

Cited by 18 publications

(6 citation statements)

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“…Later, an immunofluorimetric assay was introduced, which is currently the most widely used technique worldwide [2, 23, 24]. More recent studies suggest a higher specificity and better sensitivity for mass spectrometry, especially when used as a second tier test [25–27].…”

Section: Discussionmentioning

confidence: 99%

“…False positive results are a long-standing concern of CAH neonatal screening programs [7, 9–11, 23, 27, 29]. In the past two decades, a decrease in false positive rates has been noted [10, 11, 23, 29, 30], possibly as a result of both improved 17-OHP detection methods and adjustment of diagnostic cut-off points to birth weight [7, 10]. Adjustment of diagnostic levels of 17-OHP according to birth weight tiers [7, 9, 10, 19] has been proposed as a useful strategy to minimize false positive.…”

Section: Discussionmentioning

confidence: 99%

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Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

et al. 2017

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BackgroundCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil.MethodsWe reviewed the screening database in search of babies with suspected CAH, that is, altered birth-weight adjusted 17-OHP values at screening. The following data were analyzed for this population: screening 17-OHP values, retest 17-OHP values, serum 17-OHP values for those with confirmed CAH on retest, maternal and newborn data, and family history of CAH. For the screening program, 17-OHP levels are determined on dried blood spots obtained in filter paper with GSP solid phase time-resolved immunofluorescence.ResultsOf 108,409 newborns screened, eight were diagnosed with CAH (four males, four females). The incidence of CAH in the state was 1:13,551. Six cases were identified as classic salt-wasting CAH and two were cases of virilizing CAH. The positive predictive value (PPV) of the initial screening (before diagnostic confirmation) was 1.6%. The overall rate of false positive results was 0.47%. The number of false positive results was higher among newborns with birth weight < 2000 g.ConclusionThe present results support the need for CAH screening by the public health care system in the state, and show that the strategy adopted is adequate. PPV and false positive results were similar to those reported for other states of Brazil with similar ethnic backgrounds.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

et al. 2017

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“…In France, 21-OHD screening was introduced for all neonates as part of the national screening program in 1996 after a short pilot feasibility study. 11 However, as in many other countries, routine 21-OHD screening was never evaluated. The main objective of this study was to evaluate the efficiency of the national French screening program for 21-OHD.…”

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confidence: 99%

Efficiency of Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in Children Born in Mainland France Between 1996 and 2003

Coulm

Coste²,

Tardy³

et al. 2012

Arch Pediatr Adolesc Med

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Objective: To assess the efficiency of the French national screening program for 21-hydroxylase deficiency (21-OHD). Neonatal screening for congenital adrenal hyperplasia due to 21-OHD is mainly intended to prevent death due to salt wasting but remains controversial because of the number of false-positive results and the ease with which most female cases can be identified by virilized genitalia at birth.

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“…France started in 1985 a screening program that became nationwide in 1997. The prevalence of CAH in the French population was calculated to be 1/15,956 (5).…”

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confidence: 99%

Effect of Single and Multiple Courses of Prenatal Corticosteroids on 17-Hydroxyprogesterone Levels: Implication for Neonatal Screening of Congenital Adrenal Hyperplasia

et al. 2004

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Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980–1996

Cited by 18 publications

References 20 publications

Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

Efficiency of Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in Children Born in Mainland France Between 1996 and 2003

Effect of Single and Multiple Courses of Prenatal Corticosteroids on 17-Hydroxyprogesterone Levels: Implication for Neonatal Screening of Congenital Adrenal Hyperplasia

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