Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia (original) (raw)
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A three-year follow-up of congenital adrenal hyperplasia newborn screening
Jornal de Pediatria, 2014
Objective: congenital adrenal hyperplasia (CAH) newborn screening can prevent neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect gender assignments, which can occur in females. However, the occurrence of false-positive results in preterm or low-birth-weight newborns creates some diagnostic difficulties, with consequent therapeutic implications. This study aimed to report the results of a pilot project for neonatal CAH screening conducted in the state of Minas Gerais, Brazil from 09/2007 to 05/2008 with a three-year follow-up. Methods: dried blood specimens were collected on filter paper cards three to seven days after birth of all newborns in the period. Samples were analyzed for 17-hydroxyprogesterone using an enzyme-linked immunosorbent assay (ELISA). Results: a total of 159,415 children were screened. The apparent incidence of the classic variant of the disease was 1:9,963, based on initial diagnoses following newborn screening. During the follow-up period, eight of 16 children initially diagnosed with CAH were reclassified as unaffected, resulting in a revised incidence of 1:19,927. The false-positive rate was 0.31%, and the positive predictive value was 2.1%. Sensitivity and specificity were 100% and 99.7%, respectively. Conclusions: newborn screening is an important public health policy in developing countries such as Brazil, where CAH remains underdiagnosed. It has great potential to identify children
Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia
Medicina, 2021
Background and Objectives: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programs are not always sensitive and effective enough to detect the disease. We aimed to evaluate impact of the national NBS on the clinical presentation of patients with CAH in Lithuania. Materials and Methods: A retrospective study was performed on data of 88 patients with CAH from 1989 to 2020. Patients with confirmed CAH were divided into two groups: (1) 75 patients diagnosed before NBS: 52 cases with salt-wasting (SW), 21 with simple virilising (SV) and two with non-classical (NC) form; (2) 13 patients diagnosed with NBS: 12 cases with SW and 1 case with SV form. For the evaluation of NBS effectiveness, data of only male infants with salt-wasting CAH were analysed (n = 36, 25 unscreened and nine screened). Data on gestational age, birth weight, weight, sympt...
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia
European Journal of Endocrinology, 2005
Objective: Newborn screening based on measurement of 17α-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Its most important rationale is prevention of a life-threatening salt-wasting (SW) crisis; in moderate forms of CAH, early diagnosis and treatment may prevent permanent negative effects of androgen overproduction. Our target was to analyse if all CAH patients who had been identified clinically before puberty would have been detected by the newborn screening. Methods: Newborn screening cards of 110 CAH patients born between 1988 and 2000 in five Middle-European countries and diagnosed prior to puberty (77 SW and 33 moderate) and cards from 920 random, healthy newborn controls were analysed. CAH screening had not yet been introduced during this time. The diagnosis was based on clinical and laboratory signs and, in most cases, on CYP21 gene mutation a...
Jornal de pediatria, 2018
To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-...
Newborn screening for congenital adrenal hyperplasia in New York State
the New York State (NYS) Newborn Screening (NBS) program screened 2 million newborns for congenital adrenal hyperplasia (CAH). The data was analyzed to determine factors that affect 17α-hydroxyprogesterone levels and assist in developing algorithm changes that would improve the positive predictive value of the methodology being used. The concentration of 17-OHP in dried blood spots was measured using the AutoDELFIA Neonatal 17-OHP kit (Perkin Elmer, Turku, Finland). During the 8 year period of this study 2476 babies were referred, 105 babies were diagnosed with CAH (90 with the salt-wasting (SW), 8 with simple virilizing (SV), 5 with non-classical CAH, and 2 with another enzyme deficiency) and, 14 with possible CAH. Three false negative cases with SV-CAH were reported to the program. Of the total 108 known cases, 74 (69%) infants were detected by newborn screening in the absence of clinical information, or, known family history. The incidence of CAH in NYS is 1 in 18,170 with a ratio of SW to SV of 8.2:1. The incidence of CAH is lower in Black infants than in White, Hispanic and Asian infants. Despite a lower mean birth weight, female infants have a lower mean 17-OHP value than male infants and are under-represented in the referred category. As per other NBS programs the false positive rate is exacerbated by prematurity/low birth weight and by over-early specimen collection.
Neonatal screening programme for congenital adrenal hyperplasia in a homogenous Caucasian population
Journal of Inherited Metabolic Disease, 1986
The considerable variation in the reported incidence of congenital adrenal hyperplasia (CAH 1, McKusick 20191) may be explained partially by the lack of a valid screening method. To evaluate the true prevalence of CAH, we examined all the newborns in the Emilia Romagna region of Italy during a period of approximately three years. Emilia Romagna is situated in northern Italy and our sample there was of a homogenous Caucasian population. For the screening programme we took advantage of the specimens collected on filter paper for neonatal screening of hypothyroidism and phenylketonuria. For the 17-OH-progesterone assay, the microfilter paper method modified from that of Pang and colleagues Piazzi et al., 1981; was used.
Newborn Screening for Congenital Adrenal Hyperplasia with Special Reference to Screening in Alaska
Annals of the New York Academy of Sciences, 1985
The adrenal synthesizes three main classes of hormones, namely glucocorticoids and sex steroids, both under ACTH control, and mineralocorticoids, under the regulation of the renin-angiotensin system. In steroid biosynthesis, 21-hydroxylase activity converts progesterone (P) to deoxycorticosterone (DOC), an aldosterone precursor, and 17-hydroxyprogesterone (1 7-OHP) to deoxycortisol, a cortisol precursor. Thus, in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, cortisol deficiency with or without aldosterone deficiency occurs. This results in excessive ACTH secretion, which stimulates excessive androgen production by the adrenals, which is responsible for virilization of external genitalia in female newborns. CAH is transmitted by an autosomal recessive gene.4 In addition, in newborns with CAH, salt-losing crises in the first few months of life as a result of aldosterone deficiency may be fatal.'^^ Female newborns with CAH may be so virilized as to be given an erroneous sex assignment, thus, causing the trauma of sex reassignment or, in
Neonatal Screening Program for Congenital Adrenal Hyperplasia in a Homogeneous Caucasian Population
Annals of the New York Academy of Sciences, 1985
The considerable variation in the reported incidence of congenital adrenal hyperplasia (CAH)'-7 may be explained partially by the lack of a valid screening method. To evaluate the true prevalence of CAH, we examined all the newborns in the Emilia Romagna region during a period of approximately three years. Emilia Romagna is situated in northern Italy and is a homogeneous sample of a Caucasian population.
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
Journal of clinical research in pediatric endocrinology, 2018
Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. Neonatal screening for CAH is effective in detecting the salt-wasting form and reducing mortality. To estimate incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy. A pilot newborn CAH screening study was carried out under the authority of Turkish Directorate of Public Health. Newborn babies ≥32 gestational weeks and ≥1500 gr birth weight from four cities between March 27- September 15, 2017 were included. Screening protocol included one sample two-tier testing. In the first step, 17α-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots obtained at 3-5th days of life. The cases with positive initial screening were tested by steroid profiling in dried blood spots using liquid chromatography-tandem mass spectrometry method to measure 17-OHP, 21-deoxycortisol, cortisol, 11-deoxycortis...