Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

Linde, Annelieke A A van der; Schönbeck, Yvonne; Kamp, H.J. van der; Akker, Erica van den; Albada, Mirjam E. van; Boelen, Anita; Finken, Martijn J J; Hannema, Sabine E.; Hoorweg-Nijman, Gera; Odink, Roelof J.; Schielen, Peter C. J. I.; Straetemans, Saartje; Trotsenburg, A S Paul van; Grinten, Hedi L Claahsen–van der; Verkerk, P.H.

doi:10.1136/archdischild-2018-315972

Cited by 22 publications

(24 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Over the past 20 years screening programs for CAH have reported variable results for recall rates ranging between 0.002-1.2%, for PPV ranging between 0.1-60% and for sensitivity ranging between 75-100% ( 5 , 6 , 7 , 8 , 9 , 10 , 11 ). Despite higher costs, recall rates are lower and PPVs are better with two-tier screening programs.…”

Section: Discussionmentioning

confidence: 99%

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

Güran¹,

Tezel²,

Çakır³

et al. 2020

Jcrpe

View full text Add to dashboard Cite

Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of ≥32 gestational weeks and ≥1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17α-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at

show abstract

Section: Discussionmentioning

confidence: 99%

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

Güran¹,

Tezel²,

Çakır³

et al. 2020

Jcrpe

View full text Add to dashboard Cite

show abstract

“…Alternative diagnostic methods and screening protocols have previously been evaluated. Suggestions for quality improvement include gestational age-based cut-off points [ 5 , 20 ] or a combination of birthweight and gestational age [ 21 ]. Implementation of a second screen at two weeks of life improves the positive predictive value as noted but adds cost and may be impractical or logistically difficult in some regions.…”

Section: Discussionmentioning

confidence: 99%

Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States

Speiser

Chawla

Chen

et al. 2020

IJNS

View full text Add to dashboard Cite

Newborn screening for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is mandated throughout the US. Filter paper blood specimens are assayed for 17-hydroxyprogesterone (17OHP). Prematurity, low birth weight, or critical illness cause falsely elevated results. The purpose of this report is to highlight differences in protocols among US state laboratories. We circulated a survey to state laboratory directors requesting qualitative and quantitative information about individual screening programs. Qualitative and quantitative information provided by 17 state programs were available for analysis. Disease prevalence ranged from 1:9941 to 1:28,661 live births. Four state laboratories mandated a second screen regardless of the initial screening results; most others did so for infants in intensive care units. All but one program utilized birthweight cut-points, but cutoffs varied widely: 17OHP values of 25 to 75 ng/mL for birthweights >2250–2500 g. The positive predictive values for normal birthweight infants varied from 0.7% to 50%, with the highest predictive values based in two of the states with a mandatory second screen. Data were unavailable for negative predictive values. These data imply differences in sensitivity and specificity in CAH screening in the US. Standardization of newborn screening protocols could improve the positive predictive value.

show abstract

“…17 In addition, not all programmes can provide the result in the first week of life. 20,[28][29][30] For better and efficient management of the CAH screening, each screening programme needs persistent improvement in quality.…”

Section: Discussionmentioning

confidence: 99%

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

Gau

Konishi

Takasawa

et al. 2020

Clinical Endocrinology

View full text Add to dashboard Cite

BackgroundOne of the major purposes of newborn screening for 21‐hydroxylase deficiency (21OHD) is preventing life‐threatening adrenal crisis. However, the details of adrenal crisis in newborns are not precisely documented.AimWe aimed to clarify the clinical details of salt‐wasting in newborn 21OHD patients.MethodsBased on the follow‐up survey of the screening in Tokyo from 1989 to 2017, we retrospectively analysed the conditions of classical 21OHD neonates before the initiation of therapy.ResultsOne hundred classical 21OHD patients (55 male, 45 female) were analysed. The age at the first hospital visit was 0–20 days with sex difference (male: 9.0 ± 3.5 days; female: 6.2 ± 3.9 days). Thirty‐seven (37.4%) patients exhibited severe salt‐wasting (SSW), that is, Na < 130 mEq/L, K > 7 mEq/L or Na/K ratio < 20; except for one case, SSW developed in or after the second week of life. The serum concentrations of Na, K and Na/K were linearly correlated with age in days (R2 = .38, .25, and .34 respectively), suggesting that the risk of SSW increases linearly without a threshold. The age at which the regression lines reached Na < 130 mEq/L, K > 7 mEq/L and Na/K < 20 was approximately coincided, 11.1, 12.3 and 11.2 days, respectively. All SSW patients exhibited decreased body weight from birth in their second week of life.ConclusionOur data revealed that the risk of developing SSW increases during the second week of life without a threshold, and for preventing SSW, early intervention, ideally during first week of life, is desirable. An increased body weight in the second week of life indicates the absence of SSW.

show abstract

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

Cited by 22 publications

References 34 publications

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

Contact Info

Product

Resources

About