The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling.
In: Journal of pediatric endocrinology & metabolism : JPEM, Jg. 32 (2019-11-26), Heft 11, S. 1253-1258
academicJournal
Zugriff:
Background Congenital adrenal hyperplasia (CAH) screening is facing great challenges because of a high false-positive rate and a low positive predictive value (PPV). We established and optimized 17-hydroxyprogesterone (17-OHP) cut-off values for CAH neonatal screening using a genetic screening processor (GSP) according to gestational age (GA), birth weight (BW) and age at sampling. Methods The 17-OHP concentrations in dried blood spots were measured by time-resolved immunofluorescence and were grouped in terms of GA, BW and age at sampling for 48,592 newborns. The 99.5th percentile was used to set an initial cut-off value as a reference. Results Significant differences in 17-OHP concentrations were observed among newborns with different GAs and BWs. A significant difference was observed among different sampling age groups. Finally, we defined new multitier cut-off concentrations based on GA and age at sampling. Application of the new cut-off values resulted in a 30% reduction of the positive rate and a 40% increase of the PPV. Conclusions GA, BW and sampling age time influenced the concentrations of 17-OHP. The efficiency of congenital adrenal hyperplasia screening can be substantially improved by adjusting the multitier cut-off value according to GA and age at sampling.
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The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling.
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Autor/in / Beteiligte Person: | Jiang, X ; Tang, F ; Feng, Y ; Li, B ; Jia, X ; Tang, C ; Liu, S ; Huang, Y |
Zeitschrift: | Journal of pediatric endocrinology & metabolism : JPEM, Jg. 32 (2019-11-26), Heft 11, S. 1253-1258 |
Veröffentlichung: | Mar. 2011- : Berlin : Walter de Gruyter ; <i>Original Publication</i>: London : Freund Pub. House, [1995-, 2019 |
Medientyp: | academicJournal |
ISSN: | 2191-0251 (electronic) |
DOI: | 10.1515/jpem-2019-0140 |
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