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- Title
Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.
- Authors
Hayashi, Giselle Y.; Carvalho, Daniel F.; Miranda, Mirela C.; Faure, Cláudia; Vallejos, Carla; Brito, Vinícius N.; Rodrigues, Andresa De Santi; Madureira, Guiomar; Mendonca, Berenice B.; Bachega, Tânia A.S.S.
- Abstract
Introduction The primary concern related to congenital adrenal hyperplasia ( CAH) newborn screening ( NBS) is the high rate of false-positive results ( FPR) associated with prematurity; false-negative results ( FNR) can also occur due to precocious sample collection. Objective To determine the neonatal 17-hydroxyprogesterone (N17 OHP) normal range in newborns in Sao Paulo using different references according to age and birthweight (BW) and to establish the optimal NBS cut-off levels. Methods Neonatal 17-hydroxyprogesterone levels from 271 810 newborns ( NBs) according to sample collection time (G1: 48-<72 h and G2: ≥72 h) and BW (≤1500 g, 1501-2000 g, 2001-2500 and >2500 g) were evaluated. N17 OHP was measured by an fluoroimmunoassay, and serum 17 OHP was measured by liquid chromatography-mass spectrometry. Affected and asymptomatic NBs with persistently increased 17 OHP levels were submitted to CYP21A2-sequencing. Results Neonatal 17-hydroxyprogesterone levels in G1 were lower than G2 in all BW groups ( P < 0·001). The FPR rate in G1/G2 was 0·2% using the 99·8th and 0·5% using the 99·5th percentile. The 99·8th percentile N17 OHP value was the best cut-off for distinguishing between unaffected and affected NBs. Forty-four salt wasters, and five simple virilisers were diagnosed; N17 OHP levels ranged from 93·3 to 2209·8 nmol/l, and no affected neonates with FNR were identified. The positive predictive value in G1 and G2 using the 99·8th percentile was 5·6% and 14·1%, respectively, and 2·3% and 7%, respectively, using the 99·5th percentile. Molecular tests identified two NBs with the nonclassical form among the 29 FPR. Conclusion Neonatal 17-hydroxyprogesterone levels adjusted to sample collection age and birthweight reduced the FPR, and the use of N17 OHP values based upon the 99·8th percentile improved the NBS efficacy.
- Subjects
17-hydroxyprogesterone; BIRTH weight; ADRENOGENITAL syndrome; NEWBORN screening; PREMATURE infants
- Publication
Clinical Endocrinology, 2017, Vol 86, Issue 4, p480
- ISSN
0300-0664
- Publication type
Article
- DOI
10.1111/cen.13292