PMID: 9003862Jan 1, 1997Paper

Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels

The Journal of Pediatrics
David B AllenA Slyper

Abstract

To evaluate the efficacy and efficiency of weight-adjusted threshold levels for 17-hydroxyprogesterone (17-OHP) in screening newborn infants for 21 hydroxylase deficiency-congenital adrenal hyperplasia (21-OH-D-CAH). Analysis of the number of false-positive reports and diagnoses in infants, of 21-OH-D-CAH with the use of two strategies. Before October 1993, separate criteria for definite abnormal 17-OHP levels were established and implemented for 41,846 infants on the basis of birth weight: either less than 2200 gm (17-OHP level, 90 ng/ml) or 2200 gm or more (40 ng/ml). To reduce the burden of follow-up testing in low birth weight infants, criteria for definite abnormal 17-OHP results were statistically determined for four, rather than two, birth weight divisions: 1299 gm or less (17-OHP level > or = 165 ng/ml), 1300 to 1600 gm (> or = 135 ng/ml), 1700 to 2200 gm (> or = 90 ng/ml), and more than 2200 gm (> or = 40 ng/ml). These criteria were applied to the next 149,684 infants screened, and rates of false-positive test results and of false-positive diagnoses of 21-OH-D-CAH were compared. Before implementation of four-tiered weight-adjusted 17-OHP criteria, 205 definite abnormal reports yielded four confirmed cases of 21-OH-D-CA...Continue Reading

References

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