Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels☆,☆☆
Section snippets
METHODS
In March 1993, screening for CAH was added to the battery of tests routinely performed on approximately 70,000 newborn infants each year in Wisconsin. Dried whole blood samples, collected on filter paper at the time of hospital discharge, were assayed for 17-OHP by polyclonal antibody radioimmunoassay (Neonatal 17-OH Progesterone Kit; Diagnostic Products Corp.). Electronic processing of the raw data from a gamma counter (model 1290, TM Analytic, Inc., Elk Grove Village, Ill.) produced a
RESULTS
Results are summarized in Table III.
Empty Cell Empty Cell Infant birth weight* Empty Cell Empty Cell Strategy (n) Abnormal report classification <2200 gm ≥2200 gm Positive predictive value of test CAH Incidence Two-tiered criteria (one Definite 58 (0) 153 (4) 2% 1:10,461 LBW division) [41,846] Possible 161 (0) 0 (0) 0% Retrospective application of Definite 6 (0) 5 (2) 18% 1:10,461 multitiered criteria (i.e. 3 LBW divisions) to initial Possible 27 (0) 113 (2)
DISCUSSION
The development of an assay for the 17-OHP concentration using a heel-stick capillary blood specimen impregnated on filter paper made screening for 21-OH-D–CAH possible. 5 A pilot newborn screening program in Alaska first demonstrated the feasibility of newborn screening for CAH. 6 Experience gleaned from this and other early programs suggests that early diagnosis and treatment of affected but symptom-free boys can be accomplished with filter-paper newborn screening. 7 However, although pilot
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Reprint requests: David B. Allen, MD, H4/448 CSC—Pediatrics, 600 Highland Ave., Madison, WI 53792.
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