Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol.
OBJECTIVE
To evaluate the influence of gestational age (GA) and birth weight (BW) on 17 alpha-OH-progesterone (17-OHP) levels with respect to their impact on the recall rate of neonatal screening programs for congenital adrenal hyperplasia (CAH).


METHODS
In June 1997 we began a pilot screening program for CAH measuring 17-OHP using a fluoroimmunoassay method (DELFIA) on dried blood spots. Until September 1999, 24,153 babies were screened. Among them, we analyzed the levels of 17-OHP in 1,313 samples from healthy preterm babies (23-36 weeks) and 1,500 term babies (>37 weeks), grouped according to GA and BW. All preterm babies underwent another sampling in their 2nd week of life.


RESULTS
5 CAHs were detected. The 30-nmol/l cutoff limit for 17-OHP in blood corresponded to the calculated 99th percentile in term newborns, while in preterm babies higher levels were found. GA and BW correlated inversely with 17-OHP levels.


CONCLUSIONS
GA and BW were useful tools to adjust cutoff levels, obtaining a significant reduction in follow-up testing and psychological stress for families. The high false-positive recall rate in preterm babies can be substantially lowered with adjusted GA and/or BW criteria.
Gruñeiro-Papendieck
L
L
Fundación de Endocrinología Infantil, Centro de Investigaciones Endocrinológicas CEDIE, División de Endocrinología Hospital de Niños R. Gutiérrez, Capital Federal, Argentina. protir@cedie.guti.gov.ar
Prieto
L
L
Chiesa
A
A
Bengolea
S
S
Bossi
G
G
Bergadá
C
C
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D001724:Birth Weight; D005260:Female; D005500:Follow-Up Studies; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening / Q000379:methods*; D010865:Pilot Projects; D012965:Sodium Chloride / Q000378:metabolism; D014770:Virilism / Q000209:etiology
D012965:Sodium Chloride; D019326:17-alpha-Hydroxyprogesterone