Affiliation:
1. Department of Laboratory Medicine, Soonchunhyang University Cheonan
Hospital, Soonchunhyang University College of Medicine, Cheonan,
Korea
Abstract
Abstract
Background Newborn screening for congenital adrenal hyperplasia (CAH) has
benefits with a high adoption rate worldwide. It also has problems of high false
positives, which can cause stress to the patient’s family with economic
losses and unnecessary visits of newborns to hospitals. Therefore, we
investigated the influence of birth weight (BW), gestational age (GA), and GA
with sampling time on 17-hydroxyprogesterone (17-OHP) concentration and
attempted to establish the 17-OHP cutoff values in preterm, low birth weight
(LBW), and sick newborns.
Methods Newborns (n=1,071) born between October 2020 and January
2022 were screened for CAH. Samples from neonates were collected on filter paper
with the heel prick method. 17-OHP concentration was measured by time-resolved
immunofluorescence with an AutoDELFIA Neonatal 17-hydroxyprogesteron kit and
grouped in relation to BW, GA, and GA with sampling time.
Results The median age of newborns at neonatal sample collection was 6
days. 17-OHP concentration showed a statistically significant negative
correlation with BW (r=−0.488, p<0.001)
and GA (r=−0.560, p<0.001). Full-term and
preterm subgroups had a similar decreasing tendency of 17-OHP concentration with
increasing sampling time. Application of newly establishing cutoff criteria
significantly reduced recall rates to 1.16%, 0.9%, and
1.75% according to each criterion of BW, GA, and GA with sampling time,
respectively.
Conclusions This study presents new 17-OHP cutoff values for preterm, LBW,
and sick newborns. These data in our laboratory can be used as a reference by
other laboratories for establishing new cutoff criteria to help lower the high
recall rate and reduce unnecessary follow-up tests.
Subject
Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine
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