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Combined Gestational Age- and Birth Weight–Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia
Author(s) -
Naomi PodeShakked,
Ayala Blau,
Ben PodeShakked,
Dov Tiosano,
Naomi Weintrob,
Ori Eyal,
Am Zung,
Floris LevyKhademi,
Yardena TenenbaumRakover,
David Zangen,
David Gillis,
Orit PinhasHamiel,
Neta Loewenthal,
Liat de Vries,
Zohar Landau,
Marianna Rachmiel,
Abdulsalam AbuLibdeh,
Alon Eliakim,
David Strich,
Ilana Koren,
Alina German,
Joseph Sack,
Shlomo Almashanu
Publication year - 2019
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2018-02468
Subject(s) - congenital adrenal hyperplasia , medicine , newborn screening , cutoff , gestational age , population , birth weight , pediatrics , obstetrics , pregnancy , physics , environmental health , quantum mechanics , biology , genetics
Congenital adrenal hyperplasia (CAH) was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17α-hydroxyprogesterone (17-OHP) levels in dried blood spots. However, the success of NBS for CAH is hampered by high false positive (FP) rates, especially in preterm and low-birthweight infants.

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