PMID- 27331001
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160622
LR  - 20200930
IS  - 2214-4269 (Print)
IS  - 2214-4269 (Electronic)
IS  - 2214-4269 (Linking)
VI  - 7
DP  - 2016 Jun
TI  - Newborn screening for congenital adrenal hyperplasia in New York State.
PG  - 1-7
LID - 10.1016/j.ymgmr.2016.02.005 [doi]
AB  - From 2007 to 2014 the New York State (NYS) Newborn Screening (NBS) program 
      screened 2 million newborns for congenital adrenal hyperplasia (CAH). The data 
      was analyzed to determine factors that affect 17alpha-hydroxyprogesterone levels and 
      assist in developing algorithm changes that would improve the positive predictive 
      value of the methodology being used. The concentration of 17-OHP in dried blood 
      spots was measured using the AutoDELFIA Neonatal 17-OHP kit (Perkin Elmer, Turku, 
      Finland). During the 8 year period of this study 2476 babies were referred, 105 
      babies were diagnosed with CAH (90 with the salt-wasting (SW), 8 with simple 
      virilizing (SV), 5 with non-classical CAH, and 2 with another enzyme deficiency) 
      and, 14 with possible CAH. Three false negative cases with SV-CAH were reported 
      to the program. Of the total 108 known cases, 74 (69%) infants were detected by 
      newborn screening in the absence of clinical information, or, known family 
      history. The incidence of CAH in NYS is 1 in 18,170 with a ratio of SW to SV of 
      8.2:1. The incidence of CAH is lower in Black infants than in White, Hispanic and 
      Asian infants. Despite a lower mean birth weight, female infants have a lower 
      mean 17-OHP value than male infants and are under-represented in the referred 
      category. As per other NBS programs the false positive rate is exacerbated by 
      prematurity/low birth weight and by over-early specimen collection.
FAU - Pearce, Melissa
AU  - Pearce M
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA.
FAU - DeMartino, Lenore
AU  - DeMartino L
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA.
FAU - McMahon, Rebecca
AU  - McMahon R
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA.
FAU - Hamel, Rhonda
AU  - Hamel R
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA.
FAU - Maloney, Breanne
AU  - Maloney B
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA.
FAU - Stansfield, Daniele-Marisa
AU  - Stansfield DM
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA.
FAU - McGrath, Emily C
AU  - McGrath EC
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA.
FAU - Occhionero, Amanda
AU  - Occhionero A
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA.
FAU - Gearhart, Adam
AU  - Gearhart A
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA.
FAU - Caggana, Michele
AU  - Caggana M
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA.
FAU - Tavakoli, Norma P
AU  - Tavakoli NP
AD  - Division of Genetics, Wadsworth Center, New York State Department of Health, 
      Albany, NY, USA; Department of Biomedical Sciences, School of Public Health, 
      State University of New York, Albany, NY, USA.
LA  - eng
PT  - Journal Article
DEP - 20160312
PL  - United States
TA  - Mol Genet Metab Rep
JT  - Molecular genetics and metabolism reports
JID - 101624422
PMC - PMC4908061
OTO - NOTNLM
OT  - 17alpha-Hydroxyprogesterone
OT  - 21-Hydroxylase deficiency
OT  - Congenital adrenal hyperplasia
OT  - Newborn screening
EDAT- 2016/06/23 06:00
MHDA- 2016/06/23 06:01
PMCR- 2016/03/12
CRDT- 2016/06/23 06:00
PHST- 2016/02/09 00:00 [received]
PHST- 2016/02/19 00:00 [revised]
PHST- 2016/02/20 00:00 [accepted]
PHST- 2016/06/23 06:00 [entrez]
PHST- 2016/06/23 06:00 [pubmed]
PHST- 2016/06/23 06:01 [medline]
PHST- 2016/03/12 00:00 [pmc-release]
AID - S2214-4269(16)30010-6 [pii]
AID - 10.1016/j.ymgmr.2016.02.005 [doi]
PST - epublish
SO  - Mol Genet Metab Rep. 2016 Mar 12;7:1-7. doi: 10.1016/j.ymgmr.2016.02.005. 
      eCollection 2016 Jun.