PMID- 31603856
OWN - NLM
STAT- MEDLINE
DCOM- 20200417
LR  - 20200417
IS  - 2191-0251 (Electronic)
IS  - 0334-018X (Linking)
VI  - 32
IP  - 11
DP  - 2019 Nov 26
TI  - The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal 
      hyperplasia neonatal screening by GSP according to gestational age and age at 
      sampling.
PG  - 1253-1258
LID - 10.1515/jpem-2019-0140 [doi]
AB  - Background Congenital adrenal hyperplasia (CAH) screening is facing great 
      challenges because of a high false-positive rate and a low positive predictive 
      value (PPV). We established and optimized 17-hydroxyprogesterone (17-OHP) cut-off 
      values for CAH neonatal screening using a genetic screening processor (GSP) 
      according to gestational age (GA), birth weight (BW) and age at sampling. Methods 
      The 17-OHP concentrations in dried blood spots were measured by time-resolved 
      immunofluorescence and were grouped in terms of GA, BW and age at sampling for 
      48,592 newborns. The 99.5th percentile was used to set an initial cut-off value 
      as a reference. Results Significant differences in 17-OHP concentrations were 
      observed among newborns with different GAs and BWs. A significant difference was 
      observed among different sampling age groups. Finally, we defined new multitier 
      cut-off concentrations based on GA and age at sampling. Application of the new 
      cut-off values resulted in a 30% reduction of the positive rate and a 40% 
      increase of the PPV. Conclusions GA, BW and sampling age time influenced the 
      concentrations of 17-OHP. The efficiency of congenital adrenal hyperplasia 
      screening can be substantially improved by adjusting the multitier cut-off value 
      according to GA and age at sampling.
FAU - Jiang, Xiang
AU  - Jiang X
AD  - Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical 
      Center, Guangzhou Medical University, Guangzhou, P.R. China.
FAU - Tang, Fang
AU  - Tang F
AD  - Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical 
      Center, Guangzhou Medical University, Guangzhou, P.R. China.
FAU - Feng, Yi
AU  - Feng Y
AD  - Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical 
      Center, Guangzhou Medical University, Guangzhou, P.R. China.
FAU - Li, Bei
AU  - Li B
AD  - Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical 
      Center, Guangzhou Medical University, Guangzhou, P.R. China.
FAU - Jia, Xuefang
AU  - Jia X
AD  - Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical 
      Center, Guangzhou Medical University, Guangzhou, P.R. China.
FAU - Tang, Chengfang
AU  - Tang C
AD  - Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical 
      Center, Guangzhou Medical University, Guangzhou, P.R. China.
FAU - Liu, Sichi
AU  - Liu S
AD  - Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical 
      Center, Guangzhou Medical University, Guangzhou, P.R. China.
FAU - Huang, Yonglan
AU  - Huang Y
AD  - Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical 
      Center, Guangzhou Medical University, Guangzhou 510180, Guangdong Province,P.R. 
      China, Phone/Fax: +86-20-81330406.
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - J Pediatr Endocrinol Metab
JT  - Journal of pediatric endocrinology & metabolism : JPEM
JID - 9508900
RN  - 0 (Biomarkers)
RN  - 68-96-2 (17-alpha-Hydroxyprogesterone)
SB  - IM
MH  - 17-alpha-Hydroxyprogesterone/*blood
MH  - Adrenal Hyperplasia, Congenital/blood/*diagnosis/epidemiology
MH  - Age Factors
MH  - Aged
MH  - Biomarkers/*blood
MH  - False Positive Reactions
MH  - Female
MH  - Follow-Up Studies
MH  - Genetic Testing/*standards
MH  - Gestational Age
MH  - Humans
MH  - Infant, Newborn
MH  - Neonatal Screening/*methods/*standards
MH  - Predictive Value of Tests
OTO - NOTNLM
OT  - age at sampling
OT  - birth weight
OT  - congenital adrenal hyperplasia
OT  - gestational age
OT  - neonatal 17-hydroxyprogesterone
OT  - neonatal screening
EDAT- 2019/10/12 06:00
MHDA- 2020/04/18 06:00
CRDT- 2019/10/12 06:00
PHST- 2019/03/25 00:00 [received]
PHST- 2019/08/12 00:00 [accepted]
PHST- 2019/10/12 06:00 [pubmed]
PHST- 2020/04/18 06:00 [medline]
PHST- 2019/10/12 06:00 [entrez]
AID - /j/jpem.ahead-of-print/jpem-2019-0140/jpem-2019-0140.xml [pii]
AID - 10.1515/jpem-2019-0140 [doi]
PST - ppublish
SO  - J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1253-1258. doi: 
      10.1515/jpem-2019-0140.