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Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
- Source :
- International Journal of Neonatal Screening, Vol 6, Iss 71, p 71 (2020), International Journal of Neonatal Screening, Volume 6, Issue 3
- Publication Year :
- 2020
- Publisher :
- MDPI AG, 2020.
-
Abstract
- Congenital adrenal hyperplasia (CAH) was the fourth disorder added to the national Swedish neonatal screening program in 1986, and approximately 115,000 newborns are screened annually. Dried blood spot (DBS) screening with measurement of 17-hydroxyprogesterone (17OHP) is also offered to older children moving to Sweden from countries lacking a national DBS screening program. Here, we report an update on the CAH screening from January 2011 until December 2019. Results: During the study period, 1,030,409 newborns and 34,713 older children were screened. In total, 87 newborns were verified to have CAH, which gives an overall positive predictive value (PPV) of 11% and 21% for term infants. Including the five missed CAH cases identified during this period, this gives an incidence of 1:11,200 of CAH in Sweden. Among the older children, 12 of 14 recalled cases were found to be true positive for CAH. All patients were genotyped as part of the clinical follow-up and 70% of the newborns had salt wasting (SW) CAH and 92% had classic CAH (i.e., SW and simple virilizing (SV) CAH). In the group of 12 older children, none had SW CAH and two had SV CAH. Conclusion: The incidence of classic CAH is relatively high in Sweden. Early genetic confirmation with CYP21A2 genotyping has been a valuable complement to the analysis of 17OHP to predict disease severity, make treatment decisions and for the follow-up and evaluation of the screening program.
- Subjects :
- 0301 basic medicine
Pediatrics
medicine.medical_specialty
congenital, hereditary, and neonatal diseases and abnormalities
endocrine system diseases
DBS
PPV
030209 endocrinology & metabolism
21-hydroxylase deficiency
030105 genetics & heredity
urologic and male genital diseases
Article
03 medical and health sciences
0302 clinical medicine
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Immunology and Microbiology (miscellaneous)
Disease severity
medicine
neonatal screening
congenital adrenal hyperplasia
Congenital adrenal hyperplasia
CYP21A2
Newborn screening
business.industry
Incidence (epidemiology)
CAH
lcsh:RJ1-570
Obstetrics and Gynecology
nutritional and metabolic diseases
lcsh:Pediatrics
medicine.disease
Predictive value
female genital diseases and pregnancy complications
Dried blood spot
Pediatrics, Perinatology and Child Health
positive predictive value
dried blood spots
business
Salt-wasting
Subjects
Details
- Language :
- English
- Volume :
- 6
- Issue :
- 71
- Database :
- OpenAIRE
- Journal :
- International Journal of Neonatal Screening
- Accession number :
- edsair.doi.dedup.....09166f490548401f9b77a897cb692d97