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Comment & Response |

Does Newborn Screening Have 100% Sensitivity to Detect Salt Wasting Congenital Adrenal Hyperplasia?—Reply

Sebastian Gidlöf, MD, PhD1,2; Anna Nordenström, MD, PhD1,3,4
[+] Author Affiliations
1Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
2Department of Obstetrics and Gynecology, Karolinska University Hospital Huddinge, Stockholm, Sweden
3Center for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Stockholm, Sweden
4Department of Pediatric Endocrinology, Astrid Lindgren Children’s Hospital, Karolinska University Hospital Solna, Stockholm, Sweden
JAMA Pediatr. 2014;168(10):971. doi:10.1001/jamapediatrics.2014.1508.
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In Reply We thank Drs Grosse and Sarafoglou for their comments on our article reporting the results from 26 years of screening for congenital adrenal hyperplasia in Sweden. They are concerned about the infants who were detected with elevated levels of 17α-hydroxyprogesterone in the first newborn screening sample and died before any confirmatory testing or investigations were performed.

We would like to point out that all these deceased cases did in fact have elevated levels of 17α-hydroxyprogesterone, meaning they were positive in the screening and results were conveyed to the local pediatrician. The elevated level can be assumed to point the diagnostic investigations in the direction of congenital adrenal hyperplasia. A confirmed postmortem diagnosis would have been reported back to the laboratory.


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October 1, 2014
Scott D. Grosse, PhD; Kyriakie Sarafoglou, MD
1National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
2Division of Endocrinology, Department of Pediatrics, University of Minnesota Amplatz Children’s Hospital, Minneapolis
JAMA Pediatr. 2014;168(10):970-971. doi:10.1001/jamapediatrics.2014.1505.
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