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Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study.

https://arctichealth.org/en/permalink/ahliterature104508
Source
JAMA Pediatr. 2014 Jun;168(6):567-74
Publication Type
Article
Date
Jun-2014
Author
Sebastian Gidlöf
Anna Wedell
Claes Guthenberg
Ulrika von Döbeln
Anna Nordenström
Author Affiliation
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden2Department of Obstetrics and Gynecology, Karolinska University Hospital, Stockholm, Sweden.
Source
JAMA Pediatr. 2014 Jun;168(6):567-74
Date
Jun-2014
Language
English
Publication Type
Article
Keywords
Adrenal Hyperplasia, Congenital - diagnosis - epidemiology - genetics
Female
Genotype
Humans
Infant
Infant, Newborn
Infant, Premature
Longitudinal Studies
Male
Neonatal Screening - methods
Prospective Studies
Sensitivity and specificity
Steroid 21-Hydroxylase - genetics
Sweden
Abstract
Recent reports have questioned the rationale for neonatal screening for congenital adrenal hyperplasia (CAH) owing to low sensitivity in salt-wasting forms and a high rate of recall (ie, a positive finding resulting in a visit to a pediatrician and a second test) in preterm infants.
To determine the efficiency of the neonatal screening program for CAH in Sweden over time.
Longitudinal prospective population-based study in Sweden. We assessed neonatal screening for CAH from January 1, 1986, through December 31, 2011, when 2?737?932 infants (99.8%) underwent testing. The CYP21A2 genotype was investigated in 219 cases with true-positive findings (94.8%). We investigated the screening outcomes for 231 patients who had true-positive findings, 43 with late diagnosis, and 1497 infants with false-positive findings.
Sensitivity of the screening for salt-wasting CAH. The most important secondary outcome measures were the positive predictive values and recall rates for full-term and preterm infants and sensitivity for milder forms of CAH.
A total of 143 patients with salt-wasting CAH were identified; none were missed. The sensitivity was lower for milder forms of the disorder (P?=?.04), including 79.7% for simple virilizing forms and 32.4% for nonclassic forms. The positive predictive value was higher in full-term (25.1%) than preterm (1.4%) infants and correlated with gestational age (r?=?0.98; P?
Notes
Comment In: JAMA Pediatr. 2014 Jun;168(6):515-624733500
PubMed ID
24733564 View in PubMed
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One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.

https://arctichealth.org/en/permalink/ahliterature258944
Source
Lancet Diabetes Endocrinol. 2013 Sep;1(1):35-42
Publication Type
Article
Date
Sep-2013
Author
Sebastian Gidlöf
Henrik Falhammar
Astrid Thilén
Ulrika von Döbeln
Martin Ritzén
Anna Wedell
Anna Nordenström
Source
Lancet Diabetes Endocrinol. 2013 Sep;1(1):35-42
Date
Sep-2013
Language
English
Publication Type
Article
Keywords
Adolescent
Adrenal Hyperplasia, Congenital - epidemiology - genetics
Adult
Aged
Aged, 80 and over
Child
Child, Preschool
Cohort Studies
Female
Humans
Male
Middle Aged
Population Surveillance - methods
Retrospective Studies
Steroid 21-Hydroxylase - genetics
Sweden - epidemiology
Time Factors
Young Adult
Abstract
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency results in cortisol and aldosterone deficiency and is, in its most severe form, lethal. We aimed to assess the effect of historical medical improvements in the care of patients with this disorder over time and to assess the effects of neonatal screening in Sweden.
For this retrospective, population-based cohort study, we collected data for all known patients with congenital adrenal hyperplasia in Sweden between 1910 and 2011 [corrected]. Data sources included the registry at the Swedish national screening laboratory, patients identified via the Swedish neonatal screening programme, late-diagnosed patients reported to the laboratory, and patients who underwent genetic diagnostics or became known to us through clinical contacts. All known patients were included in a population-based cohort study of the distribution of clinical severity, genotype, sex, and the effect of nationwide neonatal screening.
We identified 606 patients with the disorder, born between 1915 and 2011. The CYP21A2 genotype (conferring deficiency of 21-hydroxylase) was known in 490 patients (81%). The female-to-male ratio was 1·25 in the whole cohort, but close to 1 in patients detected by the screening. We noted a sharp increase in the number of patients diagnosed in the 1960s and 1970s, and after the introduction of neonatal screening in 1986 the proportion of patients with the salt-wasting form of congenital adrenal hyperplasia increased in both sexes, from 114 (47%) of 242 individuals between 1950 and 1985 to 165 (57%) of 292 individuals between 1986 and 2011 (p=0·038). On average, five to ten children were missed every year before 1970. The non-classic form of the disorder was diagnosed more often in women than in men, which accounts for the female preponderance in our cohort.
Our findings suggest that, contrary to current belief, boys and girls with salt-wasting congenital adrenal hyperplasia were equally missed clinically. Neonatal screening improved detection of the salt-wasting form in girls as well as boys, saving lives in both sexes. The non-classic form was diagnosed more often in women than it was in men, leading to the female preponderance in this cohort.
The Swedish Research Council, the Centre of Gender Medicine at Karolinska Institutet, the Stockholm County Council, the Sällskapet Barnavård Foundation, the Stiftelsen Samariten Foundation, the Stiftelsen Frimurare Barnhuset Foundation, and the Novo Nordisk Foundation.
Notes
Comment In: Lancet Diabetes Endocrinol. 2013 Sep;1(1):4-524622253
Erratum In: Lancet Diabetes Endocrinol. 2013 Aug;1 Suppl 1:s22
PubMed ID
24622265 View in PubMed
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Vitamin D and the risk of preeclampsia--a nested case-control study.

https://arctichealth.org/en/permalink/ahliterature266657
Source
Acta Obstet Gynecol Scand. 2015 Aug;94(8):904-8
Publication Type
Article
Date
Aug-2015
Author
Sebastian Gidlöf
Aldo T Silva
Sven Gustafsson
Pelle G Lindqvist
Source
Acta Obstet Gynecol Scand. 2015 Aug;94(8):904-8
Date
Aug-2015
Language
English
Publication Type
Article
Keywords
Adult
Case-Control Studies
Cohort Studies
Female
Humans
Pre-Eclampsia - blood - etiology
Pregnancy
Pregnancy Trimester, First
Risk factors
Sweden
Vitamin D - blood
Vitamin D Deficiency - complications
Abstract
We aimed to determine the relation between vitamin D deficiency in early pregnancy and preeclampsia. In a nested case-control study of 2496 pregnant women, we identified 39 women who developed preeclampsia and 120 non-preeclamptic controls. Blood was sampled in 12th gestational week and analyzed for serum vitamin D. Vitamin D levels were similar in women who developed preeclampsia, 52.2 ± 20.5 nmol/L, and controls, 48.6 ± 20.5 nmol/L, p = 0.3. In addition, vitamin D deficiency (
PubMed ID
25884254 View in PubMed
Less detail