The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients

Lajić, Svetlana; Karlsson, Leif; Zetterström, Rolf; Falhammar, Henrik; Nordenström, Anna

doi:10.3390/ijns6030068

Cited by 16 publications

(18 citation statements)

References 55 publications

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“…In the study by El-Maouche et al, the nontraumatic fracture rate was higher in classic than in NC CAH ( 18 ), which resembles our findings. Why patients with the I2 splice genotype did not have an increased fracture rate is unclear, but since many of them were born before the introduction of neonatal screening in Sweden 1986 ( 45 ), some were probably not diagnosed in the neonatal period and could have been exposed to a prolong period of androgen excess. However, although some patients with I172N genotype were probably diagnosed late, they still had increased fracture rate.…”

Section: Discussionmentioning

confidence: 99%

Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study

Falhammar

Frisén

Hirschberg

et al. 2021

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Low bone mineral density has been reported in individuals with congenital adrenal hyperplasia (CAH), but the prevalence of fractures is unclear. Objective To study the prevalence of fractures in CAH. Design, Setting, and Participants: Patients with CAH (n=714, all 21-hydroxylase deficiency) were compared with controls matched for sex and year and place of birth (n=71,400). Data were derived by linking National Population-Based Registers. . Main Outcome Measures Number and type of fractures. Results Mean age was 29.8±18.4 years. Individuals with CAH had more fractures compared to controls (23.5% vs. 16.1%, OR 1.61, 95%CI 1.35-1.91), and this was found in both sexes (females: 19.6% vs. 13.3%, OR 1.57, 95%CI 1.23-2.02; males: 28.7% vs. 19.6%, OR 1.65, 95%CI 1.29-2.12). Fractures were significantly increased in patients born before the introduction of neonatal screening but not in those born afterwards. Any major fracture associated with osteoporosis (spine, forearm, hip or shoulder) was increased in all individuals with CAH (9.8% vs. 7.5%, OR 1.34, 95%CI 1.05-1.72). The highest prevalence of fractures was seen in SV phenotype and I172N genotype while non-classic phenotype and I2 splice genotype did not show increased prevalence. A transport accident as a car occupant and fall on the same level were more common in patients with CAH, both sexes, than in controls. Conclusions Patients with CAH had an increased prevalence of both any fracture and fractures associated with osteoporosis (both sexes) but not for patient neonatally screened. We conclude that fracture risk assessment and glucocorticoid optimization should be performed regularly.

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Section: Discussionmentioning

confidence: 99%

Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study

Falhammar

Frisén

Hirschberg

et al. 2021

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…After the confirmatory testing, it is recommended to perform a follow-up with clinical evaluation and to start the appropriate treatment as indicated by the therapeutic guidelines. The interaction between the laboratory group and the clinical follow-up team is essential for the achievement of better outcomes [ 48 ].…”

Section: Discussionmentioning

confidence: 99%

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

Kubaski

Sousa

Amorim

et al. 2020

IJNS

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Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irreversible manifestations and even premature death. Mucopolysaccharidoses (MPS) are lysosomal storage disorders than can benefit from an early diagnosis, and thus are being recommended for newborn screening. They are multisystemic progressive disorders, with treatment options already available for several MPS types. MPS I was the first MPS disorder enrolled in the newborn screening (NBS) panel in the USA and a few other countries, and other MPS types are expected to be added. Very few studies about NBS for MPS in Latin America have been published so far. In this review, we report the results of pilot studies performed in Mexico and Brazil using different methodologies: tandem mass spectrometry, molecular analysis, digital microfluidics, and fluorimetry. These experiences are important to report and discuss, as we expect to have several MPS types added to NBS panels shortly. This addition will enable timely diagnosis of MPS, avoiding the long diagnostic odyssey that is part of the current natural history of this group of diseases, and leading to a better outcome for the affected patients.

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“…Earlier studies reported CAH screening would be either unlikely to be cost-effective or cost-effective only if a single test is performed [19,38]. While recent studies in Canada, Brazil and Sweden concluded that NBS screening for CAH enables to reduce morbidity and mortality [39,40] as well as costs associated with adverse outcomes, transportation, and hospitalization length [41]. The long-term health benefits of NBS for CAH are unknown and should be addressed in future studies.…”

Section: Discussionmentioning

confidence: 99%

Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia

et al. 2021

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Background and Objectives: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programs are not always sensitive and effective enough to detect the disease. We aimed to evaluate impact of the national NBS on the clinical presentation of patients with CAH in Lithuania. Materials and Methods: A retrospective study was performed on data of 88 patients with CAH from 1989 to 2020. Patients with confirmed CAH were divided into two groups: (1) 75 patients diagnosed before NBS: 52 cases with salt-wasting (SW), 21 with simple virilising (SV) and two with non-classical (NC) form; (2) 13 patients diagnosed with NBS: 12 cases with SW and 1 case with SV form. For the evaluation of NBS effectiveness, data of only male infants with salt-wasting CAH were analysed (n = 36, 25 unscreened and nine screened). Data on gestational age, birth weight, weight, symptoms, and laboratory tests (serum potassium and sodium levels) on the day of diagnosis, were analysed. Results: A total of 158,486 neonates were screened for CAH from 2015 to 2020 in Lithuania and CAH was confirmed in 13 patients (12 SW, one–SV form), no false negative cases were found. The sensitivity and specificity of NBS program for classical CAH forms were 100%; however, positive predictive value was only 4%. There were no significant differences between unscreened and screened male infant groups in terms of age at diagnosis, serum potassium, and serum sodium levels. Significant differences were found in weight at diagnosis between the groups (−1.67 ± 1.12 SDS versus 0.046 ± 1.01 SDS of unscreened and screened patients respectively, p = 0.001). Conclusions: The sensitivity and specificity of NBS for CAH program were 100%, but positive predictive value—only 4%. Weight loss was significantly lower and the weight SDS at diagnosis was significantly higher in the group of screened patients.

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The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients

Cited by 16 publications

References 55 publications

Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study

Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia

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