After the introduction into the national newborn screening program: who is receiving genetic counseling for hemoglobinopathies in the Netherlands?

OBJECTIVE: Universal newborn screening for hemoglobinopathies started in The Netherlands in 2007. Herewith severe conditions, such as sickle cell disease, ß-thalassemia major and hemoglobin H disease are putatively identified. Additionally, at least 1,800 carriers of hemoglobin variants associated with severe conditions in homozygote or compound heterozygote forms are identified yearly. Thus far, approximately 60 patients and 800 healthy sickle cell (HbS) carriers are reported each year among 180,000 newborns. Results are sent to the general practitioner with the recommendation to inform and diagnose both parents of the healthy carriers to exclude genetic risk, while patients and their parents are referred directly to a pediatrician. This study was performed to determine how often parents of identified carriers and affected newborns are seen in genetic centers for counseling. METHODS: In this retrospective study, we collected anonymized data from 7 of the 8 Dutch clinical genetic centers from January 1, 2007, until December 31, 2010. RESULTS: After an initial general increase in total counseling intakes, a decline was noticed in the third year, while the requests for prenatal diagnoses remained relatively stable. In 2007 and 2013, genetic counselors were asked for self-reported knowledge. They found hemoglobinopathy counseling complex, but by 2013, they indicated they had acquired sufficient knowledge on most hemoglobinopathy aspects. CONCLUSION: We could not observe a significant increase in genetic counseling for hemoglobinopathy after its introduction into newborn screening. Although 120 HbS carriers and 60 patients are expected to be born from couples at risk annually, only 33 at risk couples out of 540 families of diagnosed newborns received optimal care and information at a genetics center in 4 years.

Risk factors determining active urinary stone formation in patients with urolithiasis.

AIMS: The goal of clinical and metabolic evaluation of patients with urinary stones is to identify patients at high risk for recurrent stone formation and as such, to allow the practitioner to suggest preventive therapies. However, knowledge about risk factors for active stone formation in patients with urolithiasis is limited. This study was initiated to assess the significance of several metabolic and clinical parameters for the determination of the risk of active stone formation. METHODS: Study in 320 consecutive outpatients referred to our clinic for metabolic analysis. Clinical and metabolic parameters were determined by standardized procedures of questionnaires, serum biochemical profiles and urinalysis. RESULTS: In 21.5% of 284 patients with complete data stone formation was active. Hypercalciuria, hypocitraturia and urinary tract infections had odds ratios for active stone formation above 2.5, whereas the odds ratio of a positive family history was 0.38. Hyperuricosuria, hyperoxaluria and a low urinary volume did not influence the risk for active stone formation. CONCLUSION: The risk profile for active stone formation differs from the risk profile for urolithiasis in general. Metabolic evaluation and determination of those risk factors in patients with urolithiasis might improve the estimation of the risk of future stone formation.

[Diagnostic image (120). A neonate with fever and a rash. Gianotti-Crosti-syndrome]. / Diagnose in beeld (120). Een zuigeling met koorts en jeuk. Gianotti-Crosti-syndroom.

A 14-month-old boy presented with fever and an itching papulous skin eruption. Based on the clinical presentation and the histopathologic findings in the skin biopsy, the diagnosis of Gianotti-Crosti syndrome was made.