Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective

Neonatal bloodspot screening (NBS) aims to detect treatable disorders in newborns. The number of conditions included in the screening is expanding through technological and therapeutic developments, which can result in health gain for more newborns. NBS expansion, however, also poses healthcare, ethical and societal challenges. This qualitative...

Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study

Carrier screening for hemoglobinopathies (HbPs; sickle cell disease and thalassemia) aims to facilitate autonomous reproductive decision-making. In the absence of a Dutch national HbP carrier screening program, some primary care midwives offer screening on an ad hoc basis. This qualitative descriptive study explores how pregnant women perceive...

Translational research in genomics of Alzheimer's disease: A review of current practice and future perspectives

Alzheimer's disease (AD) is the most prevalent form of dementia and the number of cases is expected to increase exponentially worldwide. Three highly penetrant genes (AβPP, PSEN1, and PSEN2) explain only a small number of AD cases with a Mendelian transmission pattern. Many genes have been analyzed for association with non-Mendelian AD, but the...

De geschiedenis van de registratie en frequentiebewaking van aangeboren afwijkingen in Nederland [The history of registration and monitoring of congenital anomalies in the Netherlands]

In the early sixties worldwide thousands of infants were born with serious limb reduction defects caused by maternal use of thalidomide (Softenon1) during pregnancy. After this epidemic many countries started birth defect registries to make monitoring possible. In the Northern Netherlands in 1981 a Dutch center of the European Registration of...

Screening bij zwangerschap en geboorte: mogelijkheden genoeg, maar de praktijk is nog niet zover

Screening bij zwangerschap en geboorte: Mogelijkheden genoeg, maar de praktijk is nog niet zover

Technisch gezien kunnen de screeningsmogelijkheden rond zwangerschap en geboorte enorm worden uitgebreid. Het is echter de vraag of dat ook wenselijk is. De overwegingen in het besluitvormingsproces kunnen gevolgen hebben voor de deelnemers, de medische professionals en de organisatie van de zorg.

Influence of educational level on determinants of folic acid use

In The Netherlands, periconceptional folic acid use to prevent neural tube defects was promoted through a national 'Folic Acid Campaign'. In two regions, a local campaign supplemented the national campaign to increase the chances of reaching women with low socio-economic status (SES). A framework of outcome criteria, defined as awareness...

The Dutch Folic Acid Campaign: Have the goals been achieved?

Periconceptional folic acid use considerably reduces the risk of neural tube defects. The aim of this study was to measure the effect of the national and the local 'Folic Acid Campaign' on periconceptional folic acid use. Before (1995 survey) and 1 year after the campaign (1996 survey), the awareness and use of folic acid was measured among...

Effect of mass media campaign to reduce socioeconomic differences in women's awareness and behaviour concerning use of folic acid: Cross sectional study

Chemicals/CAS: Folic Acid, 59-30-3

Foliumzuurgwbruik door zwangere vrouwen in Nederland

Eind 1995 startte een nationale foliumzuurcampagne. Zwangeren en vrouwen met zwangerschapswens kregen het advies extra foliumzuur te gebruiken om zo de kans op en kind met en neuralebuisdefect te verminderen. Als het advies gedurende de gehele aanbevolen periode opgevolgd wordt, kan die kans met zestig tot zeventig procent worden verminderd....

Increasing awareness of and behaviour towards periconceptional folic acid consumption in The Netherlands from 1994 to 1995

Objective: In November 1993, Dutch health authorities advised that women planning a pregnancy should take folic acid in the periconceptional period to reduce the risk of fetal neural tube defects. In the autumn of 1995 a national campaign was organized to inform women and health care professionals in a systematic way. Methods: We assessed the...

Opzetten van een landelijk bestand van kinderen met congenitale afwijkingen uit de Landelijke Verloskunde Registratie en de Landelijke Neonatologie registratie [Registration of congenital anomalies in the national perinatal registries]

Objective. To determine if the birth prevalence data on congenital malformations in the national perinatal registries, the Landelijke Verloskunde Registratie (LVR) (National Obstetrical Registry) and the Landelijke Neonatologie Registratie (LNR) (National Neonatological Registry), can be combined into one nationwide database, and if so to...

Periconceptional folic acid in the Netherlands in 1995. Socioeconomic differences

Prevalentie, klinisch beeld en prognose van neuralebuisdefecten in Nederland [Prevalence, presentation and prognosis of neural tube defects in the Netherlands]

Objective. To determine the live birth prevalence of neural tube defects (NTD) in the Netherlands and describe the clinical picture. Design. Descriptive. Setting. TNO Prevention and Health, Leiden, the Netherlands. Method. Data collected through active surveillance of NTD on a monthly basis by paediatricians throughout the country. Results. From...

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Prevalence of congenital heart disease in patients with phenylketonuria

Chemicals/CAS: phenylalanine, 3617-44-5, 63-91-2.