Neonatale screening voor hemoglobinopathie

Giordano, Piero C.; Poland, Dennis C W; Harteveld, Kees L.

doi:10.1007/s12445-011-0166-0

Cited by 2 publications

(3 citation statements)

References 2 publications

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“…Carrier screening prior to conception (preconception screening) or early antenatal screening are alternatives to neonatal screening. It provides options for prenatal- and antenatal diagnostics and allows carrier couples to make informed reproductive choices, reducing the risk of being confronted with a child with HBP unexpectedly [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study

et al. 2022

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As in most Northern European countries, the prevalence of hemoglobinopathies in The Netherlands is increasing due to migration. Although hemoglobinopathies are severe chronic diseases with few treatment options, timely detection of carriers allows at-risk couples to make informed reproductive choices such as pre-implantation diagnosis, prenatal diagnosis or termination of affected pregnancies. Using a quantitative design, we evaluated the prevalence of hemoglobinopathies in The Hague region, The Netherlands. Patient and carrier registries from hospital, laboratory and general practitioners allowed this quantitative analysis. The highest prevalence of hemoglobinopathies was seen in immigrant neighborhoods, and a large gap was noted between estimated carrier prevalence and the actual registration of carriers in electronic patient records. Carrier prevalence was estimated to be 13,704; however, the ELAN database contains only 1542 cases with ICPC codes for sickle cell disease or thalassemia. Although more research is needed to define the requirements of the healthcare system to address this challenge, this study clearly shows the gap between estimated carrier prevalence and registration and thereby the pressing need for action.

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Section: Introductionmentioning

confidence: 99%

Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study

et al. 2022

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“…Antenatal screening or screening before conception, could be supplementary to the current neonatal screening. This will allow couples at-risk to make an informed reproductive choice for prenatal diagnostics, pre-implantation diagnostics or otherwise and prevent being unexpectedly confronted with a child with a severe disease [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

“…The UK has a national antenatal screening program to test all pregnant women coming from high prevalence regions in early pregnancy [ 8 ]. In past studies, HBP screening in the Netherlands was predominantly regional, and involved screening pregnant women early in pregnancy in collaboration with midwives [ 7 , 9 ]. In 2005, attitudes to antenatal HBP screening were evaluated among the three largest immigrant groups in the Netherlands, and 68% to 77% of participants expressed an interest in carrier testing.…”

Section: Introductionmentioning

confidence: 99%

Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners

et al. 2022

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The prevalence of hemoglobinopathies in The Netherlands is increasing due to migration. Hemoglobinopathies are severe hereditary diseases. An informed reproductive choice by at-risk couples, such as pre-implantation diagnosis or termination of affected pregnancies, can be made if carriers are detected prior to conception. Using a qualitative design, the needs and wishes of patients, carriers and general practitioners were evaluated regarding carrier detection of hemoglobinopathies in primary care practice. 30 semi-structured interviews were established with 10 general practitioners, 10 patients and 10 carriers. The interviews were audio-recorded, transcribed verbatim and analysed using content analysis to identify recurring themes. Three themes were generated regarding carrier detection of hemoglobinopathies: (1) a need for more information about hemoglobinopathy, (2) a need for indications when to refer for analysis (carrier diagnostics) and (3) insight concerning organization and roles in care for hemoglobinopathy carriers and patients. These themes reflected a need to increase awareness of hemoglobinopathy, improve competences among general practitioners through better education and improvement of communication with patients and their unidentified family members. This study shows the scope of the problem and the critical need for action to improve informed reproductive decision making for the at-risk population.

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Neonatale screening voor hemoglobinopathie

Cited by 2 publications

References 2 publications

Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study

Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study

Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners

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