Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention study

Abstract Introduction The Danish national haemoglobinopathy screening programme offers screening to at‐risk pregnant women. Despite efforts to increase awareness of the screening programme, most women in the target population remain unscreened. In contrast, > 90% of pregnant women in Denmark atte...

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Main Authors: Esther Agnethe Ejskjær Gravholt, Finn Stener Jørgensen, Charlotte Holm, Jesper Petersen, Amina Nardo‐Marino, Mathis Mottelson, Andreas Glenthøj
Format: Article
Language:English
Published: Wiley 2025-06-01
Series:eJHaem
Online Access:https://doi.org/10.1002/jha2.980
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author Esther Agnethe Ejskjær Gravholt
Finn Stener Jørgensen
Charlotte Holm
Jesper Petersen
Amina Nardo‐Marino
Mathis Mottelson
Andreas Glenthøj
author_facet Esther Agnethe Ejskjær Gravholt
Finn Stener Jørgensen
Charlotte Holm
Jesper Petersen
Amina Nardo‐Marino
Mathis Mottelson
Andreas Glenthøj
author_sort Esther Agnethe Ejskjær Gravholt
collection DOAJ
description Abstract Introduction The Danish national haemoglobinopathy screening programme offers screening to at‐risk pregnant women. Despite efforts to increase awareness of the screening programme, most women in the target population remain unscreened. In contrast, > 90% of pregnant women in Denmark attend a screening for chromosomal abnormalities by combined first‐trimester screening (cFTS). Methods This study aimed to improve adherence to the Danish national haemoglobinopathy screening programme by offering screening to at‐risk unscreened pregnant women in relation to their cFTS. Results During a 27‐week intervention period, 3254 women attended cFTS at Copenhagen University Hospital—Amager Hvidovre Hospital. Of these, 938 women (28.8%) were identified as at risk of carrying haemoglobinopathy variants based on their ethnic origins. Of the 938 women at risk, 539 (57.5%) were unscreened prior to their cFTS and were targeted for the intervention. These women were contacted with an offer of haemoglobinopathy screening. Subsequently, 253/539 (46.9%) of the at‐risk unscreened women were tested for haemoglobinopathies, of these 4/253 (1.6%) carried haemoglobinopathy variants necessitating partner screening. No partners carried haemoglobinopathy variants necessitating testing of the fetus. Conclusion The study increased the proportion of at‐risk pregnant women tested for haemoglobinopathies from 42.5% to 69.5% and made haemoglobinopathy screening more readily available to women attending cFTS.
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spelling doaj-art-8457923e1ad140da876cc85eaf8d5cbc2025-08-20T03:23:08ZengWileyeJHaem2688-61462025-06-0163n/an/a10.1002/jha2.980Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention studyEsther Agnethe Ejskjær Gravholt0Finn Stener Jørgensen1Charlotte Holm2Jesper Petersen3Amina Nardo‐Marino4Mathis Mottelson5Andreas Glenthøj6Department of Haematology Danish Red Blood Cell Centre Copenhagen University Hospital – Rigshospitalet Copenhagen DenmarkDepartment of Obstetrics and Gynaecology Fetal Medicine Unit Copenhagen University Hospital – Amager Hvidovre Hospital Hvidovre DenmarkDepartment of Clinical Medicine Faculty of Health and Medical Sciences University of Copenhagen Copenhagen DenmarkDepartment of Haematology Danish Red Blood Cell Centre Copenhagen University Hospital – Rigshospitalet Copenhagen DenmarkDepartment of Haematology Danish Red Blood Cell Centre Copenhagen University Hospital – Rigshospitalet Copenhagen DenmarkDepartment of Haematology Danish Red Blood Cell Centre Copenhagen University Hospital – Rigshospitalet Copenhagen DenmarkDepartment of Haematology Danish Red Blood Cell Centre Copenhagen University Hospital – Rigshospitalet Copenhagen DenmarkAbstract Introduction The Danish national haemoglobinopathy screening programme offers screening to at‐risk pregnant women. Despite efforts to increase awareness of the screening programme, most women in the target population remain unscreened. In contrast, > 90% of pregnant women in Denmark attend a screening for chromosomal abnormalities by combined first‐trimester screening (cFTS). Methods This study aimed to improve adherence to the Danish national haemoglobinopathy screening programme by offering screening to at‐risk unscreened pregnant women in relation to their cFTS. Results During a 27‐week intervention period, 3254 women attended cFTS at Copenhagen University Hospital—Amager Hvidovre Hospital. Of these, 938 women (28.8%) were identified as at risk of carrying haemoglobinopathy variants based on their ethnic origins. Of the 938 women at risk, 539 (57.5%) were unscreened prior to their cFTS and were targeted for the intervention. These women were contacted with an offer of haemoglobinopathy screening. Subsequently, 253/539 (46.9%) of the at‐risk unscreened women were tested for haemoglobinopathies, of these 4/253 (1.6%) carried haemoglobinopathy variants necessitating partner screening. No partners carried haemoglobinopathy variants necessitating testing of the fetus. Conclusion The study increased the proportion of at‐risk pregnant women tested for haemoglobinopathies from 42.5% to 69.5% and made haemoglobinopathy screening more readily available to women attending cFTS.https://doi.org/10.1002/jha2.980
spellingShingle Esther Agnethe Ejskjær Gravholt
Finn Stener Jørgensen
Charlotte Holm
Jesper Petersen
Amina Nardo‐Marino
Mathis Mottelson
Andreas Glenthøj
Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention study
eJHaem
title Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention study
title_full Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention study
title_fullStr Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention study
title_full_unstemmed Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention study
title_short Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention study
title_sort optimisation of the danish national haemoglobinopathy screening programme a prospective intervention study
url https://doi.org/10.1002/jha2.980
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