Cited by 335Prenatal Screening and DiagnosticsDown syndrome and intellectual disability researchCongenital Anomalies and Fetal Surgery

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Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down’s syndrome

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Boyd, PA, DeVigan, C, Khoshnood, B, Loane, M, Garne, E, Dolk, H, EUROCAT working group·2008·BJOG: An International Journal of Obstetrics & Gynaecology

DOI 10.1111/j.1471-0528.2008.01700.xPMC PMC2344123

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Abstract

Objective To ‘map’ the current (2004) state of prenatal screening in Europe. Design (i) Survey of country policies and (ii) analysis of data from EUROCAT (European Surveillance of Congenital Anomalies) population‐based congenital anomaly registers. Setting Europe. Population Survey of prenatal screening policies in 18 countries and 1.13 million births in 12 countries in 2002–04. Methods (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down’s syndrome and neural tube defects (NTDs) using the EUROCAT database. Main outcome measures Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down’s syndrome and NTD. Results Ten of the 18 countries had a national country‐wide policy for Down’s syndrome screening and 14/18 for structural anomaly scanning. Sixty‐eight percent of Down’s syndrome cases (range 0–95%) were detected prenatally, of which 88% resulted in termination of pregnancy. Eighty‐eight percent (range 25–94%) of cases of NTD were prenatally detected, of which 88% resulted in termination. Countries with a first‐trimester screening policy had the highest proportion of prenatally diagnosed Down’s syndrome cases. Countries with no official national Down’s syndrome screening or structural anomaly scan policy had the lowest proportion of prenatally diagnosed Down’s syndrome and NTD cases. Six of the 18 countries had a legal gestational age limit for TOPFA, and in two countries, termination of pregnancy was illegal at any gestation. Conclusions There are large differences in screening policies between countries in Europe. These, as well as organisational and cultural factors, are associated with wide country variation in prenatal detection rates for Down’s syndrome and NTD.

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Authors: Boyd, P., DeVigan, C., Khoshnood, B., Loane, M., Garne, E., Dolk, H., & EUROCAT working group
Affiliations: University of Oxford (GB)
Inserm (FR)
University of Ulster (GB)
Kolding Hospital (DK)
Corresponding author: Boyd, PA
ORCID: Khoshnood, B
Loane, M
Garne, E
Dolk, H
Venue: BJOG: An International Journal of Obstetrics & Gynaecology
Publisher: Wiley
Published: 2008-04-09
Volume: 115
Issue: 6
Pages: 689-696
ISSN: 0306-5456 (ISSN-L)
1470-0328
1471-0528
DOI: 10.1111/j.1471-0528.2008.01700.x
PMC: PMC2344123
OpenAlex: W2015487852
Cited by: 335
References: 19
Citations by year: 2026: 6 · 2025: 10 · 2024: 9 · 2023: 15 · 2022: 17 · 2021: 16 · 2020: 20 · 2019: 16 · 2018: 18 · 2017: 19 · 2016: 16 · 2015: 23 · 2014: 31 · 2013: 31 · 2012: 25
FWCI: 18.64
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: BJOG An International Journal of Obstetrics & Gynaecology (publishedVersion)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
SERVAL (Université de Lausanne) (publishedVersion, other-oa)
IRIS (submittedVersion)
University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, cc-by)
DigitalGeorgetown (Georgetown University Library) (submittedVersion)
University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion)
Funders: National Institute for Health and Care Research
European Commission
Topics: Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
Keywords: Down syndrome, neural tube defects, prenatal diagnosis, first-trimester screening, gestational age limits, EUROCAT, country variation, Europe
MeSH terms: Abortion, Induced, Down Syndrome, Europe, Female, Genetic Testing, Gestational Age, Health Policy, Humans, Neural Tube Defects, Pregnancy, Pregnancy Trimesters, Prenatal Diagnosis, Surveys and Questionnaires, Ultrasonography, Prenatal

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Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down’s syndrome

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