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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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PMID:  18410651     Owner:  NLM     Status:  MEDLINE    
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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.
Authors:
P A Boyd; C Devigan; B Khoshnood; M Loane; E Garne; H Dolk;
Publication Detail:
Type:  Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  BJOG : an international journal of obstetrics and gynaecology     Volume:  115     ISSN:  1471-0528     ISO Abbreviation:  BJOG     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-04-15     Completed Date:  2008-06-06     Revised Date:  2009-11-19    
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Nlm Unique ID:  100935741     Medline TA:  BJOG     Country:  England    
Other Details:
Languages:  eng     Pagination:  689-96     Citation Subset:  AIM; IM    
Affiliation:
National Perinatal Epidemiology Unit, University of Oxford, Oxford, UK. patricia.boyd@npeu.ox.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Abortion, Induced / statistics & numerical data*
Down Syndrome / diagnosis*,  drug therapy,  economics
Europe / epidemiology
Female
Genetic Testing / statistics & numerical data
Gestational Age
Health Policy*
Humans
Neural Tube Defects / diagnosis*
Pregnancy
Pregnancy Trimesters
Prenatal Diagnosis / statistics & numerical data*
Questionnaires
Ultrasonography, Prenatal / statistics & numerical data
Grant Support
ID/Acronym/Agency:
//Department of Health
Comments/Corrections

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Journal ID (nlm-ta): BJOG
Journal ID (publisher-id): bjo
ISSN: 1470-0328
ISSN: 1471-0528
Publisher: Blackwell Publishing Ltd
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? 2008 The Authors Journal compilation ? RCOG 2008 BJOG An International Journal of Obstetrics and Gynaecology
Accepted Day: 29 Month: 1 Year: 2008
Print publication date: Day: 01 Month: 5 Year: 2008
Volume: 115 Issue: 6
First Page: 689 Last Page: 696
ID: 2344123
PubMed Id: 18410651
DOI: 10.1111/j.1471-0528.2008.01700.x

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
PA Boyda
C DeViganb
B Khoshnoodb
M Loanec
E Garned
H Dolkc* Role: EUROCAT working group
aNational Perinatal Epidemiology Unit, University of OxfordOxford, UK
bINSERM, UMR S149, Epidemiological Research Unit on Perinatal and Women's Health, Universit? Pierre et Marie Curie-Paris6Paris, F75014, France
cFaculty of Life and Health Sciences, University of UlsterNewtonabbey, UK
dDepartment of Paediatrics, Kolding HospitalKolding, Denmark
Correspondence: Correspondence: Dr PA Boyd, National Perinatal Epidemiology Unit, University of Oxford, Old Road Campus, Oxford OX3 7LF, UK. Email patricia.boyd@npeu.ox.ac.uk
*Martin Haeusler (Austria), Yves Gillerot (Belgium), Ingeborg Barisic (Croatia), Marianne Christiansen (Denmark), Annukka Ritvanen (Finland), Annette Queisser-Luft (Germany), Bob McDonnell (Republic of Ireland), Eliza Calzolari (Italy), Miriam Gatt (Malta), Hermien de Walle (Netherlands), Lorentz Irgens (Norway), Anna Latos-Bielenska (Poland), Maria Feijoo (Portugal), Isabel Portillo (Spain), Birgitta Ollars (Sweden), Marie-Claude Addor (Switzerland) and David Tucker (Wales).
Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.

Introduction

Over the past 20 years, there have been major advances in the field of prenatal screening for Down's syndrome and in the efficacy of ultrasound scanning for the detection of fetal anomalies. Previously, older pregnant women were offered a diagnostic test (chorionic villus sampling [CVS] or amniocentesis, both associated with a risk for causing miscarriage) to detect Down's syndrome. Offering an amniocentesis to the oldest 5% of women identified about 30% of pregnancies with Down's syndrome.1 Today, a number of different noninvasive screening tests, which can be offered to women of any age, are available. These tests have different detection and false-positive rates.2?4

Improved resolution of ultrasound scans and greater expertise of operators have led to increased detection rates of fetal structural anomalies at earlier gestations. A variety of national policies or recommendations concerning prenatal screening and diagnostic testing for Down's syndrome and ultrasound screening for structural anomalies have been developed in different countries and areas within countries. One option for parents following prenatal diagnosis of fetal anomaly is termination of pregnancy. Termination of pregnancy is a controversial subject in many countries, and the laws governing it and legal gestation limits vary.

This study aims to ?map? the current (2004) state of prenatal screening and diagnosis in 18 countries in Europe that are members of EUROCAT and to relate them to prenatal detection and termination of pregnancy rates for specific anomalies.


Methods

EUROCAT (European Surveillance of Congenital Anomalies) is a network of population-based congenital anomaly registers in Europe.5 Full member registries of EUROCAT send case data on all congenital anomalies in their region, while associate member registries send aggregate data only based on pregnancy outcome and congenital anomaly subgroup. One of the objectives of EUROCAT (which surveys more than 1.5 million births per year, including information on termination of pregnancy for fetal anomaly [TOPFA] and covers 29% of the annual European birth population) is to assess the impact of prenatal screening.

A questionnaire was developed to explore current national policies or recommendations in place in the year 2004 concerning prenatal screening for congenital anomalies (Down's syndrome and structural anomalies) and the laws relating to TOPFA.6 As well as determining the existence, or not, of an official country-wide policy or recommendation, the questionnaire covered the tests actually offered throughout each country. The questionnaire was filled in by a EUROCAT register leader (clinician or public health professional) from each participating country. Information about each participating register is available on the EUROCAT website.5

Data on Down's syndrome and neural tube defects (NTDs) not associated with an abnormal karyotype were analysed. Full EUROCAT member registries with information on gestation at diagnosis known for at least 80% of cases, date of delivery between 2002 and 2004 and data on termination of pregnancy as well as on births were included in the data analysis. Multiple pregnancies were excluded. Data on total number of cases, prenatal detection and termination of pregnancy rates with median gestational age at prenatal diagnosis were extracted from the EUROCAT central database.5 We calculated the percentage of cases prenatally diagnosed and the percentage of pregnancies resulting in termination with 95% binomial exact confidence intervals.

For assessing the relation between the proportion of cases with a prenatal diagnosis and country policies, we used risk differences as the measure of association.7 For each policy category, the risk difference represented the difference between the overall proportion of cases with a prenatal diagnosis for countries with that policy and the overall proportion of cases with a prenatal diagnosis for countries with the policy category of reference. The same methodology was used to assess risk differences in TOPFA.

For Down's syndrome, the policy category of reference for prenatal screening was first or second-trimester screening for the whole country; for NTD, the policy category of reference was having a national policy in place for routine ultrasound. For both malformations, the policy category of reference for pregnancy termination was no legal gestational age limit. Reference categories were chosen so as to represent the most frequent policy category. We used binomial regression,8 weighted by the number of cases for each country, to estimate the risk differences with exact 95% CIs. Risk differences were considered statistically significant if the 95% CI did not include zero.


Results

Eighteen questionnaires covering 18 countries were completed. The countries, their EUROCAT registers, total number of births in each country, and the number of births in areas within the countries covered by the EUROCAT registers in 2002 are shown in Table 1.

Table 2 shows the legal gestational age limit (if any) for TOPFA in different countries.

Down's syndrome

Table 3 outlines which countries had national screening policies/recommendations for Down's syndrome in place in 2004, the maternal age ?cutoff? (if any) at which diagnostic testing by CVS or amniocentesis is usually offered and the type of screening offered (first trimester?nuchal scan alone or combined with biochemistry or second-trimester biochemical screening).

Table 4 shows the total number of cases of Down's syndrome (from the 12 full EUROCAT registries meeting the inclusion criteria), percentage prenatally diagnosed, median gestation at diagnosis and the number and percentage resulting in termination of pregnancy.

Of the 2308 cases of Down's syndrome, 68% (95% CI 66?70) were diagnosed prenatally at a median gestation of 17 weeks (range 10?40 weeks) and 1384 (60%, 95% CI 58?62) of all affected pregnancies resulted in termination of pregnancy. If Malta and Ireland (where TOPFA is illegal) are excluded from the analysis, of the 2154 cases of Down's syndrome, 73% (95% CI 71?74) of cases were prenatally diagnosed at a median gestation of 16 weeks (range 10?40 weeks) and 64% (95% CI 62?66) of all affected pregnancies resulted in TOPFA.

Those two countries (Denmark and Switzerland) with a primarily first-trimester screening policy had a proportion of prenatally diagnosed cases 13% (95% CI 5?21) higher than those countries with first- or second-trimester screening, the reference group; those with no policy but some screening (three countries: Croatia, Netherlands and Spain) had a proportion of prenatally diagnosed cases 11% (95% CI 5?17) lower than the reference group.

A Down's syndrome case was 28% (95% CI 19?38) less likely to result in termination of pregnancy in those countries with a legal limit for nonlethal anomalies than those with no legal gestational age limit for termination (the reference group). Down's syndrome cases from countries with a legal gestation limit for termination of less than or equal to 28 weeks were 5% (95% CI 1?9) more likely to result in termination compared with the reference group.

Ultrasound screening and detection of NTDs

Table 5 shows which countries had a national policy or recommendation in place in 2004 for routine prenatal ultrasound scanning and the number and gestation at which the scans are performed.

Fourteen of the 18 (78%) countries had a national policy or recommendation regarding fetal ultrasound scanning in place in 2004. These were for a specific anomaly scan at 18?23 weeks (Sweden 16?17 weeks, Finland 16?19 weeks) with, in most countries, additional scans at 10?14 and 28?32 weeks. There were no national scan policies in place in Ireland, Malta or Spain, but anomaly scans were routinely offered. Routine scans were not offered in the Netherlands.

Table 6 shows the total number and percentage of cases of NTD (from full EUROCAT registry areas in each of the 12 countries providing data), percentage prenatally diagnosed, median gestation at diagnosis and the number and percentage resulting in termination of pregnancy. Of the 725 NTD cases, 88% (95% CI 86?90) were detected prenatally at a median gestation of 17 weeks (range 8?40 weeks). Five hundred and sixty out of 725 (77%, 95% CI 74?80) of all affected cases were electively terminated. If Malta and Ireland (where TOPFA is illegal) are excluded from the analysis, of the 669 NTD cases, 91% (95% CI 88?93) were prenatally diagnosed at a median gestation of 17 weeks (range 8?40 weeks) and 84% (95% CI 81?86) of all affected pregnancies resulted in TOPFA.

Those three countries (Ireland, Malta and Spain) with no national ultrasound policy in place but where routine scans were carried out had a proportion of prenatally diagnosed NTD cases 17% (95% CI 9?25) lower than those countries with a country-wide policy, the reference group. The one country (Netherlands) with no policy and no routine scans carried out had a proportion of prenatally diagnosed cases 14% (95% CI 6?33) lower than the reference group.

A NTD case was 45% (95% CI 26?64) less likely to result in termination of pregnancy in those countries with a legal gestation limit for nonlethal anomalies than those with no legal gestational age limit for termination (the reference group). NTD cases from countries with a legal gestation limit for termination of less than or equal 28 weeks were 1% (95% CI ?7 to +5) more likely to result in termination compared with the reference group.


Discussion

This attempt to ?map? the state of prenatal diagnosis in 18 European countries in 2004 has confirmed wide variation in the availability and type of noninvasive screening tests for Down's syndrome, in the number of ultrasound scans offered and in the legal gestational limits regarding TOPFA. This broad view of prenatal diagnosis updates a previous report describing prenatal diagnosis in different countries in Europe between 1993 and 1995.9

In 2004, the majority of countries had moved from solely offering older mothers a diagnostic test to having some form of Down's syndrome screening in place, with over half having an official country-wide policy or recommendation for first- or second-trimester screening. Having a screening policy in place had a measurable impact on prenatal detection rates for Down's syndrome; the registry areas in countries offering primarily first-trimester screening had a significantly higher detection rate than those using a mixed first or second-trimester screening policy; those with some screening but no national screening policy in place were significantly less likely to detect a Down's syndrome case prenatally. However, there are wide variations in detection rates between different countries using similar screening policies. For example, Germany and France have both first and second-trimester screening policies; yet, the prenatal detection rate of Down's syndrome in the German registry area is 63% compared with 90% for France. Some of this difference may be due to a higher proportion of older mothers in the French registry (Paris, 28% of mothers aged ?35 years) than in the German registry area (Mainz, 22% of mothers aged ?35 years) in the period 2002?04. In all countries where TOPFA is legal, the majority of cases of Down's syndrome detected prenatally resulted in termination of pregnancy; in most (7/10) registry areas, more than 90% of prenatally diagnosed affected pregnancies resulted in termination.

Most countries had an official, country-wide policy for routine ultrasound anomaly scanning. This study has used the prenatal detection of NTDs as an indicator for assessing the efficacy of ultrasound anomaly scanning because they are relatively common and are associated with a high prenatal detection rate.10 It may, however, be that other anomalies which are more difficult to detect prenatally would serve as better indicators of the widespread use and quality of ultrasound anomaly screening. Those countries that did not have a policy for offering routine scans had a significantly lower prenatal detection rate of NTD. One factor that may be important when termination of pregnancy is being considered is the gestational age at suspicion of fetal anomaly. Of the countries where TOPFA is legal, the country with the lowest termination rate for NTD (29% of prenatally detected cases) was the Netherlands where the median gestation at prenatal diagnosis was 31 weeks compared with 17 weeks for all countries. However, gestation at diagnosis is not the only factor; in the German registry area, 90% of NTDs were prenatally detected at a median gestation of 18 weeks and less than half (44%) of the prenatally detected cases resulted in termination of pregnancy, while in France, England and Wales and Spain, there were high detection rates (94%) and high (92?98%) termination rates.

Discussion of TOPFA and the legal gestation limit for termination causes controversy. The laws regarding TOPFA vary in their gestation limit in the different countries. This study shows that having a legal limit of less than 28 weeks of gestation for TOPFA does not have a major impact on termination rates for Down's syndrome or NTDs. This implies that a well-organised screening system should be able to ensure that most women are given choices before the fetus becomes viable.

A strength of this study is that it provides information on prenatal policies in place in whole countries rather than in centres of excellence and attempts to relate policies or lack of policies to prenatal detection rates. However, there are limitations; first, because data are only provided from areas covered by full EUROCAT registries; for some countries (e.g. Switzerland and Germany), this will only be from a small area, which is not necessarily representative of the whole country. Second, although the year 2004 has been chosen for the existence or not of a country-wide policy, data are from the years 2002?04. For one country (Denmark, where the screening policy was introduced in 2004), this may underestimate the impact of a recently introduced policy.

The existence of a national policy or recommendation for a particular screening test does not necessarily equate with the delivery of the offer of such screening to all women in all areas because of lack of resources, of information provided to women within the time frame for making an informed decision, lack of uptake or late booking.11,12 The uptake and impact of different programmes will depend on social and cultural factors as well as on the availability of different resources and laws regarding TOPFA. The absence of a national screening policy may reflect a considered decision that is itself ?a policy?.

In this paper, we have concentrated on the two anomalies (Down's syndrome and NTDs) for which screening methods were initially developed. The existence of screening has led to difficult ?grey areas? in terms of what types of birth defect can now be prenatally detected and whether termination of pregnancy is an appropriate choice, for example Turner syndrome and facial clefts.13?15 There is some concern about a potentially negative effect of widespread screening on the perceptions about individuals born with birth defects and the services that might be available for their care.13,14 However, prenatal screening has opened up new possibilities to enhance the treatment and survival of liveborn children with birth defects.16,17

The situation regarding screening policies is not a static one. Some countries will have already updated their policies to achieve higher detection and lower false-positive rates. New developments in noninvasive prenatal testing based on fetal DNA in maternal blood are becoming a realistic prospect for the future.18,19 We can expect that prenatal screening policy will continue to be dynamic and that variation between countries in Europe will continue to lead to large but changing differences in prenatal detection and termination rates.


Conclusion

Prenatal screening policies as well as prenatal diagnosis and TOPFA rates for Down's syndrome and NTDs vary widely across European countries. The majority of Down's syndrome and NTD cases are prenatally detected. Having a legal gestational age limit for TOPFA does not significantly alter the number of pregnancies resulting in TOPFA. National policy is associated with prenatal detection rate, but organisational and cultural factors are clearly important.


Funding

EUROCAT is funded by the European Commission Public Health Programme. P.A.B. is funded at the National Perinatal Epidemiology Unit by the Department of Health in England. The views expressed in this paper are those of the authors and do not necessarily reflect the views of the Department of Health.


Contribution to authorship

E.G., C.D.V., P.A.B. and H.D. designed the study, drafted the questionnaire and designed the data analysis. P.A.B. led the writing of the paper and coordinated the study. M.L. coordinated and analysed the data, B.K. carried out the statistical analysis. All authors contributed to writing and editing the paper.


Ethical approval

All registries have ethical approval appropriate to their national and local ethics guidelines.


We thank the EUROCAT registry leaders for filling in the questionnaires and providing data.


References
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2. Malone FD,Canick JA,Ball RH,Nyberg DA,Comstock CH,Bukowski R,et al. First-trimester or second-trimester screening, or both, for Down's syndromeN Engl J Med 2005;353:2001–11. [pmid: 16282175]
3. Wald NJ,Watt HC,Hackshaw AK. Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimestersN Engl J Med 1999;341:461–7. [pmid: 10441601]
4. Wapner R,Thom E,Simpson JL,Pergament E,Silver R,Filkins K,et al. First-trimester screening for trisomies 21 and 18N Engl J Med 2003;349:1405–13. [pmid: 14534333]
5. EUROCAT. www.eurocat.ulster.ac.uk/pdf/EUROCAT-Guide-1.3.pdf
6. EUROCAT. www.eurocat.ulster.ac.uk/pdf/Special-Report-Prenatal-Diagnosis.pdf
7. Walter SD. Choice of effect measure for epidemiological dataJ Clin Epidemiol 2000;53:931–9. [pmid: 11004419]
8. Robbins AS,Chao SY,Fonseca VP. What's the relative risk? A method to directly estimate risk ratios in cohort studies of common outcomesAnn Epidemiol 2002;12:452–4. [pmid: 12377421]
9. Leschot NJ,Vejerslev LO. Prenatal Diagnosis in EuropeEur J Hum Genet 1997;(Suppl 1):5.
10. Boyd PA,Wellesley DG,De Walle HEK,Tenconi R,Garcia-Minaur S,Zandwijken GRJ,et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across EuropeJ Med Screen 2000;7:169–74. [pmid: 11202581]
11. Marteau TM. Towards informed decisions about prenatal testing: a reviewPrenat Diagn 1995;15:1215–26. [pmid: 8710763]
12. Marteau TM. Prenatal testing: towards realistic expectations of patients, providers and policy makersUltrasound Obstet Gynecol 2002;19:5–6. [pmid: 11851961]
13. Asch A. Prenatal diagnosis and selective abortion: a challenge to practice and policyAm J Public Health 1999;89:1649–57. [pmid: 10553384]
14. Marteau TM,Drake H. Attributions for disability: the influence of genetic screeningSoc Sci Med 1995;40:1127–32. [pmid: 7597466]
15. Mansfield C,Hopfer S,Marteau TM. Termination rates after prenatal diagnosis of Down's syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality)Prenat Diagn 1999;19:808–12. [pmid: 10521836]
16. Bonnet D,Coltri A,Butera G,Fermont L,Le Bidois J,Kachaner J,et al. Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortalityCirculation 1999;99:916–18. [pmid: 10027815]
17. Khoshnood B,De Vigan C,Vodovar V,Goujard J,Lhomme A,Bonnet D,et al. Trends in prenatal diagnosis, pregnancy termination, and perinatal mortality of newborns with congenital heart defects in France, 1983-2000: a population-based evaluationPediatrics 2005;115:95–101. [pmid: 15629987]
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19. Dhallon R,Guo X,Emche S,Damewood M,Bayliss P,Cronin M,et al. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary studyLancet 2007;369:474–81. [pmid: 17292767]

Tables
[TableWrap ID: tbl1] Table 1 

Eighteen countries with EUROCAT membership, total number of births in 2002, number and percentage of births covered by EUROCAT registries


Countries EUROCAT register(s) Total births in country in 2002** Number (%) of births in areas covered by EUROCAT register(s)***
Austria Styria 72 900 10 500 (14)
Belgium Antwerp, Hainaut 113 300 29 500 (26)
Croatia Zagreb 43 000 5500 (13)
Denmark Odense 64 800 5100 (8)
England and Wales NorCAS, North West Thames, Oxford, Trent, Wessex, Wales 662 200 192 800 (29)
Finland Finland* 55 800*** 55 800 (100)
France Auvergne, Paris, Central East*, Strasbourg 773 500 159 400 (21)
Germany Mainz, Saxony-Anhalt 741 600 20 900 (3)
Ireland Cork and Kerry, Dublin 60 500*** 31 235 (52)
Italy Campania, Emilia Romagna, Northeast Italy, Tuscany 522 900 176 800 (34)
Malta Malta 3800*** 3800 (100)
Netherlands North Netherlands 209 300 20 400 (10)
Norway Medical Birth registry of Norway* 56 500*** 56 500 (100)
Portugal Southern Portugal 124 800 19 000 (15)
Poland Wielkopolska, Poland* 386 000 253 300 (66)
Spain Barcelona, Basque, Asturias, Madrid* 413 000 148 900 (36)
Sweden Sweden* 96 200*** 96 200 (100)
Switzerland Vaud 73 000 6800 (9)

*Associate member of EUROCAT.

**2002 World Population Data Sheet, Population Reference Bureau www.prb.org/pdf/WorldPopulationDS02_Eng.pdf.

***EUROCAT website: www.EUROCAT.ulster.ac.uk.


[TableWrap ID: tbl2] Table 2 

National laws regarding TOPFA laws categorised by legal gestational age limit


No legal gestational age limit No legal gestational age limit if lethal Legal gestational age limit ?28 weeks Not legal at any gestation
Austria Netherlands Finland Ireland
Belgium Norway Italy Malta
Croatia Portugal Poland*
England and Wales Denmark Spain
France Sweden
Germany Switzerland

*Only for severe malformations.


[TableWrap ID: tbl3] Table 3 

National policies or recommendations for prenatal screening for Down's syndrome in place in 2004 in 18 European countries


First-trimester screening actually offered
Countries National screening policies or recommendations for Down's syndrome screening test to be offered to all women Nuchal scan Nuchal + biochemistry Second-trimester biochemical screening offered Maternal age at which CVS/amniocentesis are offered
Austria No + + ? ?35
Belgium Yes + + ?36 (charged if <36)
Croatia No ? ? ? ?35
Denmark Yes ? + ? CVS/amniocentesis not offered primarily on basis of maternal age
England and Wales Yes* ? ? ? CVS/amniocentesis not offered primarily on basis of maternal age
Finland Yes ? ? ? ?39
France Yes + ? + ?38
Germany Yes +** +** +** ?35
Ireland No ? ? ? ?
Italy Yes ? ? + ?35
Malta No ? ? ? ?
Netherlands No ? ? +** ?36
Norway No ?** ?** ?** ?38
Poland Yes + + + ?35
Portugal Yes + ? ? ?35
Spain No ? ?** ?** ?35
Sweden No ? ? ? ?35
Switzerland Yes ? + ?*** CVS/amniocentesis not offered primarily on basis of maternal age

+, in place in all areas of country; ?, in place in some areas within country.

*Screening policy was based on a detection rate, that is a screening test should be offered that had a detection rate for Down's syndrome of >60% for a false-positive rate of <5%.

**May be private.

***Primarily first-trimester screening, second-trimester screening for late bookers.


[TableWrap ID: tbl4] Table 4 

Number of Down's syndrome cases delivered in 2002?04, percentage prenatally diagnosed, median (range) weeks of gestation at prenatal diagnosis and number and percentage resulting in termination of pregnancy in 19 EUROCAT registry areas in 12 countries


Prenatal diagnosis Termination of pregnancy
Countries Screening policies* Total cases of Down's syndrome Number of cases % (95% CI)** Median gestation (weeks) at detection (range) Number of cases % of prenatally diagnosed cases (95% CI)** % of total cases (95% CI)**
Denmark A 22 14 64 (41?83) 11 (10?30) 12 86 (57?98) 55 (32?76)
Switzerland A 60 57 95 (86?99) 15 (10?35) 52 91 (81?97) 87 (75?94)
Belgium B 79 53 67 (56?77) 19 (12?25) 48 91 (79?97) 61 (49?72)
England and Wales B 652 429 66 (62?70) 17 (10?40) 325 76 (71?80) 50 (46?54)
France B 455 408 90 (87?92) 16 (11?35) 392 96 (94?98) 86 (83?89)
Germany B 36 23 63 (46?79) 15 (12?36) 22 96 (78?100) 61 (44?77)
Italy B 536 380 71 (67?75) 19 (10?40) 352 93 (90?95) 66 (62?70)
Croatia C 22 7 32 (14?55) 17 (17?17) 7 100 (59?100)*** 32 (14?55)
Netherlands C 88 37 42 (32?53) 14 (10?35) 27 73 (56?86) 31 (21?41)
Spain C 204 153 75 (68?81) 16 (11?29) 147 96 (92?99) 72 (65?78)
Ireland D 130 7 5 (2?11) 26 (13?35) 0 0 0
Malta D 24 0 ? 0 0 ? ?
Total 2308 1568 68 (66?70) 17 (10?40) 1384 88 (87?90) 60 (58?62)

*A, first-trimester screening offered in whole country; B, first- or second-trimester screening offered in whole country; C, no national policy but some form of screening in some of country; D, no screening.

**95% binomial exact confidence intervals.

***One-sided 97.5 CI.


[TableWrap ID: tbl5] Table 5 

National policy/recommendations for routine prenatal ultrasound scans in place in 2004 in 18 European countries


Countries Routine ultrasound scan policy/recommendations Gestation at routine scans (weeks)
Austria Two scans 10?14*, 18?22, 30?34
Belgium Three scans 10?14, 18?23, 29?33
Croatia One scan 10?14*, 18?23, 34?37*
Denmark Two scans 10?14 (nuchal), 18
England and Wales Two scans 10?12, 18?23
Finland One or two scans 16?19 if only one scan, 13?14 and 18?20 if two scans
France Three scans 10?14, 18?23, 29?32
Germany Three scans 9?12, 19?22, 29?32
Ireland No national policy 18?22*
Italy Three scans 10?14, 18?23, 30
Malta No national policy 18?23*, 34?25*
Netherlands No national policy No routine scans
Norway One scan 18
Portugal Three scans 10?14, 18?23, 29?33
Poland Three scans 11?14,18?22, 28?32
Spain No national policy?practice varies between regions 10?14*, 18?23*, 29?33*
Sweden Two scans 10?14, 16?17
Switzerland Two scans 11?14, 20?22

*Not official policy but usually performed.


[TableWrap ID: tbl6] Table 6 

Total number of cases of NTDs, percentage prenatally diagnosed, median (range) weeks of gestation at prenatal diagnosis and number and percentage resulting in termination of pregnancy for 12 countries with EUROCAT registries


Prenatal diagnosis Termination of pregnancy
Countries Ultrasound policies* Total cases of NTD Number of cases % of total cases (95% CI)** Median gestation (weeks) at detection (range) Number of cases % of prenatally diagnosed cases (95% CI)** % of total cases (95% CI)**
Belgium 1 23 19 83 (61?95) 16 (11?29) 17 89 (67?99) 74 (52?90)
Croatia 1 5 4 80 (28?100) 12 (8?16) 4 100 (40?100)*** 80 (28?100)***
Denmark 1 9 8 89 (52?100) 16 (12?36) 7 88 (47?100) 78 (40?97)
England and Wales 1 281 264 94 (91?96) 17 (10?40) 242 92 (88?95) 86 (82?90)
France 1 109 102 94 (87?97) 14 (10?32) 100 98 (93?100) 92 (85?96)
Germany 1 10 9 90 (56?100) 18 (11?34) 4 44 (14?79) 40 (12?74)
Italy 1 137 119 87 (80?92) 18 (10?39) 112 94 (88?98) 82 (74?88)
Switzerland 1 12 10 83 (52?98) 13 (12?18) 10 100 (69?100)*** 83 (52?98)
Ireland 2 48 27 56 (41?71) 22 (16?39) 0 0 (0?13)*** 0
Malta 2 8 2 25 (3?65) 19 (19) 0 0 (0?84)*** 0
Spain 2 65 61 94 (85?98) 16 (11?22) 60 98 (91?100) 92 (83?98)
Netherlands 3 18 14 78 (52?94) 31 (16?40) 4 29 (8?58) 22 (6?48)
Total 12 725 639 88 (86?90) 17 (8?40) 560 88 (85?90) 77 (74?80)

*1, national ultrasound scan policy; 2, no national scan policy but routine scans carried out; 3, no routine scans.

**95% binomial exact confidence intervals.

***One-sided 97.5 confidence limit.



Article Categories:
  • Fetal Medicine

Keywords: Antenatal screening policy, Down's syndrome, neural tube defect, termination of pregnancy for fetal anomaly.

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