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

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

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.

Please cite this paper as: Boyd P, DeVigan C, Khoshnood B, Loane M, Garne E, Dolk H, and the EUROCAT working group. 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. BJOG 2008;115:689–696.

Related collections

Most cited references 16

Record: found
Abstract: found
Article: not found

First-trimester or second-trimester screening, or both, for Down's syndrome.

Mary E. D’Alton, Sabrina D Craigo, Bruce R. Carr … (2005)

It is uncertain how best to screen pregnant women for the presence of fetal Down's syndrome: to perform first-trimester screening, to perform second-trimester screening, or to use strategies incorporating measurements in both trimesters. Women with singleton pregnancies underwent first-trimester combined screening (measurement of nuchal translucency, pregnancy-associated plasma protein A [PAPP-A], and the free beta subunit of human chorionic gonadotropin at 10 weeks 3 days through 13 weeks 6 days of gestation) and second-trimester quadruple screening (measurement of alpha-fetoprotein, total human chorionic gonadotropin, unconjugated estriol, and inhibin A at 15 through 18 weeks of gestation). We compared the results of stepwise sequential screening (risk results provided after each test), fully integrated screening (single risk result provided), and serum integrated screening (identical to fully integrated screening, but without nuchal translucency). First-trimester screening was performed in 38,167 patients; 117 had a fetus with Down's syndrome. At a 5 percent false positive rate, the rates of detection of Down's syndrome were as follows: with first-trimester combined screening, 87 percent, 85 percent, and 82 percent for measurements performed at 11, 12, and 13 weeks, respectively; with second-trimester quadruple screening, 81 percent; with stepwise sequential screening, 95 percent; with serum integrated screening, 88 percent; and with fully integrated screening with first-trimester measurements performed at 11 weeks, 96 percent. Paired comparisons found significant differences between the tests, except for the comparison between serum integrated screening and combined screening. First-trimester combined screening at 11 weeks of gestation is better than second-trimester quadruple screening but at 13 weeks has results similar to second-trimester quadruple screening. Both stepwise sequential screening and fully integrated screening have high rates of detection of Down's syndrome, with low false positive rates. Copyright 2005 Massachusetts Medical Society.

0 comments Cited 138 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection.

Chunming Ding, Nancy Tsui, Kypros Nicolaides … (2007)

Current methods for prenatal diagnosis of chromosomal aneuploidies involve the invasive sampling of fetal materials using procedures such as amniocentesis or chorionic villus sampling and constitute a finite risk to the fetus. Here, we outline a strategy for fetal chromosome dosage assessment that can be performed noninvasively through analysis of placental expressed mRNA in maternal plasma. We achieved noninvasive prenatal diagnosis of fetal trisomy 21 by determining the ratio between alleles of a single-nucleotide polymorphism (SNP) in PLAC4 mRNA, which is transcribed from chromosome 21 and expressed by the placenta, in maternal plasma. PLAC4 mRNA in maternal plasma was fetal derived and cleared after delivery. The allelic ratios in maternal plasma correlated with those in the placenta. Fetal trisomy 21 was detected noninvasively in 90% of cases and excluded in 96.5% of controls.

0 comments Cited 62 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

First-trimester screening for trisomies 21 and 18.

Eugene Pergament, Sean L. Hill, Anthony Johnson … (2003)

Screening for aneuploid pregnancies is routinely performed after 15 weeks of gestation and has a sensitivity of approximately 65 percent, with a false positive rate of 5 percent. First-trimester markers of aneuploidy have been developed, but their use in combination has not been adequately evaluated in clinical practice. We conducted a multicenter study of screening for trisomies 21 and 18 among patients with pregnancies between 74 and 97 days of gestation, based on maternal age, maternal levels of free beta human chorionic gonadotropin and pregnancy-associated plasma protein A, and ultrasonographic measurement of fetal nuchal translucency. A screening result was considered to be positive for trisomy 21 if the calculated risk was at least 1 in 270 pregnancies and positive for trisomy 18 if the risk was at least 1 in 150. Screening was completed in 8514 patients with singleton pregnancies. This approach to screening identified 85.2 percent of the 61 cases of Down's syndrome (95 percent confidence interval, 73.8 to 93.0), with a false positive rate of 9.4 percent (95 percent confidence interval, 8.8 to 10.1). At a false positive rate of 5 percent, the detection rate was 78.7 percent (95 percent confidence interval, 66.3 to 88.1). Screening identified 90.9 percent of the 11 cases of trisomy 18 (95 percent confidence interval, 58.7 to 99.8), with a 2 percent false positive rate. Among women 35 years of age or older, screening identified 89.8 percent of fetuses with trisomy 21, with a false positive rate of 15.2 percent, and 100 percent of fetuses with trisomy 18. First-trimester screening for trisomies 21 and 18 on the basis of maternal age, maternal levels of free beta human chorionic gonadotropin and pregnancy-associated plasma protein A, and measurement of fetal nuchal translucency has good sensitivity at an acceptable false positive rate. Copyright 2003 Massachusetts Medical Society

0 comments Cited 55 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Contributors

: Role: EUROCAT working group

Journal

Journal ID (nlm-ta): BJOG

Journal ID (publisher-id): bjo

Title: Bjog

Publisher: Blackwell Publishing Ltd

ISSN (Print): 1470-0328

ISSN (Electronic): 1471-0528

Publication date (Print): 01 May 2008

Volume: 115

Issue: 6

Pages: 689-696

Affiliations

[a ]National Perinatal Epidemiology Unit, University of Oxford Oxford, UK

[b ]INSERM, UMR S149, Epidemiological Research Unit on Perinatal and Women's Health, Université Pierre et Marie Curie-Paris6 Paris, F75014, France

[c ]Faculty of Life and Health Sciences, University of Ulster Newtonabbey, UK

[d ]Department of Paediatrics, Kolding Hospital Kolding, Denmark

Author notes

Correspondence: Dr PA Boyd, National Perinatal Epidemiology Unit, University of Oxford, Old Road Campus, Oxford OX3 7LF, UK. Email patricia.boyd@ 123456npeu.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.

Article

DOI: 10.1111/j.1471-0528.2008.01700.x

PMC ID: 2344123

PubMed ID: 18410651

SO-VID: 624b0a40-24de-43ed-83ca-53733979517d

History

Date accepted : 29 January 2008

Comments

Comment on this article

scite_

Smart Citations

Citing PublicationsSupportingMentioningContrasting

View Citations

See how this article has been cited at scite.ai

scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.

Cited by 68

See all cited by

Most referenced authors 459

See all reference authors

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

Read this article at

Abstract

Objective

Design

Setting

Population

Methods

Main outcome measures

Results

Conclusions

Related collections

Advocacy for Maternal and Women’s Health

Most cited references 16

First-trimester or second-trimester screening, or both, for Down's syndrome.

Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection.

First-trimester screening for trisomies 21 and 18.

Author and article information

Contributors

Journal

Affiliations

Author notes

Article

History

Categories

Comments

Comment on this article

Similar content 107

Cited by 68

Most referenced authors 459