Literature DB >> 14558029

First-trimester screening for Down syndrome in France combining fetal nuchal translucency measurement and biochemical markers.

Françoise Muller1, Clarisse Benattar, François Audibert, Nathalie Roussel, Sophie Dreux, Howard Cuckle.   

Abstract

BACKGROUND: In France, there is a strictly regulated National Screening Programme for Down syndrome, based on second-trimester maternal serum markers. A prospective study of nuchal translucency together with retrospective evaluation of maternal serum markers was carried out to inform decisions on whether to move the programme to the first trimester.
METHODS: Between January 1998 and June 2001, all women who presented for their prenatal care at 12 participating maternity units were, regardless of age, invited to provide a blood sample and to attend for an NT scan at 11 to 13 weeks. The results were used to derive Gaussian distribution parameters. Detection and false-positive rates were computed in two ways: statistical modelling and directly. The cut-off risk was 1 in 250 at term.
RESULTS: A total of 5694 women with singleton pregnancies were screened including 26 with Down syndrome and 24 with other aneuploidies. The model-predicted detection and false-positive rates for combined ultrasound and serum screening were 81 and 4.5% compared to 64 and 6.0% for ultrasound alone. The directly observed rates were 73 and 4.7%, compared to 62 and 5.0% respectively.
CONCLUSION: In France, first-trimester screening with nuchal translucency and maternal serum markers is likely to achieve a high screening efficiency. This has important implications for the national screening policy. Copyright 2003 John Wiley & Sons, Ltd.

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Year:  2003        PMID: 14558029     DOI: 10.1002/pd.700

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  5 in total

1.  Preimplantation genetic diagnosis for Down syndrome pregnancy.

Authors:  Yu Zhang; Chen-ming Xu; Yi-min Zhu; Min-yue Dong; Yu-li Qian; Fan Jin; He-feng Huang
Journal:  J Zhejiang Univ Sci B       Date:  2007-07       Impact factor: 3.066

Review 2.  First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.

Authors:  S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2017-03-15

3.  The impact of temporal variability of biochemical markers PAPP-A and free beta-hCG on the specificity of the first-trimester Down syndrome screening: a Croatian retrospective study.

Authors:  Dubravka Tislarić-Medenjak; Ivana Zec; Ana-Maria Simundić; Senka Sabolović-Rudman; Milan Kos; Zeljka Bukovec Megla
Journal:  BMC Res Notes       Date:  2010-07-14

4.  Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China.

Authors:  Rulin Dai; Yang Yu; Qi Xi; Xiaonan Hu; Haibo Zhu; Ruizhi Liu; Ruixue Wang
Journal:  Mol Cytogenet       Date:  2019-11-06       Impact factor: 2.009

Review 5.  First trimester serum tests for Down's syndrome screening.

Authors:  S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2015-11-30
  5 in total

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