title: First-trimester screening for Down syndrome in France combining fetal nuchal translucency measurement and biochemical markers.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Biochimie, Hôpital Ambroise Paré, Boulogne, France. francoise.muller@apr.ap-hop-paris.fr
authors.forename: Françoise
authors.initials: F
authors.lastname: Muller
authors.forename: Clarisse
authors.initials: C
authors.lastname: Benattar
authors.forename: François
authors.initials: F
authors.lastname: Audibert
authors.forename: Nathalie
authors.initials: N
authors.lastname: Roussel
authors.forename: Sophie
authors.initials: S
authors.lastname: Dreux
authors.forename: Howard
authors.initials: H
authors.lastname: Cuckle
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000453:epidemiology*; D005260:Female; D005602:France / Q000453:epidemiology; D006403:Hematologic Tests; D006801:Humans; D008403:Mass Screening / Q000379:methods / Q000592:standards; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011266:Pregnancy-Associated Plasma Protein-A; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins
chemical_list: D015415:Biomarkers; D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins; D011266:Pregnancy-Associated Plasma Protein-A