title: The use of nuchal translucency measurement and second trimester biochemical markers in screening for Down's syndrome.
abstract: OBJECTIVE
  To assess the effectiveness of antenatal screening for trisomy 21 by first trimester sonography followed by second trimester biochemical screening.
  
  
  METHODS
  Retrospective five-year review.
  
  
  METHODS
  Maternity unit of a university hospital.
  
  
  METHODS
  An unselected group of 7447 pregnant women who had a first trimester scan and nuchal translucency measurement in our unit after January 1995 and had an estimated date of delivery before 1 January 2000. 11.9% were > or = 37 years old. A subgroup (n = 4,864) also had second trimester biochemical testing by alpha-fetoprotein and free beta-human chorionic gonadotrophin.
  
  
  METHODS
  Prenatal and postnatal diagnosis of trisomy 21. Results There were 23 fetuses affected with trisomy 21. The overall prenatal detection rate was 87% (20/23; 95% CI 66% to 97%) and we performed invasive procedures in 8.5% of our population. First trimester sonography identified 74% (95% CI 51.6% to 89.8%) of affected fetuses. Second trimester biochemical screening detected half of the fetuses with trisomy 21 which were missed by first trimester screening, increasing the sensitivity to 90.5% (19/21; 95% CI 69.6% to 98.8%) for an invasive procedure rate of 4.2% performed in screened positive women. However, the positive predictive value of the biochemical test was very low (0.5%). In screen negative women, karyotyping for advanced maternal age did not detect any affected fetuses.
  
  
  CONCLUSIONS
  First trimester nuchal translucency measurement is an effective screening test for the prenatal detection of fetuses with Down's Syndrome. Although the measurement of biochemical markers in the second trimester can detect additional affected fetuses this may be outweighed by the delay in diagnosis, the extra visits and cost so that the right time for biochemical screening is most likely to be in the first trimester.
authors.affiliation: Department of Obstetrics and Gynaecology, Royal Free Hospital, London, UK.
authors.forename: G D
authors.initials: GD
authors.lastname: Michailidis
authors.forename: K
authors.initials: K
authors.lastname: Spencer
authors.forename: D L
authors.initials: DL
authors.lastname: Economides
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood*; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008423:Maternal Age; D008875:Middle Aged; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D012189:Retrospective Studies; D012307:Risk Factors; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal / Q000592:standards*
chemical_list: D015415:Biomarkers