title: The impact of HIV infection and antiretroviral therapy on the predicted risk of Down syndrome.
abstract: OBJECTIVE
  The aim of this study was to assess predicted Down syndrome risk, based on three serum analytes (triple test), with HIV infection status and antiretroviral therapy regimen.
  
  
  METHODS
  Screening results in 72 HIV-positive women were compared with results from age-matched and race-matched HIV-negative controls. Mean concentrations of each analyte were compared by serostatus and antiretroviral therapy. Observed Down syndrome incidence in the offspring of HIV-positive women was calculated from national HIV surveillance data.
  
  
  RESULTS
  Overall, women with HIV had a significantly higher probability of receiving a 'high-risk' result than uninfected controls (p = 0.002). Compared with matched uninfected controls, women with HIV infection had significantly higher human chorionic gonadotrophin, lower unconjugated estriol, and higher overall predicted risk of their infant having Down syndrome (1/6250 vs. 1/50 000 p = < 0.001). National surveillance data show no evidence of higher than expected incidence of Down syndrome in the offspring of HIV-positive women.
  
  
  CONCLUSIONS
  HIV infection impacts the serum analytes used to assay for Down syndrome risk resulting in a high rate of 'high risk' results. However, there is no population-based association between maternal HIV infection and Down syndrome. Care should be taken when interpreting high-risk serum screening results in HIV-positive women to avoid unnecessary invasive diagnostic procedures.
authors.affiliation: Section of Infectious Diseases, Faculty of Medicine, Imperial College London, London, UK.
authors.forename: Thomas G
authors.initials: TG
authors.lastname: Charlton
authors.forename: Jamie M
authors.initials: JM
authors.lastname: Franklin
authors.forename: Melanie
authors.initials: M
authors.lastname: Douglas
authors.forename: Charlotte E
authors.initials: CE
authors.lastname: Short
authors.forename: Ian
authors.initials: I
authors.lastname: Mills
authors.forename: Rachel
authors.initials: R
authors.lastname: Smith
authors.forename: Amanda
authors.initials: A
authors.lastname: Clarke
authors.forename: John
authors.initials: J
authors.lastname: Smith
authors.forename: Pat A
authors.initials: PA
authors.lastname: Tookey
authors.forename: Mario
authors.initials: M
authors.lastname: Cortina-Borja
authors.forename: Graham P
authors.initials: GP
authors.lastname: Taylor
mesh_terms: D000328:Adult; D019380:Anti-HIV Agents / Q000627:therapeutic use; D023241:Antiretroviral Therapy, Highly Active; D044383:Black People; D018791:CD4 Lymphocyte Count; D016022:Case-Control Studies; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood*; D004314:Down Syndrome / Q000097:blood* / Q000175:diagnosis; D004964:Estriol / Q000097:blood*; D005260:Female; D015658:HIV Infections / Q000097:blood* / Q000188:drug therapy; D006801:Humans; D008131:London / Q000453:epidemiology; D008423:Maternal Age; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious / Q000097:blood* / Q000188:drug therapy; D011262:Pregnancy Trimester, Second / Q000378:metabolism; D011296:Prenatal Diagnosis; D012367:RNA, Viral / Q000097:blood; D018570:Risk Assessment; D019562:Viral Load; D044465:White People; D055815:Young Adult; D000509:alpha-Fetoproteins / Q000378:metabolism*
chemical_list: D019380:Anti-HIV Agents; D018997:Chorionic Gonadotropin, beta Subunit, Human; D012367:RNA, Viral; D000509:alpha-Fetoproteins; D004964:Estriol