Screening for Down syndrome: changing practice of obstetricians


      We sought to assess the impact of American College of Obstetrician and Gynecologists (ACOG) guidelines on the practices and knowledge of obstetricians regarding screening for Down syndrome 1 year later.

      Study Design

      A questionnaire on Down syndrome screening was mailed to 968 ACOG Fellows and Junior Fellows.


      The response rate was 53%. The majority (95%) of respondents offer Down syndrome screening to all pregnant patients; 70% of general obstetricians offer the first-trimester screen and 86% the quad screen. Almost two-thirds (63%) of respondents are offering patients ≥ 1 combination of first- and second-trimester screening tests. For women aged < 35 years, 70% offer amniocentesis selectively and 15% routinely. Chorionic villus sampling is offered less frequently. Respondents who more closely read the bulletin were more likely to say their practice had changed, answered more knowledge questions correctly, and felt more qualified to counsel patients. Most (85%) obstetricians personally counsel patients about Down syndrome risk and screening tests. The majority (94-95%) of respondents have access to adequate resources for screening within a 90-minute drive.


      Obstetricians have adopted a new paradigm for Down syndrome screening. First-trimester screening has been incorporated into prenatal care. Experience with these current screening tests will likely influence future guidelines and challenge the long-standing tradition of offering diagnostic testing based on maternal age. This study highlights the need for concise, unambiguous guidelines and a need to address unresolved issues in Down syndrome screening.

      Key words

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to American Journal of Obstetrics & Gynecology
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • ACOG Committee on Practice Bulletins
        ACOG practice bulletin No. 77: screening for fetal chromosomal abnormalities.
        Obstet Gynecol. 2007; 109: 217-227
        • Hill L.D.
        • Erickson K.
        • Holzman G.B.
        • Power M.L.
        • Schulkin J.
        Practice trends in outpatient obstetrics and gynecology: findings of the collaborative ambulatory research network, 1995-2001.
        Obstet Gynecol Surv. 2001; 56: 505-516
        • Benn P.A.
        • Fang M.
        • Egan J.F.
        Trends in the use of second trimester maternal serum screening from 1991 to 2003.
        Genet Med. 2005; 7: 328-331
        • Benn P.A.
        • Egan J.F.
        • Fang M.
        • Smith-Bindman R.
        Changes in the utilization of prenatal diagnosis.
        Obstet Gynecol. 2004; 103: 1255-1260
        • Cleary-Goldman J.
        • Morgan M.A.
        • Malone F.D.
        • Robinson J.N.
        • D'Alton M.E.
        • Schulkin J.
        Screening for Down syndrome: practice patterns and knowledge of obstetricians and gynecologists.
        Obstet Gynecol. 2006; 107: 11-17
        • Knight G.J.
        • Palomaki G.E.
        • Neveux L.M.
        • et al.
        Integrated serum screening for Down syndrome in primary obstetric practice.
        Prenat Diagn. 2005; 25: 1162-1167
        • Weisz B.
        • Pandya P.
        • Chitty L.
        • Jones P.
        • Huttly W.
        • Rodeck C.
        Practical issues drawn from the implementation of the integrated test for Down syndrome screening into routine clinical practice.
        BJOG. 2007; 114: 493-497
        • Morgan M.A.
        • Driscoll D.A.
        • Zinberg S.
        • Schulkin J.
        • Mennuti M.T.
        Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening.
        Obstet Gynecol. 2005; 105: 1355-1361
        • Cleary-Goldman J.
        • Bettes B.
        • Robinson B.J.
        • Norwitz E.
        • D'Alton M.E.
        Postterm pregnancy: practice patterns of contemporary obstetricians and gynecologists.
        Am J Perinatol. 2006; 23: 15-20
        • Cleary-Goldman J.
        • Morgan M.A.
        • Robinson B.J.
        • D'Alton M.E.
        • Schulkin J.
        Multiple pregnancy: knowledge and practice patterns of obstetricians and gynecologists.
        Obstet Gynecol. 2004; 104: 232-237
        • Krieger R.
        • Obolensky E.
        • Norem C.
        • Regional Prenatal Screening Program
        Expanded alpha-fetoprotein (XAFP).
        (Accessed July 5, 2008)
        • Wald N.J.
        • Rodeck C.
        • Hackshaw A.K.
        • Walters J.
        • Chitty L.
        • Mackinson A.M.
        First and second trimester antenatal screening for Down's syndrome: the results of the serum and ultrasound screening study (SURUSS).
        J Med Screen. 2003; 10: 56-104
        • Malone F.
        • Canick J.A.
        • Ball R.H.
        • et al.
        First-trimester or second-trimester screening, or both, for Down's syndrome: first and second-trimester evaluation of risk (FASTER) research consortium.
        N Engl J Med. 2005; 353: 2001-2011
        • Cuckle H.
        • Benn P.
        • Wright D.
        Down syndrome screening in the first and/or second trimester: model predicted performance using meta-analysis parameters.
        Semin Perinatol. 2005; 29: 252-257
        • Wald N.
        • Rudnicka A.R.
        • Bestwick J.P.
        Sequential and contingent prenatal screening for Down syndrome.
        Prenat Diagn. 2006; 26: 769-777
        • Sharma G.
        • McCullough L.B.
        • Chervenak F.A.
        Ethical considerations of early (first vs second trimester) risk assessment disclosure for trisomy 21 and patient choice in screening versus diagnostic testing.
        Am J Med Genet Part C Semin Med Genet. 2007; 145C: 99-104
        • Wright D.
        • Bradbury F.
        • Benn P.
        • Cuckle H.
        • Ritchie K.
        Contingent screening for Down syndrome is an efficient alternative to nondisclosure sequential screening.
        Prenat Diagn. 2004; 24: 762-766
      1. ACOG Committee Opinion #296: first-trimester screening for fetal aneuploidy.
        Obstet Gynecol. 2004; 104: 215-217
        • Newman R.B.
        Putting maternal-fetal safety first–ongoing quality assurance for first trimester prenatal diagnosis: touch briefings.
        Ultrasound Obstet Gynecol. 2007; 1: 20-23
        • Bischoff F.Z.
        • Sinacori M.K.
        • Dang D.D.
        • et al.
        Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosis.
        Hum Reprod Update. 2002; 8: 493-500
        • Macri C.J.
        • Gaba N.D.
        • Sitzer L.M.
        • Freese L.
        • Bathgate S.L.
        • Larsen J.W.
        Implementation and evaluation of a genetics curriculum to improve obstetrician-gynecologist residents' knowledge and skills in genetic diagnosis and counseling.
        Am J Obstet Gynecol. 2005; 193: 1794-1797