Review Article| Volume 30, ISSUE 3, P565-571, September 2010

First-Trimester Screening for Chromosomal Abnormalities: Advantages of an Instant Results Approach

  • Mary E. Norton
    Kaiser Permanente San Francisco, 2238 Geary Boulevard, 7SE, San Francisco CA 94115.
    Perinatal Genetic Services, The Permanente Medical Group, Kaiser Permanente, 3505 Broadway, Northern California, Oakland, CA 94611, USA

    University of California, 505 Parnassus Avenue, San Francisco, CA 94143, USA
    Search for articles by this author


      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'

      Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.

      Content published before 2002 is available via pay-per-view purchase only.


      Subscribe to Clinics in Laboratory Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Learman L.A.
        • Drey E.A.
        • Gates E.A.
        • et al.
        Abortion attitudes of pregnant women in prenatal care.
        Am J Obstet Gynecol. 2005; 192: 1939-1945
        • Wald N.J.
        • Cuckle H.S.
        • Densem J.W.
        • et al.
        Maternal serum screening for Down syndrome in early pregnancy.
        Br Med J. 1988; 297: 883-887
        • Jorgensen P.I.
        • Trolle D.
        Low urinary oestriol excretion during pregnancy in women giving birth to infants with Down syndrome.
        Lancet. 1972; 2: 782-784
        • Bogart M.H.
        • Pandian M.R.
        • Jones O.W.
        Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities.
        Prenat Diagn. 1987; 7: 623-630
        • Lambert-Messerlian G.M.
        • Canick J.A.
        • Palomaki G.E.
        • et al.
        Second trimester levels of maternal serum inhibin A, total inhibin, alpha inhibin precursor, and activin in Down syndrome pregnancy.
        J Med Screen. 1996; 3: 58-62
        • Wallace E.M.
        • Swanston I.A.
        • McNeilly A.S.
        • et al.
        Second trimester screening for Down syndrome using maternal serum dimeric inhibin A.
        Clin Endocrinol (Oxf). 1996; 44: 17-21
        • Palomaki G.E.
        • Lee J.E.
        • Canick J.A.
        • ACMG Laboratory Quality Assurance Committee
        • et al.
        Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements.
        Genet Med. 2009; 11: 669-681
        • Malone F.D.
        • Canick J.A.
        • Ball R.H.
        • First- and Second-Trimester Evaluation of Risk (FaSTER) Research Consortium
        • et al.
        First-trimester or second-trimester screening, or both, for Down's syndrome.
        N Engl J Med. 2005; 353: 2001-2011
        • Wapner R.
        • Thom E.
        • Simpson J.L.
        • et al.
        First trimester screening for trisomies 21 and 18.
        N Engl J Med. 2003; 349: 1405-1413
        • Wald N.J.
        • Rodeck C.
        • Hackshaw A.K.
        • et al.
        First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS).
        J Med Screen. 2003; 10: 56-104
        • Breathnach F.M.
        • Malone F.D.
        • Lambert-Messerlian G.
        • First and Second Trimester Evaluation of Risk (FASTER) Research Consortium
        • et al.
        First- and second-trimester screening: detection of aneuploidies other than Down syndrome.
        Obstet Gynecol. 2007; 110: 651-657
        • Sharma G.
        • Gold H.T.
        • Chervenak F.A.
        • et al.
        Patient preference regarding first-trimester aneuploidy risk assessment.
        Am J Obstet Gynecol. 2005; 193: 1429-1436
        • 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 C Semin Med Genet. 2007; 145: 99-104
        • Ball R.H.
        • Caughey A.B.
        • Malone F.D.
        • First and Second Trimester Evaluation of Risk (FaSTER) Research Consortium
        • et al.
        First- and second-trimester evaluation of risk for Down syndrome.
        Obstet Gynecol. 2007; 110: 10-17
        • Wenstrom K.D.
        Evaluation of Down syndrome screening strategies.
        Semin Perinatol. 2005; 29: 219-224
      1. The Canadian Early and Mid-trimester Amniocentesis Trial (CEMAT) Group. Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis.
        Lancet. 1998; 351: 242-247
        • Avgidou K.
        • Papageorghiou A.
        • Bindra R.
        • et al.
        Prospective first-trimester screening for trisomy 21 in 30,564 pregnancies.
        Am J Obstet Gynecol. 2005; 192: 1761-1767
        • Spencer K.
        • Aitken D.
        Factors affecting women's preference for type of prenatal screening test for chromosomal anomalies.
        Ultrasound Obstet Gynecol. 2004; 24: 735-739
        • Norton M.E.
        • Hopkins L.M.
        • Pena S.
        • et al.
        First-trimester combined screening: experience with an instant results approach.
        Am J Obstet Gynecol. 2007; 196 (e1–5): 606
        • ACOG Committee on Practice Bulletins
        ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities.
        Obstet Gynecol. 2007; 109: 217-227