Research Article| Volume 12, ISSUE 3, P481-492, September 1992

Alpha-Fetoprotein and Screening Markers of Congenital Disease

      This paper is only available as a PDF. To read, Please Download here.
      Alpha-fetoprotein (AFP) is produced in the gut and liver during fetal life and appears to act like albumin in the adult. Because AFP appears in the maternal circulation during pregnancy, interest has been focused on its measurement in maternal serum to predict fetal abnor-mality. In addition, AFP, as an embryonic product, is elevated in certain malignant states. This article provides a summary of current clinical knowledge of AFP and its applications.
      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


        • Abelev G.I.
        Alpha-fetoprotein in ontogenesis and its association with malignant tumors.
        Adv Cancer Res. 1971; 14: 295
        • Abelev G.I.
        Alpha-fetoprotein as a marker of embryo-specific differentiations in normal and tumor tissues.
        Transplant Rev. 1974; 20: 3
        • Baumgarten A.
        • Schoenfeld M.
        • Mahoney M.J.
        • et al.
        Prospective screening for Down’s syndrome using maternal serum AFP.
        Lancet. 1985; i: 1280
        • Belanger L.
        • Larochelle J.
        • Belanger M.
        • et al.
        Fishman W.H. Sell S. Tyrosinosis: Hereditary Persistence of Alpha-fetoprotein in Oncodevelopment Gene Expression. Academic Press, New York1976, 7
        • Bergstrand C.G.
        • Czar B.
        Demonstration of a new protein fraction in serum from the human fetus.
        Scand J Clin Lab Invest. 1956; 8: 174
        • 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
        • Brock D.J.H.
        • Barron L.
        • Watt M.
        • et al.
        Maternal plasma alpha-fetoprotein and low birth-weight: A prospective study throughout pregnancy.
        Br J Obstet Gynecol. 1982; 89: 348
        • Burton B.K.
        Outcome of pregnancy in patients with unexplained elevated or low levels of maternal serum alpha-fetoprotein.
        Obstet Gynecol. 1988; 72: 709
        • Canick J.A.
        • Knight G.J.
        • Palomaki G.E.
        • et al.
        Low second trimester maternal serum unconjugated estriol in pregnancies with Down’s syndrome.
        Br J Obstet Gynecol. 1988; 95: 330
        • Centers for Disease Control: Congenital Malformations Surveillance Report
        Atlanta, Centers for Disease Control. 1985; (January, 1981-December, 1983): 27
        • Centers for Disease Control: Leading major congenital malformations among minority groups in the United States, 191 -197. CDC surveillance summaries
        MMWR. 1988; 37: 17
        • Chen D.S.
        • Sung J.L.
        Relationship of hepatitis B surface antigen to serum alpha-fetoprotein in nonmalignant diseases of the liver.
        Cancer. 1979; 44: 94
        • Cuckle H.S.
        • Wald N.J.
        • Lindenbaum R.H.
        Maternal serum alpha-fetoprotein measurement: A screening test for Down’s syndrome.
        Lancet. 1984; i: 926
        • Cuckle H.S.
        • Wald N.J.
        • Thompson S.G.
        Estimating a women’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level.
        Br J Obstet Gynecol. 1987; 94: 387
        • Davenport D.M.
        • Macri J.N.
        The clinical significance of low maternal serum alpha-fetoprotein.
        Am J Obstet Gynecol. 1983; 146: 657
        • DiMaio M.S.
        • Baumgarten A.
        • Greenstein R.M.
        • et al.
        Screening for fetal Down’s syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels.
        N Engl J Med. 1987; 3176: 342
        • Dyer S.N.
        • Burton B.K.
        • Nelson L.H.
        Elevated maternal serum alpha-fetoprotein levels and oligohydramnios: Poor prognosis for pregnancy outcome.
        Am J Obstet Gynecol. 1987; 152: 336
        • Ghosh A.
        • Woo J.S.K.
        • Rawlinson H.A.
        • et al.
        Prognostic significance of raised serum alpha-fetoprotein levels in twin pregnancy.
        Br J Obstet Gynecol. 1982; 9: 17
        • Goldstein P.J.
        • Sundaram G.S.
        • Manimekalai S.
        Drug interference on alpha-fetoprotein assays.
        MMJ. 1991; 40: 513
        • Goldstein P.J.
        • Sundaram G.S.
        • Manimekalai S.
        • et al.
        Effect of drug ingestion on maternal serum alpha-fetoprotein.
        Clin Chem. 1991; 37: 934
        • Greenberg F.
        • James I.M.
        • Oakley G.P.
        Estimates of birth prevalence rates of spina bifida in the United States.
        Am J Obstet Gynecol. 1983; 145: 570
        • Haddow J.E.
        • Hill L.E.
        • Palomaki G.E.
        • et al.
        Very low versus undetectable alpha-fetoprotein values and fetal death.
        Prenat Diagn. 1987; 7: 401
        • Haddow J.E.
        • Knight G.J.
        • Kloza E.M.
        • et al.
        Alpha-fetoprotein, vaginal bleeding, and pregnancy risk.
        Br J Obstet Gynecol. 1986; 93: 589
        • Knight G.J.
        • Palomaki G.E.
        • Haddow J.E.
        Use of alpha-fetoprotein measurements to screen for Down’s syndrome.
        Clin Obstet Gynecol. 1988; 31: 306
        • Kohn J.
        • Orr A.
        • McElwain H.
        • et al.
        Serum alpha-fetoprotein in patients with testicular tumors.
        Lancet. 1976; 2: 433
        • Lindenbaum R.H.
        • Ryynanen M.
        • Homes-Siedle M.
        • et al.
        Trisomy 18 and maternal serum and amniotic fluid alpha-fetoprotein.
        Prenat Diagn. 1987; 7: 511
        • Masseyeff R.
        • Gilli J.
        • Krebs B.
        • et al.
        Evolution of alpha-fetoprotein serum levels throughout life in humans and rats and during pregnancy in the rat.
        Ann NY Acad Sei. 1975; 259: 17
        • Mclntire K.R.
        • Waldman T.A.
        • Moertel C.
        • et al.
        Serum alpha-fetoprotein in patients with neoplasms of the gastrointestinal tract.
        Cancer Res. 1975; 35: 991
        • Nishi S.
        Isolation and characterization of a human fetal alpha-globulin from the sera of fetuses and hepatoma patient.
        Cancer Res. 1970; 30: 2507
        • Nishi S.
        • Hirai H.
        Radioimmunoassay of alpha-fetoprotein in hepatoma, other liver diseases and pregnancy.
        Gann Monogr Cancer Res. 1973; 14: 79
        • Palomaki G.E.
        Collaborative study of Down s syndrome screening using maternal serum alpha-fetoprotein and maternal age.
        Lancet. 1986; ii: 1460
        • Palomaki G.E.
        • Haddow J.E.
        Maternal serum alpha-fetoprotein, age, and Down’s syndrome risk.
        Am J Obstet Gynecol. 1987; 156: 460
        • Reimer C.B.
        • Jay Smith S.
        • Wells T.W.
        The U.S. national reference preparation for alpha-fetoprotein in mid-pregnancy maternal serum.
        Clin Chem. 1982; 2: 709
        • Report of the Collaborative Acetylcholinesterase Study
        Amniotic fluid acetylcholinesterase electrophoresis as a secondary test in the diagnosis of anencephaly and open spina bifida in early pregnancy.
        Lancet. 1981; ii: 321
        • Roeper P.J.
        • Harris J.
        • Lee G.
        • et al.
        Secular rates and correlates for gastroschisis in California (1968-1977.
        Teratology. 1987; 35: 203
        • Ruoslahti E.
        • Engvall E.
        • Kessler M.J.
        Chemical properties of alpha-fetoprotein.
        in: Herber-man R.B. Mclntire K.R. Immunodiagnosis of Cancer. Marcel Dekker, New York1979: 101
        • Ruoslahti E.
        • Salaspuro M.
        • Phiko H.
        • et al.
        Serum alpha-fetoprotein: Diagnostic significance in liver disease.
        Br Med J. 1974; 2: 527
        • Ruoslahti E.
        • Seppala M.
        Studies of carcinofetal proteins: Physical and chemical properties of human alpha-fetoprotein.
        Int J Cancer. 1971; 7: 218
        • Seppala M.
        • Aula P.
        • Rapola J.
        • et al.
        Congenital nephrotic syndrome: Prenatal diagnosis and genetic counseling by estimation of amniotic fluid and maternal serum alpha-fetoprotein.
        Lancet. 1976; ii: 123
        • Simpson J.L.
        • Baum L.D.
        • Depp R.
        • et al.
        Low maternal serum alpha-fetoprotein and perinatal outcome.
        Am J Obstet Gynecol. 1987; 156: 852
        • Sizaret P.
        • Anderson S.G.
        The international reference preparation for alpha-fetoprotein.
        J Biol Stand. 1976; 4: 149
        • Stein S.M.
        • Watt M.S.
        • Scrimgeour J.B.
        Very low maternal plasma alpha-fetoprotein concentration: An indication for follow-up.
        Br J Obstet Gynaecol. 1981; 88: 635
        • Sundaram G.S.
        • Manimekalai S.
        • Strummer D.
        • et al.
        Effects of drugs on the assay of tumor marker alpha-fetoprotein.
        J Tumor Marker Oncol. 1987; 2: 255
        • Wald N.J.
        • Cuckle H.S.
        Recent advances in screening for neural tube defects and Down’s syndrome.
        Bailliere Clin Obstet Gynaecol. 1987; 1: 649
        • Wald N.J.
        • Cuckle H.S.
        • Boreham J.
        • et al.
        Maternal serum alpha-fetoprotein and birth weight.
        Br J Obstet Gynaecol. 1980; 87: 860
        • Wald N.J.
        • Cuckle H.S.
        • Densem J.W.
        • et al.
        Maternal serum screening for Down’s syndrome in early pregnancy.
        Br Med J. 1988; 425: 883
        • Waldman T.A.
        • Mclntire K.R.
        Serum alpha-fetoprotein levels in patients with ataxia-telangiectasia.
        Lancet. 1972; 2: 1112
        • Waldman T.A.
        • Mclntire K.R.
        The use of a radioimmunoassay for alpha-fetoprotein in the diagnosis for malignancy.
        Cancer. 1974; 34: 1510
        • Wepsic H.T.
        Alpha-fetoprotein: Its quantitation and relationship to neoplastic disease.
        in: Kirkpatric A. Nakamura R. Alpha-Fetoprotein: Laboratory Procedures and Clinical Applications. Masson Publishing, New York1981: 115