Skip to main content

Part of the book series: Current Clinical Pathology ((CCPATH))

  • 315 Accesses

Abstract

Even before a woman becomes pregnant, the parents-to-be wonder about the health of their future child. This natural concern is why prenatal screening for fetal disorders has attracted considerable attention over the past two decades or more. The interest is both professional and personal. The promise of foretelling the health of the developing baby puts new demands on laboratorians, clinicians, and patients alike. Laboratorians must be fully cognizant of the clinical implications of their screening service, clinicians must liaise with laboratories to provide accurate clinical information, and patients face new choices in the information that they can now receive about their pregnancy.

In Memory of H. Allen Gardner

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Wald NJ. Guidance on terminology. J Med Screen 1994; 1: 76.

    Google Scholar 

  2. Wald NJ. What is genetic screening anyway? J Med Screen 1996; 3: 57.

    PubMed  CAS  Google Scholar 

  3. Carroll JC, Brown JB, Reid AJ, Pugh P. Womens experience of maternal serum screening. Can Fam Physician 2000; 46: 614–620.

    PubMed  CAS  Google Scholar 

  4. Phillips OP, Elias S. Genetics and epidemiology of neural tube defects. In: Elias S, Simpson JL, eds. Maternal Serum Screening. New York: Churchill Livingstone, 1992, pp. 1–23.

    Google Scholar 

  5. Milunsky A. Maternal serum screening for neural tube and other defects. In: Milunsky A, ed. Genetic Disorders of the Fetus: Diagnosis, Prevention and Treatment, 4th ed. Baltimore: Johns Hopkins University Press, 1998, pp. 635–701.

    Google Scholar 

  6. Greenberg F, James LM, Oakley GP. Estimates of birth prevalence rates of spina bifida in the United States from computer-generated maps. Am J Obstet Gynecol 1983; 145: 570–573.

    PubMed  CAS  Google Scholar 

  7. Robert E, Guibaud P. Maternal valproic acid and congenital neural tube defects. Lancet 1982; 2: 937.

    Article  PubMed  CAS  Google Scholar 

  8. Guibaud S, Robert E, Simplot A, Boisson C, Francannet C, Patouraux MH. Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure. Prenat Diagn 1993; 13: 772–773.

    Article  PubMed  CAS  Google Scholar 

  9. Lindhout D, Omtzigt JG, Cornel MC. Spectrum of neural-tube defects in 34 infants prenatally exposed to antiepileptic drugs. Neurology 1992; 42: 111–118.

    Article  PubMed  CAS  Google Scholar 

  10. Rosa FW. Spina bifida in infants of women treated with carbamazepine during pregnancy. N Engl J Med 1991; 324: 674–677.

    Article  PubMed  CAS  Google Scholar 

  11. Milunsky A, Jick H, Jick SS, et al. Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. JAMA 1989; 262: 2847–2852.

    Article  PubMed  CAS  Google Scholar 

  12. Wald NJ, Sneddon J, Densem J, Frost C, Stone R. Prevention of neural tube defects: results of the MRC vitamin study. Lancet 1991; 338: 131–137.

    Article  Google Scholar 

  13. Wald NJ, Law MR, Morris JK, Wald DS. Quantifying the effect of folic acid. Lancet 2001; 358: 2069–2073.

    Article  PubMed  CAS  Google Scholar 

  14. Williams U, Mai CT, Edmonds LD, et al. Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States. Terat 2002; 66: 33–39.

    Article  CAS  Google Scholar 

  15. Palomaki GE, Williams J, Haddow JE. Comparing the observed and predicted effectiveness of folic acid fortification in preventing neural tube defects. J Med Screen 2003; 10: 52–53.

    Article  PubMed  CAS  Google Scholar 

  16. Bergstrand CG, Czar B. Demonstration of a new protein fraction in serum from the human fetus. Scan J Clin Lab Invest 1956; 174: 8.

    Google Scholar 

  17. Benassayag C, Rigourd V, Mignot TM, et al. Does high polyunsaturated free fatty acid level at the feto-maternal interface alter steroid hormone message during pregnancy? Prostaglandins Leukot Essent Fatty Acids 1999; 60: 393–399.

    Article  PubMed  CAS  Google Scholar 

  18. Greenberg F, Faucett A, Rose E, et al. Congenital deficiency of alpha-fetoprotein. Am J Obstet Gynecol 1992; 167: 509–511.

    PubMed  CAS  Google Scholar 

  19. Brock DJH, Sutcliffe RG. Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet 1972; 2: 197–199.

    Article  PubMed  CAS  Google Scholar 

  20. Hino M, Koki Y, Nishi S. Nimpu ketsu na ka noalpha-fetoprotein [Alpha-fetoprotein in pregnant women]. Igaku No Ayumi 1972; 82: 512.

    Google Scholar 

  21. Leek AE, Ruoss CF, Kitau MJ, Chard T. Raised a-fetoprotein in maternal serum with anencephalic pregnancy. Lancet 1973; 2: 385.

    Article  PubMed  CAS  Google Scholar 

  22. Brock DHJ, Bolton AE, Monaghan JM. Prenatal diagnosis of anencephaly through maternal serumalphafetoprotein measurement. Lancet 1973; 2: 923–924.

    Article  PubMed  CAS  Google Scholar 

  23. Second Report of the UK Collaborative Study on Alpha-fetoprotein in Relation to Neural-tube Defects: amniotic-fluid alpha-fetoprotein measurement in antenatal diagnosis of anencephaly and spina bifida in early pregnancy. Lancet 1979;2:651–662.

    Google Scholar 

  24. Report of the Collaborative Acetylcholinesterase Study: amniotic fluid acetylcholinesterase electrophoresis as a secondary test in the diagnosis of anencephaly and spina bifida in early pregnancy. Lancet 1981;2:321–324.

    Google Scholar 

  25. Wald NJ, Brock DJH, Bonnar J. Prenatal diagnosis of spina bifida and anencephaly by maternal serumalpha-fetoprotein measurement. Lancet 1974; 1: 765–767.

    Article  PubMed  CAS  Google Scholar 

  26. Wald NJ, Cuckle H, Brock JH, Peto R, Polani PE, Woodford FP for the report of the UK collaborative study on alpha-fetoprotein in relation to neural-tube defects. Maternal serum-alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Lancet 1977; 1: 1323–1332.

    PubMed  CAS  Google Scholar 

  27. Haddow JE. Biological properties of alpha-fetoprotein in detection of fetal disorders. In: Elias S, Simpson JL, ed. Maternal Serum Screening. New York: Churchill Livingstone, 1992: 25–40.

    Google Scholar 

  28. Wald NJ, Hackshaw A, Stone R, Densem J. Serum alpha-fetoprotein and neural tube defects in the first trimester of pregnancy. Prenat Diagn 1993; 13: 1047–1050.

    Article  PubMed  CAS  Google Scholar 

  29. Crandall BF, Chua C. Detecting neural tube defects by amniocentesis between 11 and 15 weeks’ gestation. Prenat Diagn 1995; 15: 339–343.

    Article  PubMed  CAS  Google Scholar 

  30. Wald NJ, Smith D, Kennard A, et al. Biparietal diameter and crown-rump length in fetuses with Down’ s Syndrome: implications for antenatal serum screening for Down’s syndrome. Br J Obstet Gyneacol 1993; 100: 430–435.

    Article  CAS  Google Scholar 

  31. Hadlock FP, Shah YP, Kanon DJ, Lindsey JV. Fetal crown-rump length: reevaluation of relation to menstrual age (5–18 weeks) with high-resolution real-time US. Radiology 1992; 182: 501–505.

    PubMed  CAS  Google Scholar 

  32. Daya S. Accuracy of gestational age estimation by means of fetal crown-rump length measurement. Am J Obs Gyn 1993; 168: 903–908.

    CAS  Google Scholar 

  33. Hadlock FP, Deter RL, Harrist RB, Park SK. Fetal biparietal diameter: a critical reevaluation of the relation to menstrual age by means of real-time ultrasound. J Ultrasound Med 1982; 1: 97–104.

    PubMed  CAS  Google Scholar 

  34. Wald N, Cuckle H, Boreham J, Stirrat G. Small biparietal diameter of fetuses with spina bifida: implications for antenatal screening. Br J Obstet Gynaecol 1980; 87: 219–221.

    Article  PubMed  CAS  Google Scholar 

  35. Johnson AM. In: Haddow JE, Wald NJ, eds. Alpha-Fetoprotein Screening: The Current Issues. Scarborough, ME: Foundation for Blood Research, 1981, p. 10.

    Google Scholar 

  36. Crandall BF, Lebherz TB, Schroth PC, Matsumoto M. Alpha-fetoprotein concentrations in maternal serum: relation to race and body weight. Clin Chem 1983; 29: 531–533.

    PubMed  CAS  Google Scholar 

  37. Johnson AM, Palomaki GE, Haddow JE. Maternal serum alpha-fetoprotein levels in pregnancies among black and white women with fetal open spina bifida: a United States collaborative study. Am J Obstet Gyneco11990; 162: 328–331.

    Google Scholar 

  38. Watt HC, Wald NJ, Smith D, Kennard A, Densem J. Effect of allowing for ethnic group in prenatal screening for Downs syndrome. Prenat Diagn 1996; 16: 691–698.

    Article  PubMed  CAS  Google Scholar 

  39. O’Brien JE, Drugan A, Chervenak FA, et al. Maternal serum alpha-fetoprotein screening: the need to use race/ethnic specific medians in Asians. Fetal Diagn Ther 1993; 8: 367–370.

    Article  PubMed  Google Scholar 

  40. Haddow JE, Kloza EM, Knight GJ, Smith DE. Relationship between maternal weight and serum alphafetoprotein concentration during the second trimester. Clin Chem 1981; 27: 133–134.

    PubMed  CAS  Google Scholar 

  41. Wald NJ, Cuckle HS, Boreham J, Terzian E, Redman C. The effect of maternal weight on maternal serum alpha-fetoprotein levels. Br J Obstet Gynaecol 1981; 88: 1094–1096.

    Article  PubMed  CAS  Google Scholar 

  42. Johnson AM, Palomaki GE, Haddow JE. The effect of adjusting maternal serum alpha-fetoprotein levels for maternal weight in pregnancies with fetal open spina bifida: a United States collaborative study. Am J Obstet Gynecol 1990; 163: 9–11.

    PubMed  CAS  Google Scholar 

  43. Palomaki GE, Panizza DS, Canick JA. Screening for Down syndrome using AFP, uE3 and hCG: effect of maternal weight. Am J Hum Genet 1990; 7: 282a.

    Google Scholar 

  44. Neveux LM, Palomaki GE, Larrivee DA, Knight GJ, Haddow JE. Refinements in managing maternal weight adjustment for interpreting prenatal screening results. Prenat Diagn 1996; 16: 1115–1119.

    Article  PubMed  CAS  Google Scholar 

  45. Canick JA, Panizza DS, Palomaki GE. Prenatal screening for Down syndrome using AFP, uE3 and hCG: effect of maternal race, insulin-dependent diabetes and twin pregnancy. Am J Human Genet 1990; 47: 270.

    Google Scholar 

  46. Wald NJ, Cuckle H, Wu T, George L. Maternal serum unconjugated oestriol and human chorionic gonadotrophin levels in twin pregnancies: implications for Down’s syndrome. Br J Obstet Gynaecol 1991; 98: 905–908.

    Article  PubMed  CAS  Google Scholar 

  47. Neveux LM, Palomaki GE, Knight GJ, Haddow JE. Multiple marker screening for Down syndrome in twin pregnancies. Prenat Diagn 1996; 16: 29–34.

    Article  PubMed  CAS  Google Scholar 

  48. Wald NJ, Cuckle HS, Peck S, Stirrat GM, Turnbull AC. Maternal serum alpha-fetoprotein in relation to zygosity. Br Med J 1979; 1: 455.

    Article  PubMed  CAS  Google Scholar 

  49. Thom H, Buckland CM, Campbell AGM, Thompson B, Farr V. Maternal serum AFP in monozygotic and dizygotic twin pregnancies. Prenat Diagn 1984; 4: 341–346.

    Article  PubMed  CAS  Google Scholar 

  50. Wald NJ, Cuckle HS, Boreham J, Stirrat GM, Turnbull AC. Maternal serum alpha-fetoprotein and diabetes mellitus. Br J Obstet Gynaecol 1979; 86: 101–105.

    Article  PubMed  CAS  Google Scholar 

  51. Milunsky A, Alpert E, Kitzmiller JL, Younger MD, Neff RK. Prenatal diagnosis of neural tube defects. VIII. The importance of alpha-fetoprotein screening in diabetic women. Am J Obstet Gynecol 1982; 142: 1030–1032.

    PubMed  CAS  Google Scholar 

  52. Henriques CU, Damm P, Tabor A, Pedersen JF, Molsted-Pedersen L. Decreased alpha-fetoprotein in amniotic fluid and maternal serum in diabetic pregnancy. Obstet Gynecol 1993; 82: 960–964.

    PubMed  CAS  Google Scholar 

  53. Wald NJ, Hackshaw AK, George LM. Assay precision of serum a-fetoprotein in antenatal screening for neural tube defects and Down’s syndrome. J Med Screen 2000; 7: 74–77.

    Article  PubMed  CAS  Google Scholar 

  54. MacRae AR, Gardner HA, Allen LC, Tokmakejian S, Lepage N. Outcome validation of the Beckman Coulter Access analyzer in a second-trimester Down syndrome serum screening application. Clin Chem 2003; 49: 69–76.

    Article  PubMed  CAS  Google Scholar 

  55. Wald NJ, Cuckle HS, Densem JW, Kennard A, Smith D. Maternal serum screening for Down’s syndrome: the effect of routine ultrasound scan determination of gestational age and adjustment for maternal weight. Br J Obstet Gynaecol 1992; 99: 144–149.

    Article  PubMed  CAS  Google Scholar 

  56. Cuckle H, Wald N, Stevenson JD, et al. Maternal serum alpha-fetoprotein screening for open neural tube defects in twin pregnancies. Prenat Diagn 1990; 10: 71–77.

    Article  PubMed  CAS  Google Scholar 

  57. Palomaki GE, Williams JR, Haddow JE. Prenatal screening for open neural-tube defects in Maine. N Engl J Med 1999; 340: 1049–1050.

    Article  PubMed  CAS  Google Scholar 

  58. Papp Z, Toth Z, Torok O, Szabo M. Prenatal diagnosis policy without routine amniocentesis in pregnancies with a positive family history for neural tube defects. Am J Med Gen 1987; 26: 103–110.

    Article  CAS  Google Scholar 

  59. Wax JR, Lopes AM, Benn PA, Lerer T, Steinfeld JD, Ingardia CJ. Unexplained elevated midtrimester maternal serum levels of alpha fetoprotein, human chorionic gonadotropin, or low unconjugated estriol: recurrence risk and association with adverse perinatal outcome. J Matern Fetal Med 2000; 9: 161–164.

    Article  PubMed  CAS  Google Scholar 

  60. Kucera J. Rate and type of congenital anomalies among offspring of diabetic women. J Reprod Med 1971; 7: 73–82.

    PubMed  CAS  Google Scholar 

  61. Mills J, Baker L, Goldman A. Malformations in infants of diabetic mothers occur before the seventh gestational week. Diabetes 1979; 28: 292–293.

    Article  PubMed  CAS  Google Scholar 

  62. Waller DK, Mills JL, Simpson JL, et al. Are obese women at higher risk for producing malformed offspring? Am J Obstet Gynecol 1994; 170: 541–548.

    PubMed  CAS  Google Scholar 

  63. Werler MM, Louik CL, Shapiro S, Mitchell AA. Prepregnant weight in relation to risk of neural tube defects. JAMA 1996; 275: 1089–1092.

    Article  PubMed  CAS  Google Scholar 

  64. Shaw GM, Velie EM, Schaffer D. Risk of neural tube defect-affected pregnancies among obese women. JAMA 1996; 275: 1093–1096.

    Article  PubMed  CAS  Google Scholar 

  65. Watkins ML, Rasmussen SA, Honein MA, Botto LD, Moore CA. Maternal obesity and risk for birth defects. Pediatrics 2003; 111: 1152–1158.

    PubMed  Google Scholar 

  66. Waller DK, Lustig LS, Cunningham GC, Feuchtbaum LB, Hook EB. The association between maternal serum alpha-fetoprotein and preterm birth, small for gestational age infants, preeclampsia, and placental complications. Obstet Gynecol 1996; 88: 816–822.

    Article  PubMed  CAS  Google Scholar 

  67. Wald NJ, Cuckle HS, Haddow JE, Doherty RA, Knight GJ, Palomaki GE. Sensitivity of ultrasound in detecting spina bifida. N Engl J Med 1991; 324: 769–772.

    Article  Google Scholar 

  68. Boyd PA, Wellesley DG, DeWalle HEK, et al. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. J Med Screen 2000; 7: 169–174.

    Article  PubMed  CAS  Google Scholar 

  69. Estimating an individual’s risk of having a fetus with open spina bifida and the value of repeat AFP testing. Report of the Fourth UK collaborative study on AFP in relation to neural tube defects. J Epidem Comm Health 1982; 36: 87–95.

    Article  Google Scholar 

  70. Smith AD, Wald NJ, Cuckle HS, Stirrat GM, Bobrow M, Lagercrantz H. Amniotic fluid acetylcholinesterase as a possible diagnostic test for neural-tube defects in early pregnancy. Lancet 1979; 1: 685688.

    Google Scholar 

  71. Wald N, Cuckle H, Nanchahal K. Amniotic fluid acetylcholinesterase measurement in the prenatal diagnosis of open neural tube defects: second report of the collaborative acetylcholinesterase study. Prenat Diagn 1989; 9: 813–829.

    Article  PubMed  CAS  Google Scholar 

  72. Down JL. Observations on an ethnic classification of idiots. Clinical Lecture Reports, London Hospital 1866; 3: 259.

    Google Scholar 

  73. Wald, N. Down’s syndrome. In: Wald N, Leck I, eds. Antenatal and Neonatal Screening. Oxford: Oxford University Press, 2000: 85.

    Chapter  Google Scholar 

  74. Noble, J. Natural history of Down’s syndrome: a brief review for those involved in antenatal screening. J Med Screen 1998; 5: 172–177.

    PubMed  CAS  Google Scholar 

  75. Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 1998; 77: 431–438.

    Article  PubMed  CAS  Google Scholar 

  76. Lejeune J, Gautier M, Turpin R. Etude des chromosomes somatiques de neuf enfants mongoliens. CR Acad Sci Paris 1959; 248: 1721–1722.

    CAS  Google Scholar 

  77. Steele MW, Breg WR. Chromosome analysis of human amniotic-fluid cells. Lancet 1966; 1: 383–385.

    Article  PubMed  CAS  Google Scholar 

  78. Valenti C, Schutta EJ, Kehaty T. Prenatal diagnosis of Down’s syndrome. Lancet 1968;ii:220.

    Article  Google Scholar 

  79. Tabor A, Philip J, Madsen M, Bang J, Obel EB, Norgaard-Pedersen B. Randomized controlled trial of genetic amniocentesis in 4606 low risk women. Lancet 1986; 1: 1287–1293.

    Article  PubMed  CAS  Google Scholar 

  80. Evaluation of chorionic villus sampling safety. WHO/PAHO consultation on CVS. Prenat Diagn 1999; 19: 97–99.

    Article  Google Scholar 

  81. Brun JL, Mangione R, Gangbo F, et al. Feasibility, accuracy and safety of chorionic villus sampling: a report of 10741 cases. Prenat Diagn 2003; 23: 295–301.

    Article  PubMed  Google Scholar 

  82. The Canadian Early and Mid-Trimester Amniocentesis Trial (CEMAT) Group. Randomized trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 1998; 351: 242–247.

    Article  Google Scholar 

  83. a. Alfirevic Z, Sundberg K, Brigham S. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev 2003;3:CD0003252.

    Google Scholar 

  84. Penrose LS. The relative effects of paternal and maternal age in mongolism. J Genet 1933; 27: 219–224.

    Article  Google Scholar 

  85. Cuckle HS, Wald NJ, Thompson SG. Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol 1987; 94: 387–402.

    Article  PubMed  CAS  Google Scholar 

  86. Hecht CA, Hook EB. The imprecision in rates of Down syndrome by 1-year maternal age intervals: a critical analysis of rates used in biochemical screening. Prenat Diagn 1994; 14: 729–738.

    Article  PubMed  CAS  Google Scholar 

  87. Hecht CA, Hook EB. Rates of Down syndrome at livebirth by one-year maternal age intervals in studies with apparent close to complete ascertainment in populations of European origin: a proposed rate schedule for use in genetic and prenatal screening. Am J Med Genet 1996; 62: 376–385.

    Article  PubMed  CAS  Google Scholar 

  88. Bray I, Wright DE, Davies C, Hook EB. Joint estimation of Down syndrome risk and ascertainment rates: a meta-analysis of nine published data sets. Prenat Diagn 1998; 18: 9–20.

    Article  PubMed  CAS  Google Scholar 

  89. Huether CA, Ivanovich J, Goodwin BS, et al. Maternal age specific risk rate estimates for Down syndrome among live births in whites and other races from Ohio and metropolitan Atlanta, 1970–1989. J Med Genet 1998; 35: 482–490.

    Article  PubMed  CAS  Google Scholar 

  90. Morris JK, Mutton DE, Alberman E. Revised estimates of the maternal age specific live birth prevalence of Down syndrome. J Med Screen 2002; 9: 2–6.

    Article  PubMed  CAS  Google Scholar 

  91. Cuckle H. Down syndrome fetal loss rate in early pregnancy. Prenat Diagn 1999; 19: 1177–1179.

    Article  PubMed  CAS  Google Scholar 

  92. Morris JK, Wald NJ, Watt HC. Fetal loss in Down syndrome pregnancies. Prenat Diagn 1999; 19: 142–145.

    Article  PubMed  CAS  Google Scholar 

  93. Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. An association between low maternal serum alphafetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol 1984; 148: 886–894.

    PubMed  CAS  Google Scholar 

  94. Cuckle HS, Wald NJ, Lindenbaum RH. Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome. Lancet 1984; 1: 926–929.

    Article  PubMed  CAS  Google Scholar 

  95. Wald NJ, Kennard A, Hackshaw A, McGuire A. Antenatal screening for Down’s syndrome. J Med Screen 1997; 4: 181–246.

    PubMed  CAS  Google Scholar 

  96. Chard T, Lowings C, Kitau MJ. a-fetoprotein and chorionic gonadotrophin levels in relation to Down syndrome. Lancet 1984; 2: 750.

    Article  PubMed  CAS  Google Scholar 

  97. Jergansen PI, Trolle D. Low urinary oestriol excretion during pregnancy in women giving birth to infants with Down’s syndrome. Lancet 1972;ii:782–784.

    Article  Google Scholar 

  98. CanickJA, Knight GJ, Palomaki GE, Haddow JE, Cuckle HS, Wald NJ. Low second trimester maternal serum estriol in Down syndrome pregnancies. Am J Hum Genet 1987; 41: A269.

    Google Scholar 

  99. Canick JA, Knight GJ, Palomaki GE, Haddow JE, Cuckle HS, Wald NJ. Low second trimester maternal serum unconjugated oestriol in pregnancies with Down syndrome. Br J Obstet Gynaecol 1988; 95: 330–333.

    Article  PubMed  CAS  Google Scholar 

  100. Bogart MH, Pandian MR, Jones OW. Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn 1987; 7: 623–630.

    Article  PubMed  CAS  Google Scholar 

  101. Macri JN, Kasturi RV, Krantz DA, et al. Maternal serum Down syndrome screening: free beta-protein is a more effective marker than human chorionic gonadotropin. Am J Obstet Gynecol 1990; 163: 1248–1253.

    PubMed  CAS  Google Scholar 

  102. Knight GJ, Palomaki GE, Neveux LM, Fodor KK, Haddow JE. hCG and the free beta-subunit as screening tests for Down syndrome. Prenat Diagn 1998; 18: 235–245.

    Article  PubMed  CAS  Google Scholar 

  103. Wald NJ, Densem JW, Smith D, Klee GG. Four-marker serum screening for Down’s syndrome. Prenat Diagn 1994; 14: 707–716.

    Article  PubMed  CAS  Google Scholar 

  104. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. 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.

    Article  PubMed  CAS  Google Scholar 

  105. Van Lith JM, Pratt JJ, Beekhuis JR, Mantingh A. Second-trimester maternal serum immunoreactive inhibin as a marker for fetal Down’s syndrome. Prenat Diagn 1992; 12: 801–806.

    Article  PubMed  Google Scholar 

  106. Qin QP, Christiansen M, Nguyen TH, Sorensen S, Larsen SO, Norgaard-Pedersen B. Schwangerschaftsprotein 1 (SP1) as a maternal serum marker for Down syndrome in the first and second trimesters. Prenat Diagn 1997; 17: 101–108.

    Article  PubMed  CAS  Google Scholar 

  107. Morez C, Maymon R, Jauniaux E, Traub L, Cuckle H. Screening for trisomies 21 and 18 with maternal serum placental isoferritin p43 component. Prenat Diagn 2000; 20: 395–399.

    Article  Google Scholar 

  108. Ryall RG, Staples AJ, Robertson EF, Pollard AC. Improved performance in a prenatal screening programme for Down’s syndrome incorporating serum-free hCG subunit analyses. Prenat Diagn 1992; 12: 251–261.

    Article  PubMed  CAS  Google Scholar 

  109. Cuckle HS, Wald NJ, Densem JW, Royston P. The effect of smoking in pregnancy on maternal serum alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin, progesterone and dehydroepiandrosterone sulphate levels. Br J Obstet Gynaecol 1990; 97: 272–276.

    Article  PubMed  CAS  Google Scholar 

  110. Christiansen M, Oxvig C, Wagner JM, et al. The proform of eosinophil major basic protein: a new maternal serum marker for Down syndrome. Prenat Diagn 1999; 19: 905–910.

    Article  PubMed  CAS  Google Scholar 

  111. Yamamoto R, Azuma M, Wakui Y, et al. Alpha-fetoprotein microheterogeneity: a potential biochemical marker for Down’s syndrome. Clin Chim Acta 2001; 304: 137–141.

    Article  PubMed  CAS  Google Scholar 

  112. Cuckle HS, Wald NJ, Goodburn SF, Sneddon J, Amess JA, Dunn SC. Measurement of activity of urea resistant neutrophil alkaline phosphatase as an antenatal screening test for Down’s syndrome. Br Med J 1990; 301: 1024–1026.

    Article  CAS  Google Scholar 

  113. Cuckle HS, Canick JA, Kellner LH. Collaborative study of maternal urine beta-core human chorionic gonadotrophin screening for Down syndrome. Prenat Diagn 1999; 19: 911–917.

    Article  PubMed  CAS  Google Scholar 

  114. Cuckle HS, Wald NJ. Thompson SG. Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol 1987;94:387–402.

    Google Scholar 

  115. Palomaki GE, Haddow JE. Maternal serum a fetoprotein, maternal age, and Down syndrome risk. Am J Obstet Gynecol 1987; 156: 460–463.

    PubMed  CAS  Google Scholar 

  116. Wald NJ, Cuckle HS, Densem JW, et al. Maternal serum unconjugated oestriol as an antenatal screening test for Down’s syndrome. Br J Obstet Gynaecol 1988; 95: 334–341.

    Article  PubMed  CAS  Google Scholar 

  117. Wald NJ, Cuckle HS, Densem JW, et al. Maternal serum screening for Down’s syndrome in early pregnancy. Br Med J 1988; 297: 883–887.

    Article  CAS  Google Scholar 

  118. Wald NJ, Densem JW, George L, Muttukrishna S, Knight PG. Prenatal screening for Down’ s syndrome using inhibin-A as a serum marker. Prenat Diagn 1996;16:143–153. Erratum: Prenat Diagn 1997; 17: 285–290.

    Article  PubMed  CAS  Google Scholar 

  119. Cuckle HS, Holding S, Jones R, Groome NP, Wallace EM. Combining inhibin A with existing second-trimester markers in maternal serum screening for Down’s syndrome. Prenat Diagn 1996; 16: 1095–1100.

    Article  PubMed  CAS  Google Scholar 

  120. Haddow JE, Palomaki GE, Knight GJ, Foster DL, Neveux LM. Second trimester screening for Down’s syndrome using maternal serum dimeric inhibin A. J Med Screen 1998; 5: 115–119.

    PubMed  CAS  Google Scholar 

  121. Capone GT. Down syndrome: advances in molecular biology and the neurosciences. J Dev Behav Pediatr 2001; 22: 40–59.

    Article  PubMed  CAS  Google Scholar 

  122. Eldar-Geva T, Hochberg A, deGroot N, Weinstein D. High maternal serum chorionic gonadotropin level in Downs’ syndrome pregnancies is caused by elevation of both subunits messenger ribonucleic acid level in trophoblasts. J Clin Endocrinol Metab 1995; 80: 3528–3531

    Article  PubMed  CAS  Google Scholar 

  123. Lambert-Messerlian GM, Luisi S, Florio P, Mazza V, Canick JA, Petraglia F. Second trimester levels of maternal serum total activin A and placental inhibin/activin alpha and betaA subunit messenger ribonucleic acids in Down syndrome pregnancy. Eur J Endocrinol 1998; 138: 425–429.

    Article  PubMed  CAS  Google Scholar 

  124. Dalgliesh GL, Aitken DA, Lyall F, Howatson AG, Connor JM. Placental and maternal serum inhibinA and activin-A levels in Down’s syndrome pregnancies. Placenta 2001; 22: 227–234.

    Article  PubMed  CAS  Google Scholar 

  125. Frendo JL, Vidaud M, Guibourdenche J, et al. Defect of villous cytotrophoblast differentiation into syncytiotrophoblast in Down’s syndrome. J Clin Endocrinol Metab 2000; 85: 3700–3707.

    Article  PubMed  CAS  Google Scholar 

  126. Newby D, Aitken DA, Crossley JA, Howatson AG, Macri JN, Connor JM. Biochemical markers of trisomy 21 and the pathophysiology of Down’s syndrome pregnancies. Prenat Diagn 1997; 17: 941–951.

    Article  PubMed  CAS  Google Scholar 

  127. Newby D, Aitken DA, Howatson AG, Connor JM. Placental synthesis of oestriol in Down’ s syndrome pregnancies. Placenta 2000; 21: 263–267.

    Article  PubMed  CAS  Google Scholar 

  128. Golbus MS. Development in the first half of gestation of genetically abnormal human fetuses. Teratology 1978; 18: 333–335.

    Article  PubMed  CAS  Google Scholar 

  129. Shepard TH, FitzSimmons JM, Fantel AG, Pascoe-Mason J. Placental weights of normal and aneuploid early human fetuses. Pediatr Pathol 1989; 9: 425–431.

    Article  PubMed  CAS  Google Scholar 

  130. Wald NJ, Hackshaw AK. Advances in antenatal screening for Down syndrome. Best Prac Res Clin Obstet Gynaecol. 2000; 14: 563–580.

    Article  CAS  Google Scholar 

  131. Knight GJ, Cole LA. Measurement of choriogonadotropin free beta-subunit: an alternative to choriogonadotropin in screening for fetal Down’s syndrome? Clin Chem 1991; 37: 779–782.

    PubMed  CAS  Google Scholar 

  132. Muller F, Doche C, Ngo S, et al. Stability of free beta-subunit in routine practice for trisomy 21 maternal serum screening. Prenat Diagn 1999; 19: 85–86.

    Article  PubMed  CAS  Google Scholar 

  133. McCullagh DR. Dual endocrine activity of the testis. Science 1932; 76: 19–20.

    Article  PubMed  CAS  Google Scholar 

  134. Vale W, Rivier C, Hsueh A, et al. Chemical and biological characterization of the inhibin family of protein hormones. Rec Progress Horm Res 1988; 44: 1–34.

    CAS  Google Scholar 

  135. Groome N, O’Brian M. Immunoassays for inhibin and its subunits. J Immunol Meth 1993; 165: 167–176.

    Article  CAS  Google Scholar 

  136. Groome NP, Illingworth PJ, O’Brien M, et al. Detection of dimeric inhibin throughout the human menstrual cycle by two-site enzyme immunoassay. Clin Endocrinol 1994; 40: 717–723.

    Article  CAS  Google Scholar 

  137. Knight GJ, Palomaki GE, Neveux LM, Haddow JE, Lambert-Messerlian GM. Clinical validation of a new dimeric inhibin-A assay suitable for second trimester Down’s syndrome screening. J Med Screen 2001; 8: 2–7.

    Article  PubMed  CAS  Google Scholar 

  138. MacRae AR, Allen LC, Lepage N, Tokmakjian S. Validation of an automated dimeric inhibin A assay for use in maternal serum screening for Down syndrome. Clin Chem 2001; 47: A150.

    Google Scholar 

  139. Cuckle HS, Wald NJ, Densem JW, Canick J, Abell KB. Second trimester amniotic fluid oestriol, dehydroepiandrosterone sulphate, and human chorionic gonadotrophin levels in Down’ s syndrome. Br J Obstet Gynaecol 1991; 98: 1160–1162.

    Article  PubMed  CAS  Google Scholar 

  140. Wald NJ, Cheng R, Cuckle HS, et al. Maternal serum levels of the estriol precursor, 16aOH-DHEAS, are low in Down syndrome pregnancy. Am J Hum Genet 1992; 51: A1046.

    Google Scholar 

  141. Kronquist KE, Dreazen E, Keener SL, Nicholas TW, Crandall BF. Reduced fetal hepatic alpha-. fetoprotein levels in Downs syndrome. Prenat Diagn 1990; 10: 739–751.

    Article  PubMed  CAS  Google Scholar 

  142. Cuckle HS, Wald NJ, Lindenbaum RH, Jonasson J. Amniotic fluid AFP levels and Down syndrome. Lancet 1985; 1: 290–291.

    Article  PubMed  CAS  Google Scholar 

  143. Davis RO, Cosper P, Huddleston JF, et al. Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. Am J Obstet Gynecol 1985; 153: 541–544.

    PubMed  CAS  Google Scholar 

  144. MacRae AR, Heick HMC, Canick JA, Kellner LH. Does the mid-trimester rise in serum unconjugated estriol truly conform to a log-linear pattern? Am J Hum Genet 1998; 63: A168.

    Google Scholar 

  145. Watt HC, Wald NJ, Huttly WJ. The pattern of maternal serum Inhibin-A concentrations in the second trimester of pregnancy. Prenat Diagn 1998; 18: 846–848.

    Article  PubMed  CAS  Google Scholar 

  146. Wald NJ, Watt HC, Haddow JE, Knight GJ. Screening for Down syndrome at 14 weeks of pregnancy. Prenat Diagn 1998; 18: 291–293.

    Article  PubMed  CAS  Google Scholar 

  147. Benn PA, Borgida A, Home D, Briganti S, Collins R, Rodis JF. Down syndrome and neural tube defect screening: the value of using gestational age by ultrasonography. Am J Obstet Gynecol 1997; 176: 1056–1061.

    Article  PubMed  CAS  Google Scholar 

  148. Haddow JE, Palomaki GE, Knight GJ, Canick JA. In: Prenatal Screening for Major Fetal Disorders, vol. II: Screening for Down Syndrome. Scarborough, ME: Foundation for Blood Research, 1998.

    Google Scholar 

  149. Jou H, Shyu M, Shih J, et al. Second trimester maternal serum hCG level in an Asian population: normal reference values by ultrasound dating. J Matern Fetal Med 2000; 9: 118–121.

    Article  PubMed  CAS  Google Scholar 

  150. Benn PA, Clive JM, Collins R. Medians for second-trimester maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol; differences between races or ethnic groups. Clin Chem 1997; 43: 333–337.

    PubMed  CAS  Google Scholar 

  151. Wald NJ, Cuckle HS, Densem JW, Stone RB. Maternal serum unconjugated oestriol and human chorionic gonadotrophin levels in pregnancies with insulin-dependent diabetes: implications for screening for Down’s syndrome. Br J Obstet Gynaecol 1992; 99: 51–53.

    Article  PubMed  CAS  Google Scholar 

  152. Wallace EM, Crossley JA, Ritoe SC, Groome NP, Aitken DA. Maternal serum inhibin-A in pregnancies complicated by insulin dependent diabetes mellitus. Br J Obstet Gynaecol 1997; 104: 946–948.

    Article  PubMed  CAS  Google Scholar 

  153. Wald NJ, Watt HC, George L. Maternal serum inhibin-A in pregnancies with insulin dependent diabetes: implications for screening for Down’s syndrome. Prenat Diagn 1996; 16: 923–926.

    Article  PubMed  CAS  Google Scholar 

  154. Watt HC, Wald NJ, George L. Maternal serum inhibin-A levels in twin pregnancies: implications for screening for Down’s syndrome. Prenat Diagn 1996; 16: 927–929.

    Article  PubMed  CAS  Google Scholar 

  155. Wald N, Cuckle H, Wu TS, George L. Maternal serum unconjugated oestriol and human chorionic gonadotrophin levels in twin pregnancies: implications for screening for Down’s syndrome. Br J Obstet Gynaecol 1991; 98: 905–908.

    Article  PubMed  CAS  Google Scholar 

  156. Muller F, Dreux S, Dupoizat H, et al. Second-trimester Down syndrome maternal serum screening in twin pregnancies: impact of chorionicity. Prenat Diagn 2003; 23: 331–335.

    Article  PubMed  Google Scholar 

  157. Rudnicka AR, Wald NJ, Huttly W, Hackshaw AK. Influence of maternal smoking on the birth prevalence of Down syndrome and on second trimester screening performance. Prenat Diagn 2002; 22: 893–897.

    Article  PubMed  Google Scholar 

  158. Bernstein L, Pike MC, Lobo RA, Depue RH, Ross RK, Henderson BE. Cigarette smoking in pregnancy results in marked decrease in maternal hCG and oestradiol levels. Br J Obstet Gynaecol 1989; 96: 92–96.

    Article  PubMed  CAS  Google Scholar 

  159. Palomaki GE, Knight GJ, Haddow JE, Canick JA, Wald NJ, Kennard A. Cigarette smoking and levels of maternal serum alpha-fetoprotein, unconjugated estriol, and hCG: impact on Down syndrome screening. Obstet Gynecol 1993; 81: 675–678.

    PubMed  CAS  Google Scholar 

  160. Benn PA. Advances in prenatal screening for Down syndrome: I. General principles and second trimester testing. Clin Chim Acta 2002; 323: 1–16.

    CAS  Google Scholar 

  161. Wald NJ, Watt HC. Serum markers for Down’ s syndrome in relation to number of previous births and maternal age. Prenat Diagn 1996; 16: 699–703.

    Article  PubMed  CAS  Google Scholar 

  162. Spong CY, Ghidini A, Stanley-Christian H, Meck JM, Seydel FD, Pezzullo JC. Risk of abnormal triple screen for Down syndrome is significantly higher in patients with female fetuses. Prenat Diagn 1999; 19: 337–339.

    Article  PubMed  CAS  Google Scholar 

  163. Sancken U, Bartels I. Preliminary data on an association between blood groups and serum markers used for the so-called “triple screening”: free oestriol MoM values are decreased in rhesus-negative (Rh-) women. Prenat Diagn 2001; 21: 194–195.

    Article  PubMed  CAS  Google Scholar 

  164. Larsen SO, Christiansen M, Nergaard-Pedersen B. Inclusion of serum marker measurements from a previous pregnancy improves Down syndrome screening performance. Prenat Diagn 1998; 18: 706–712.

    Article  PubMed  CAS  Google Scholar 

  165. Wald NJ, White N, Morris JK, Huttly WJ, Canick JA. Serum markers for Down’s syndrome in women who have had in vitro fertilisation: implications for antenatal screening. Br J Obstet Gynaecol 1999; 106: 1304–1306.

    Article  PubMed  CAS  Google Scholar 

  166. Hsu TY, Ou CY, Hsu JJ, Kung FT, Chang SY, Soong YK. Maternal serum screening for Down syndrome in pregnancies conceived by intra-uterine insemination. Prenat Diagn 1999; 19: 1012–1014.

    Article  PubMed  CAS  Google Scholar 

  167. Palomaki GE, Neveux LM, Haddow JE. Can reliable Down’s syndrome detection rates be determined from prenatal screening intervention trials? J Med Screen 1996; 3: 12–17.

    PubMed  CAS  Google Scholar 

  168. Haddow JF. Antenatal screening for Down’s syndrome: where are we, where next? Commentary on Snijders et al.1998. Lancet 1998; 351: 336–337.

    Article  Google Scholar 

  169. Wald NJ, Hackshaw AK, Huttly W, Kennard A. Empirical validation of risk screening for Down’s syndrome. J Med Screen 1996; 3: 185–187.

    PubMed  CAS  Google Scholar 

  170. Canick JA, Rish S. The accuracy of assigned risks in maternal serum screening. Prenat Diagn 1998; 18: 413–415.

    Article  PubMed  CAS  Google Scholar 

  171. Meier C, Huang T, Wyatt PR, Summers AM. Accuracy of expected risk of Down syndrome using the second-trimester triple test. Clin Chem 2002; 48: 653–655.

    PubMed  CAS  Google Scholar 

  172. Spencer K. Accuracy of Down syndrome risks produced in a first-trimester screening programme incorporating fetal nuchal translucency thickness and maternal serum biochemistry. Prenat Diagn 2002; 22: 244–246.

    Article  PubMed  Google Scholar 

  173. Palomaki GE, Haddow JE, Beauregard LJ. Prenatal screening for Down’s syndrome in Maine, 1980 to 1993. N Engl J Med 1996; 334: 1409–1410.

    Article  PubMed  CAS  Google Scholar 

  174. MacRae AR, Allen LC, Krishnan S, Lepage N, Quesnel R, Tokmakjian S. Maternal serum unconjugated estriol is cost-justified in screening for fetal trisomy. Clin Biochem 1999; 32: 308.

    Google Scholar 

  175. Carroll JC, Reid AJ, Woodward CA, et al. Ontario Maternal Serum Screening Program: practices, knowledge and opinions of health care providers. Can Med Assoc J 1997; 156: 775–784.

    CAS  Google Scholar 

  176. Allanson A, Michie S, Marteau TM. Presentation of screen negative results on serum screening for Down’s syndrome: variations across Britain. J Med Screen 1997; 4: 21–22.

    PubMed  CAS  Google Scholar 

  177. Marteau TM, Saidi G, Goodburn S, Lawton J, Michie S, Bobrow M. Numbers or words? a randomized controlled trial of presenting screen negative results to pregnant women. Prenat Diagn 2000; 20: 714–718.

    Article  PubMed  CAS  Google Scholar 

  178. Welkenhuysen M, Evers-Kiebooms G, d’Ydewalle G. The language of uncertainty in genetic risk communication: framing and verbal versus numerical information. Patient Educ Couns 2001; 43: 179–187.

    Article  PubMed  CAS  Google Scholar 

  179. Marteau TM, Cook R, Kidd J, et al. The psychological effects of false-positive results in prenatal screening for fetal abnormality: a prospective study. Prenat Diagn 1992; 12: 205–214.

    Article  PubMed  CAS  Google Scholar 

  180. Statham H, Green J. Serum screening for Down’s syndrome: some women’s experiences. Br Med J 1993; 307: 174–176.

    Article  CAS  Google Scholar 

  181. Goel V, Glazier R, Summers A, Holzapfel S. Psychological outcomes following maternal serum screening: a cohort study. Can Med Assoc J 1998; 159: 651–656.

    CAS  Google Scholar 

  182. Kornman LH, Wortelboer MJ, Beekhuis JR, Morssink LP, Matingh A. Women’s opinions and the implications of first versus second trimester screening for fetal Down’s syndrome. Prenat Diagn 1997; 17: 1011–1018.

    Article  PubMed  CAS  Google Scholar 

  183. Canick JA, Kellner LH, Cole LA, Cuckle HS. Urinary analyte screening: a noninvasive detection method for Down syndrome? Mol Med Today 1999; 5: 68–73.

    Article  PubMed  CAS  Google Scholar 

  184. Cole LA, Cermik D, Bahado-Singh R. Oligosaccharide variants of hCG-related molecules: potential screening markers for Down syndrome. Prenat Diagn 1997; 17: 1187–1190.

    Article  Google Scholar 

  185. Cole LA, Omrani A, Cermik D, Bahado-Singh RO, Mahoney MJ. Hyperglycosylated hCG: a potential alternative to hCG in Down syndrome screening. Prenat Diagn 1998; 18: 926–933.

    Article  PubMed  CAS  Google Scholar 

  186. Cole LA, Shahabi S, Oz UA, et al. Urinary screening tests for fetal Down syndrome: II. Hyperglycosylated hCG. Prenat Diagn 1999; 19: 351–359.

    Article  PubMed  CAS  Google Scholar 

  187. Vendely PM, Lu J, Plewnia J, et al. Measurement of second trimester maternal serum invasive trophoblast antigen (ITA) for Down syndrome (DS) screening. Clin Chem 2003; 49: A132.

    Google Scholar 

  188. Cuckle HS, Shahabi S, Sehmi IK, Jones R, Cole LH. Maternal urine hyperglycosylated hCG in pregnancies with Down syndrome. Prenat Diagn 1999; 19: 918–920.

    Article  PubMed  CAS  Google Scholar 

  189. Simpson JL, Elias S. Isolating fetal cells from maternal blood: advances in prenatal diagnosis through molecular technology. JAMA 1993; 270: 2357–2361.

    Article  PubMed  CAS  Google Scholar 

  190. Bianchi DW. Current knowledge about fetal cells in the maternal circulation. J Perinat Med 1998; 26: 175–185.

    PubMed  CAS  Google Scholar 

  191. Hahn S, Sant R, Holzgreve W. Fetal cells in maternal blood: current and future perspectives. Mol Hum Reprod 1998; 4: 515–521.

    Article  PubMed  CAS  Google Scholar 

  192. Bianchi DW, Williams JM, Sullivan LM, Hanson FW, Klinger KW, Shuber AP. PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies. Am J Hum Genet 1997; 61: 822–829.

    Article  PubMed  CAS  Google Scholar 

  193. Lo YMD, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485–487.

    Article  PubMed  CAS  Google Scholar 

  194. Lo YMD, Tein MSC, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998; 62: 768–775.

    Article  PubMed  CAS  Google Scholar 

  195. Lo YMD, Lau TK, Zhang J, et al. Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21. Clin Chem 1999; 45: 1747–1751.

    PubMed  CAS  Google Scholar 

  196. Lee T, LeShane ES, Messerlian GM, et al. Down syndrome and cell-free fetal DNA in archived maternal serum. Am J Obstet Gynecol 2002; 187: 1217–1221.

    Article  PubMed  Google Scholar 

  197. Xiao YZ, Burk MR, Troeger C, Jackson LR, Holzgreve W, Hahn S. Fetal DNA in maternal plasma is elevated in pregnancies with aneuploidy fetuses. Prenat Diagn 2000; 20: 795–798.

    Article  Google Scholar 

  198. Benn PA. Advances in prenatal screening for Down syndrome: II. First trimester testing, integrated testing, and future directions. Clin Chim Acta 2002; 324: 1–11.

    CAS  Google Scholar 

  199. Bayes-Genis A, Conover CA, Overgaard MT, et al. Pregnancy-associated plasma protein A as a marker of acute coronary syndromes. N Engl J Med 2001; 345: 1022–1029.

    Article  PubMed  CAS  Google Scholar 

  200. Wald NJ, Stone R, Cuckle HS, et al. First trimester concentrations of pregnancy associated plasma protein A and placental protein 14 in Down’s syndrome Br Med J. 1992; 305: 28.

    CAS  Google Scholar 

  201. Spencer K, Aitken DA, Crossley JA, et al. First trimester biochemical screening for trisomy 21: the role for free beta hCG, alpha fetoprotein and pregnancy associated plasma protein A. Ann Clin Biochem 1994; 31: 447–454.

    PubMed  Google Scholar 

  202. Brambati B, Tului L, Bonacchi I, Shrimanker K, Suzuki Y, Grudzinskas JG. Serum PAPP-A, free 13-hCG are first trimester screening markers for Down syndrome. Prenat Diagn 1994; 14: 1043–1047.

    Article  PubMed  CAS  Google Scholar 

  203. Wald NJ, George L, Smith D, Densem JW, Petterson K. Serum screening for Down’s syndrome between 8 and 14 weeks of pregnancy. Br J Obstet Gynaecol 1996; 103: 407–412.

    Article  PubMed  CAS  Google Scholar 

  204. Brizot ML, Snijders RJ, Bersinger NA, Kuhn P, Nicolaides KH. Maternal serum pregnancy-associated plasma protein A and fetal nuchal translucency thickness for the prediction of fetal trisomies in early pregnancy. Obstet Gynecol 1994; 84: 918–922.

    PubMed  CAS  Google Scholar 

  205. Haddow JE, Palomaki GE, Knight GJ, Williams J, Miller WA, Johnson A. Screening of maternal serum for fetal Down’s syndrome in the first trimester. N Engl J Med 1998; 338: 955–961.

    Article  PubMed  CAS  Google Scholar 

  206. Cuckle HS, van Lith JM. Appropriate biochemical parameters in first-trimester screening for Down syndrome. Prenat Diagn, 1999; 19: 505–512.

    Article  PubMed  CAS  Google Scholar 

  207. Bersinger NA, Brizot ML, Johnson A, et al. First trimester maternal serum pregnancy-associated plasma protein A and pregnancy-specific beta 1-glycoprotein in fetal trisomies. Br J Obstet Gynaecol 1994; 101: 970–974.

    Article  PubMed  CAS  Google Scholar 

  208. Cuckle H, Arbuzova S. The efficiency and clinical practicality of-multi-modality screening strategies. In: Macek M, Bianchi D, Cuckle H, eds. Early Prenatal Diagnosis, Fetal Cells and DNA in the mother: Proceedings of the 12th Fetal Cell Workshop. Prague: Charles University Press, 2002.

    Google Scholar 

  209. Hallahan T, Krantz D, Orlandi F, et al. First trimester biochemical screening for Down syndrome: free beta hCG versus intact hCG. Prenat Diagn, 2000; 20: 785–789.

    Article  PubMed  CAS  Google Scholar 

  210. Haddow JE, Palomaki GE, Knight GJ. Response to Hallahan et al. Prenat Diagn 2000; 20: 790–791.

    Article  PubMed  Google Scholar 

  211. Spencer K, Berry E, Crossley JA, Aitken DA, Nicolaides KH. Is maternal serum total hCG a marker of trisomy 21 in the first trimester of pregnancy? Prenat Diagn 2000; 20: 311–317.

    Article  PubMed  CAS  Google Scholar 

  212. Berry E, Aitken DA, Crossley JA, Macri JN, Conner JM. Screening for Down’s syndrome: changes in marker levels and detection rates between first and second trimesters. Br J Obstet Gynaecol 1997; 104: 811–817.

    Article  PubMed  CAS  Google Scholar 

  213. de Graaf IM, Cuckle HS, Pajkrt E, Leschot NJ, Bleker OP, van Lith JM. Co-variables in first trimester maternal serum screening. Prenat Diagn 2000; 20: 186–189.

    Article  PubMed  Google Scholar 

  214. Spencer K, Ong CYT, Liao AWJ, Nicolaides KH. The influence of ethnic origin on first trimester biochemical markers of chromosomal abnormalities. Prenat Diagn 2000; 20: 491–494.

    Article  PubMed  CAS  Google Scholar 

  215. Spencer K. The influence of smoking on maternal serum PAPP-A and free beta hCG levels in the first trimester of pregnancy. Prenat Diagn 1999; 19: 1065–1066.

    Article  PubMed  CAS  Google Scholar 

  216. Spencer K, Ong CY, Liao AW, Papademetriou D, Nicolaides KH. First trimester markers of trisomy 21 and the influence of maternal cigarette smoking status. Prenat Diagn 2000; 20: 852–853.

    Article  PubMed  CAS  Google Scholar 

  217. Bronshtein M, Rottem S, Yoffe N, Blumenfeld Z. First-trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: diverse prognosis of the septated from the nonseptated lesion. Am J Obstet Gynecol 1989; 161: 78–82.

    PubMed  CAS  Google Scholar 

  218. Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides K. Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet 2001; 358: 1665–1667.

    Article  PubMed  CAS  Google Scholar 

  219. Pandya PP, Snijders RJ, Johnson SP, De Lourdes Brizot M, Nicolaides KH. Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. Br J Obstet Gynaecol 1995; 102: 957–962.

    Article  PubMed  CAS  Google Scholar 

  220. Chitty LS, Pandya PP. Ultrasound screening for fetal abnormalities in the first trimester. Prenat Diagn 1997; 17: 1269–1281.

    Article  PubMed  CAS  Google Scholar 

  221. Devine PC, Malone FD. First trimester screening for structural abnormalities: nuchal translucency sonography. Semin Perinatol 1999; 23: 382–392.

    Article  PubMed  CAS  Google Scholar 

  222. Pajkrt E, Mol BW, Bleker OP, Bilardo CM. Pregnancy outcome and nuchal translucency measurements in fetuses with a normal karyotype. Prenat Diagn 1999; 19: 1104–1108.

    Article  PubMed  CAS  Google Scholar 

  223. Pandya PP, Kondylios A, Hilbert KH. Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses. Am J Med Genet 1995; 5: 15–19.

    CAS  Google Scholar 

  224. Hyett JA, Perdu M, Shariand GK, Snijders RS, Nicolaides KH. Increased nuchal translucency at 10–14 weeks of gestation as a marker for major cardiac defects. Ultrasound Obstet Gynecol 1997; 10: 242–246.

    Article  PubMed  CAS  Google Scholar 

  225. Snijders R, Smith E. The role of fetal nuchal translucency in prenatal screening. Curr Opin Obstet Gynecol 2002; 14: 577–585.

    Article  PubMed  Google Scholar 

  226. Souka AP, Krampi E, Bakalis S, Heath V, Nicolaides KH. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 2001; 18: 9–17.

    Article  PubMed  CAS  Google Scholar 

  227. Cullen MT, Gabrielli S, Green JJ, et al. Diagnosis and significance of cystic hygroma in the first trimester. Prenat Diagn 1990; 10: 643–651.

    Article  PubMed  CAS  Google Scholar 

  228. Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. Br Med J 1992; 304: 867–869.

    Article  CAS  Google Scholar 

  229. Pandya PP, Brizot ML, Kuhn P, Snijders RJ, Nicolaides KH. First-trimester fetal nuchal translucency thickness and risk for trisomies. Obstet Gynecol 1994; 84: 420–423.

    PubMed  CAS  Google Scholar 

  230. Pandya PP, Kondylios A, Hilbert L, Snijders RJ, Nicolaides KH. Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol 1995; 5: 15–19.

    Article  PubMed  CAS  Google Scholar 

  231. Snijders RJM, Johnson S, Sebire NJ, Noble PL, Nicolaides KH. First trimester ultrasound screening for chromosomal defects. Ultrasound Obstet Gynaecol 1996; 7: 216–226.

    Article  CAS  Google Scholar 

  232. Schuchter K, Wald N, Hackshaw AK, Hafner E, Liebhart E. The distribution of nuchal translucency at 10–13 weeks of pregnancy. Prenat Diagn 1998; 18: 281–286.

    Article  PubMed  CAS  Google Scholar 

  233. Faraut T, Cans C, Althuser M, Jouk PS. Combined use of nuchal translucency, gestational age and maternal age for evaluation of the risk of trisomy 21. [French] J Gynecol Obstet Biol Reprod (Paris) 1999; 28: 439–445.

    CAS  Google Scholar 

  234. Wald NJ, Hackshaw AK. Combining ultrasound and biochemistry in first-trimester screening for Down’s syndrome. Prenat Diagn 1997; 17: 821–829.

    Article  PubMed  CAS  Google Scholar 

  235. Snijders RJM, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation. Lancet 1998; 351: 343–346.

    Article  Google Scholar 

  236. Mo1 B W, Lijmer JG, van der Meulen J, Pajkrt E, Bilardo CM, Bossuyt PM. Effect of study design on the association between nuchal translucency measurement and Down syndrome. Obstet Gynecol 1999; 94: 864–869.

    Article  PubMed  CAS  Google Scholar 

  237. Chasen ST, Skupski DW, McCullough LB, Chervenak FA. Prenatal informed consent for sonogram: the time for first-trimester nuchal translucency has come. J Ultrasound Med 2001;20:1147–1152. Comments: J Ultrasound Med 2002; 21: 481–487.

    Google Scholar 

  238. Zoppi MA, Ibba RM, Floris M, Monni G. Fetal nuchal translucency screening in 12495 pregnancies in Sardinia. Ultrasound Obstet Gynecol 2001; 18: 649–651.

    Article  PubMed  CAS  Google Scholar 

  239. Crossley JA, Aitken DA, Cameron AD, McBride E, Connor JM. Combined ultrasound and biochemical screening for Down’s syndrome in the first trimester: a Scottish multicentre study. Br J Obstet Gynaecol 2002; 109: 667–676.

    Article  Google Scholar 

  240. Logghe H, Cuckle H, Sehmi I. Centre-specific ultrasound nuchal translucency medians needed for Down syndrome screening. Prenat Diagn 2003; 23: 389–392.

    Article  PubMed  CAS  Google Scholar 

  241. Edwards A, Mulvey S, Wallace EM. The effect of image size on nuchal translucency measurement. Prenat Diagn 2003; 23: 284–286.

    Article  PubMed  Google Scholar 

  242. Jou HJ, Wu SC, Li TC, Hsu HC, Tzeng CY, Hsieh FJ. Relationship between fetal nuchal translucency and crown-rump length in an Asian population. Ultraound Obstet Gynecol 2001; 17: 111–114.

    Article  CAS  Google Scholar 

  243. Chen M, Lam YH, Tang MH, et al. The effect of ethnic origin on nuchal translucency at 10–14 weeks of gestation. Prenat Diagn 2002; 22: 576–578.

    Article  PubMed  Google Scholar 

  244. Maymon R, Padoa E, Dreazen E, Herman A. Nuchal translucency measurements in consecutive normal pregnancies: is there a predisposition to increased levels? Prenat Diagn 2002; 22: 759–762.

    Article  PubMed  CAS  Google Scholar 

  245. Spencer K, Ong CY, Liao AW, Nicolaides KH. The influence of parity and gravidity on first trimester markers of chromosomal abnormality. Prenat Diagn 2000; 20: 792–794.

    Article  PubMed  CAS  Google Scholar 

  246. Monni G, Zoppi MA, Ibba RM. Absence of nasal bone and detection of trisomy 21. Lancet 2002; 359: 1343.

    Article  PubMed  Google Scholar 

  247. Otano L, Aiello H, Igarzabal L, Matayoshi T, Gadow EC. Association between first trimester absence of fetal nasal bone on ultrasound and Down syndrome. Prenat Diagn 2002; 22: 930–932.

    Article  PubMed  CAS  Google Scholar 

  248. De Biasio P, Venturini PL. Absence of nasal bone and detection of trisomy 21. Lancet, 2002; 359: 1344.

    Article  PubMed  Google Scholar 

  249. Cicero S, Bindra R, Rembouskos G, Spencer K, Nicolaides KH. Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free ß-hCG and PAPP-A at 11 to 14 weeks. Prenat Diagn 2003; 23: 306–310.

    Article  PubMed  Google Scholar 

  250. Whittle M. Down’s syndrome screening: where to now? Br J Obstet Gynaecol 2001; 108: 559–561.

    Article  CAS  Google Scholar 

  251. Hackshaw AK, Wald NJ, Haddow JE. Down’s syndrome screening with nuchal translucency. Lancet 1996; 348: 1740.

    Article  PubMed  CAS  Google Scholar 

  252. Cuckle HS. Growing complexity in the choice of Down’s syndrome screening policy. Ultrasound Obstet Gynecol 2002; 19: 323–326.

    Article  PubMed  CAS  Google Scholar 

  253. Nicolaides KH, Snijders RJ, Cuckle HS. Correct estimation of parameters for ultrasound nuchal translucency screening. Prenat Diagn 1998; 18: 519–523.

    Article  PubMed  CAS  Google Scholar 

  254. Bewley S, Roberts LJ, Mackinson AM, Rodeck CH. First trimester fetal nuchal translucency: problems with screening the general population. Br J Obstet Gynaecol 1995; 102: 386–388.

    Article  PubMed  CAS  Google Scholar 

  255. Hyett JA, Sebire NJ, Snijders RJM, Nicolaides KH. Intrauterine lethality of trisomy 21 fetuses with increased nuchal translucency thickness. Ultrasound Obstet Gynecol 1996; 7: 101–103.

    Article  PubMed  CAS  Google Scholar 

  256. Wald NJ. First-trimester nuchal translucency screening. J Ultrasound Med 2002; 21: 481.

    PubMed  Google Scholar 

  257. Noble PL, Abraha HD, Snijders RJ, Sherwood R, Nicolaides KH. Screening for fetal trisomy 21 in the first trimester of pregnancy: maternal serum free beta-hCG and fetal nuchal translucency thickness. Ultrasound Obstet Gynecol 1995; 6: 390–395.

    Article  PubMed  CAS  Google Scholar 

  258. Spencer K, Noble P, Snijders RJ, Nicolaides KH. First-trimester urine free beta hCG, beta core, and total oestriol in pregnancies affected by Down’s syndrome: implications for first-trimester screening with nuchal translucency and serum free beta hCG. Prenat Diagn 1997; 17: 525–538.

    Article  PubMed  CAS  Google Scholar 

  259. Brizot ML, Snijders RJ, Butler J, Bersinger NA, Nicolaides KH. Maternal serum hCG and fetal nuchal translucency thickness for the prediction of fetal trisomies in the first trimester of pregnancy. Br J Obstet Gynaecol 1995; 102: 127–132.

    Article  PubMed  CAS  Google Scholar 

  260. Spencer K, Spencer CE, Power M, Moakes A, Nicolaides KH. One stop clinic for risk assessment for fetal anomalies: a report of the first year of prospective screening for chromosome anomalies in the first trimester. Br J Obstet Gynaecol 2000; 107: 1271–1275.

    Article  CAS  Google Scholar 

  261. Wapner R, Thom E, Simpson JL, et al. First-trimester screening for trisomies 21 and 18. N Engl J Med 2003; 349: 1405–1413.

    Article  PubMed  CAS  Google Scholar 

  262. Hackshaw AK, Wald NJ. Estimation of risk in second trimester serum screening for Down syndrome among women who have already had first trimester screening. Prenat Diagn 2002; 22: 1051–1055.

    Article  PubMed  Google Scholar 

  263. Hackshaw AK, Wald NJ. Assessment of the value of reporting partial screening results in prenatal screening for Down syndrome. Prenat Diagn 2001; 21: 737–740.

    Article  PubMed  CAS  Google Scholar 

  264. Wald NJ, Watt HC, Hackshaw AK. Integrated screening for Down’s syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 1999; 341: 461–467.

    Article  PubMed  CAS  Google Scholar 

  265. Hook EB, Cross PK, Schreinemachers DM. Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA 1983; 249: 2034–2038.

    Article  PubMed  CAS  Google Scholar 

  266. Hook EB, Topol BB, Cross PK. The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of later fetal death associated with the 47,+21 and some other abnormal karyotypes. Am J Hum Genet 1989; 45: 855–861.

    PubMed  CAS  Google Scholar 

  267. Carter PE, Pearn JH, Bell J, Martin N, Anderson NG. Survival in trisomy 18. Clin Genet 1985; 27: 59–61.

    Article  PubMed  CAS  Google Scholar 

  268. Schneider AS, Mennuti MT, Zackai EH. High cesarean section rate in trisomy 18 births: a potential indication for late prenatal diagnosis. Am J Obstet Gynecol 1981; 140: 367–370.

    PubMed  CAS  Google Scholar 

  269. Canick JA, Palomaki GE, Osthanondh R. Prenatal screening for trisomy 18 in the second trimester. Prenat Diagn 1990; 10: 546–548.

    Article  PubMed  CAS  Google Scholar 

  270. Palomaki GE, Knight GJ, Haddow JE, Canick JA, Sailer DN Jr, Panizza DS. Prospective intervention trial of a screening protocol to identify fetal trisomy 18 using maternal serum alpha-fetoprotein, unconjugated oestriol, and human chorionic gonadotropin. Prenat Diagn 1992; 12: 925–930.

    Article  PubMed  CAS  Google Scholar 

  271. Palomaki GE, Haddow JE, Knight GJ, et al. Risk-based prenatal screening for trisomy 18 using alphafetoprotein, unconjugated oestriol and human chorionic gonadotropin. Prenat Diagn 1995; 15: 713–723.

    Article  PubMed  CAS  Google Scholar 

  272. Benn PA, Leo MV, Rodis JF, Beazoglou T, Collins R, Horne D. Maternal serum screening for fetal trisomy 18: a comparison of fixed cutoff and patient-specific risk protocols. Obstet Gynecol 1999; 93: 707–711.

    Article  PubMed  CAS  Google Scholar 

  273. Hogge WA, Fraer L, Melegari T. Maternal serum screening for fetal trisomy 18: benefits of patient-specific risk protocol. Am J Obstet Gynecol 2001; 185: 289–293.

    Article  PubMed  CAS  Google Scholar 

  274. Aitken DA, Wallace EM, Crossley JA, et al. Dimeric inhibin-A as a marker for Down’s syndrome in early pregnancy. N Engl J Med 1996; 334: 1231–1236.

    Article  PubMed  CAS  Google Scholar 

  275. Lambert-Messerlian GM, Sailer DN Jr, Tumber MB, French CA, Peterson CJ, Canick JA. Second trimester maternal serum inhibin A levels in fetal trisomy 18 and Turner syndrome with and without hydrops. Prenat Diagn 1998; 18: 1061–1067.

    PubMed  CAS  Google Scholar 

  276. Spencer K, Nicolaides KH. A first trimester trisomy 13/trisomy 18 risk algorithm combining fetal nuchal translucency thickness, maternal serum free beta-hCG and PAPP-A. Prenat Diagn 2002; 22: 877–879.

    Article  PubMed  Google Scholar 

  277. Sherod C, Sebire NJ, Soares W, Snijders RJM, Nicolaides KH. Prenatal diagnosis of trisomy 18 at the 10–14 week ultrasound scan. Ultrasound Obstet Gynecol 1997; 10: 387–390.

    Article  PubMed  CAS  Google Scholar 

  278. Tul N, Spencer K, Noble P, Chan C, Nicolaides K. Screening for trisomy 18 by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10–14 weeks of gestation. Prenat Diagn 1999; 19: 1035–1042.

    Article  PubMed  CAS  Google Scholar 

  279. Palomaki GE, Neveux LM, Knight GJ, Haddow JE. Maternal serum-integrated screening for trisomy 18 using both first-and second-trimester markers. Prenat Diagn 2003; 243–247.

    Google Scholar 

  280. Tint GS, Irons M, Elias ER, et al. Defective cholesterol biosynthesis associated with the Smith Lemli Opitz syndrome. N Engl J Med 1994; 30: 107–113.

    Article  Google Scholar 

  281. Smith DW, Lemli L, Opitz JM. A newly recognized syndrome of multiple congential anomalies. J Pediatr 1964; 64: 210–217.

    Article  PubMed  CAS  Google Scholar 

  282. Bradley LA, Palomaki GE, Knight GJ, et al. Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Am J Med Genet 1999; 82: 355–358.

    Article  PubMed  CAS  Google Scholar 

  283. Palomaki GE, Bradley LA, Knight GJ, Craig WY, Haddow JE. Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down’s syndrome. J Med Screen 2002; 9: 43–44.

    Article  PubMed  CAS  Google Scholar 

  284. Saller DN Jr, Canick JA, Schwartz S, Blitzer MG. Multiple-marker screening in pregnancies with hydropic and nonhydropic Turner syndrome. Am J Obstet Gynecol 1992; 167: 1021–1024.

    PubMed  Google Scholar 

  285. Laundon CH, Spencer K, Macri JN, Anderson RW, Buchanan PD. Free beta hCG screening of hydropic and non-hydropic Turner syndrome pregnancies. Prenat Diagn 1996; 16: 853–856.

    Article  PubMed  CAS  Google Scholar 

  286. Benn PA, Gainey A, Ingardia CJ, Rodis JF, Egan JFX. Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement. Prenat Diagn 2001; 21: 680–686.

    Article  PubMed  CAS  Google Scholar 

  287. Oyer CE, Canick JA. Maternal serum hCG levels in triploidy: variability and need to consider molar tissue. Prenat Diagn 1992; 12: 627–629.

    Article  PubMed  CAS  Google Scholar 

  288. Sailer DN Jr, Canick JA, Blitzer MG, et al. Second-trimester maternal serum analyte levels associated with fetal trisomy 13. Prenat Diagn 1999; 19: 813–816.

    Article  Google Scholar 

  289. Caritis S, Sibai B, Hauth J, et al. Low-dose aspirin to prevent preeclampsia in women at high risk. N Engl J Med 1998; 338: 701–705.

    Article  PubMed  CAS  Google Scholar 

  290. Levine RJ, Hauth JC, Curet LB, et al. Trial of calcium to prevent preeclampsia. N Engl J Med 1997; 337: 69–76.

    Article  PubMed  CAS  Google Scholar 

  291. Cuckle H, Sehmi I, Jones R. Maternal serum inhibin A can predict preeclampsia. Br J Obstet Gynaecol 1998; 105: 1101–1103.

    Article  PubMed  CAS  Google Scholar 

  292. Aquilina J, Barnett A, Thompson O, Harrington K. Second-trimester maternal serum inhibin A concentrations as an early marker for preeclampsia. Am J Obstet Gynecol 1999; 181: 131–136.

    Article  PubMed  CAS  Google Scholar 

  293. Lambert-Messerlian GM, Silver HM, Petraglia F, et al. Second-trimester levels of maternal serum human chorionic gonadotropin and inhibin A as predictors of preeclampsia in the third trimester of pregnancy. J Soc Gynecol Invest 2000; 7: 170–174.

    Article  CAS  Google Scholar 

  294. Wald NJ, Morris JK. Multiple marker second trimester serum screening for pre-eclampsia. J Med Screen 2001; 8: 65.

    Article  PubMed  CAS  Google Scholar 

  295. Gross SJ, Phillips OP, Shulman LP, et al. Adverse perinatal outcome in patients screen-positive for neural tube defects and fetal Down syndrome. Prenat Diagn 1994; 14: 609–613.

    Article  PubMed  CAS  Google Scholar 

  296. Pergament E, Stein AK, Fiddler M, Cho NH, Kupferminc MJ. Adverse pregnancy outcome after a false-positive screen for Down syndrome using multiple markers. Obstet Gynecol 1995; 86: 255–258.

    Article  PubMed  CAS  Google Scholar 

  297. Wilkins-Haug L. Unexplained elevated maternal serum alpha-fetoprotein: what is the appropriate follow-up? Cuff Opin Obstet Gynecol 1998; 10: 469–474.

    Article  CAS  Google Scholar 

  298. Huerta-Enochian G, Katz V, Erfurth S. The association of abnormal alpha-fetoprotein and adverse pregnancy outcome: does increased fetal surveillance affect pregnancy outcome? Am J Obstet Gynecol 2001; 184: 1549–1553.

    Article  PubMed  CAS  Google Scholar 

  299. Balion CM, MacRae AR. Assay-dependent differences in the population distributions of five unconjugated estriol methods, and their effect on prenatal screening performance. Am J Human Genet 2000;67:A 1344.

    Google Scholar 

  300. Sancken U, Bartels I, Louwen F, Eiben B. A retrospective evaluation of second-trimester serum screening for fetal trisomy 18: experience of two laboratories. Prenat Diagn 1999; 19: 947–954.

    Article  PubMed  CAS  Google Scholar 

  301. Sancken U, Bahner D. The effect of thermal instability of intact human chorionic gonadotropin (ihCG) on the application of its free beta-subunit (free beta hCG) as a serum marker in Down syndrome screening. Prenat Diagn 1995; 15: 731–738.

    Article  PubMed  CAS  Google Scholar 

  302. Tokmakejian SD, Haines MDS, Chan MK, MacRae AR. Development and validation of an extended-range hCG assay on the Technicon Immuno 1 analyser. In: proceedings of the 5th Technicon Immuno 1 International Symposium, Paris, France; 1996;86. Wilton, CT: Chase Medical Communications.

    Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2004 Humana Press, Totowa, NJ

About this chapter

Cite this chapter

MacRae, A.R., Canick, J.A. (2004). Maternal Prenatal Screening for Fetal Defects. In: Gronowski, A.M. (eds) Handbook of Clinical Laboratory Testing During Pregnancy. Current Clinical Pathology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-787-1_5

Download citation

  • DOI: https://doi.org/10.1007/978-1-59259-787-1_5

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-4684-9862-2

  • Online ISBN: 978-1-59259-787-1

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics