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Biochemical screening for Down’s syndrome in the first trimester of pregnancy

Published online by Cambridge University Press:  10 October 2008

MCM Macintosh*
Affiliation:
Department of Reproductive Physiology, St Bartholomew’s Hospital Medical College, London, UK.
T Chard
Affiliation:
Department of Reproductive Physiology, St Bartholomew’s Hospital Medical College, London, UK.
*
Dr MCM Macintosh, Department of Reproductive Physiology, St Bartholomew’s Hospital Medical College, London ECIA 7BE, UK.

Extract

Down’s syndrome (DS) is the commonest single cause of severe mental retardation and accounts for just under a third of all cases. Until the late 1980’s population screening was based on offering amniocentensis to older women. This made little impact on the prevalence of DS because the majority (approximately 70%) of babies with DS are born to women under the age of 35 (Figure 1).

Type
Articles
Copyright
Copyright © Cambridge University Press 1993

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References

1Mutton, DE, Ide, R, Alberman, E, Bobrow, M. Analysis of national register of Down’s syndrome in England and Wales: trends in prenatal diagnosis, 1989–91. Br Med J 1993; 306: 431–32.CrossRefGoogle ScholarPubMed
2Wald, NJ, Cuckle, HS, Densem, J, Nanchal, K, Royston, P, Chard, T et al. Maternal serum screening for Down’s syndrome in early pregnancy. Br Med J 1988; 297: 883–87.CrossRefGoogle ScholarPubMed
3Wald, NJ, Kennard, A, Densem, JW, Cuckle, HS, Chard, T, Butler, L. Antenatal maternal serum screening for Down’s syndrome: results of a demonstration project. Br Med J 1992; 305: 391–93.CrossRefGoogle ScholarPubMed
4Haddow, JE, Palomaki, GE, Knight, GJ, Williams, J, Pulkkinen, A, Canick, JA et al. Prenatal screening for Down’s syndrome with use of maternal serum markers. New Eng J Med 1992; 327 (9): 588–93.CrossRefGoogle ScholarPubMed
5Chard, T, Lilford, R. How useful is a test? In: Studd, J ed. Progress in obstetrics and gynaecology. Edinburgh: Churchill Livingstone, 1991: 315.Google Scholar
6Hook, EB, Cross, PK, Jackson, L, Pergament, E, Brambati, B. Maternal age specific rates of 47, +21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: comparison with rates expected from observations at amniocentesis. Am J Hum Genet 1988; 42: 797807.Google ScholarPubMed
7Hook, EB. Rates of Chromosome abnormalities at different maternal ages. Obstet Gynecol 1981; 58: 282–85.Google ScholarPubMed
8Ferguson-Smith, MA, Yates, JRW. Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52, 965 amniocenteses. Prenat Diagn 1984; 4: 544.CrossRefGoogle Scholar
9Brambati, B, Simoni, G, Bonacchi, I, Piceni, L. Fetal chromosomal aneuploidies and maternal serum alpha-fetoprotein levels in first trimester. Lancet 1986; ii: 165–66.CrossRefGoogle Scholar
10Barkai, G, Shaki, R, Pariente, C, Goldman, B. First trimester alpha-fetoprotein levels in normal and chromosomally abnormal pregnancies. Lancet 1987; ii: 389.CrossRefGoogle Scholar
11Milunsky, A, Wands, J, Brambati, B, Bonachi, I, Currie, K. First trimester maternal serum alpha-fetoprotein screening for chromosome defects. Am J Obstet Gynecol 1988; 159: 1209–13.CrossRefGoogle ScholarPubMed
12Cuckle, HS, Wald, NJ, Furhrmann, W, Altland, K, Brambati, B, Knight, G et al. First trimester biochemical screening for Down syndrome. Lancet 1988; ii: 851–52.CrossRefGoogle Scholar
13Mantingh, A, Marrink, J, de Wolf, B, Breed, ASPM, Beekhuis, JR, Visser, JHR. Low maternal serum alpha-fetoprotein at ten weeks gestation and fetal Down’s syndrome. Br J Obstet Gynaecol 1989; 96: 499500.CrossRefGoogle Scholar
14Brock, DJH, Barron, L, Holloway, S, Liston, WA, Hillier, SG, Seppala, M. First-trimester maternal serum biochemical indicators in Down syndrome. Prenat Diagn 1990; 10: 245–51.CrossRefGoogle ScholarPubMed
15Nebiolo, L, Ozturk, M, Brambati, B, Miller, S, Wands, J, Milunsky, A. First trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects. Prenat Diagn 1990; 10: 575–81.CrossRefGoogle ScholarPubMed
16Wenger, D, Miny, P, Holzgreve, W, Fuhrmann, W, Atland, K. First trimester maternal serum alpha-fetoprotein screening for Down Syndrome and other aneuploidies. Am J Med Genet Suppl 1990; 7: 8990.Google ScholarPubMed
17Crandall, BF, Golbus, MS, Goldberg, J, Matsumoto, M. First trimester maternal serum unconjugated oestriol and alpha-fetoprotein in fetal Down’s syndrome. Prenat Diagn 1991; 11: 377–80.CrossRefGoogle ScholarPubMed
18van Lith, JMM, for the Dutch working party on prenatal diagnosis. First trimester screening for fetal chromosome abnormalities. Preliminary results. Prenat Diagn 1991; 11: 621–24.CrossRefGoogle ScholarPubMed
19Aitken, DA, McCaw, G, Crossley, JA, Berry, E, Connor, M, Spencer, K et al. First-trimester biochemical screening for fetal chromosome abnormalities and neural tube defects. Prenat Diagn 1993; in press.CrossRefGoogle ScholarPubMed
20Wald, N, Cuckle, H. Biochemical screening. In: Brock, DJH, Rodeck, C eds. Prenatal diagnosis and screening. Edinburgh: Churchill Livingstone, 1992: 563–77.Google Scholar
21Chard, T. Pregnancy tests: a review. Hum Repord 1992; 7: 701–10.CrossRefGoogle ScholarPubMed
22Fan, C, Goto, S, Furuhasi, Y, Tomoda, T. Radioimmunoassay of the serum free beta subunit of human chorionic gonadotrophin in trophoblastic disease. J Clin Endocrinol Metab 1987; 64: 313–18.CrossRefGoogle ScholarPubMed
23Norman, RJ, Buck, RH, De Meideros, SF. Measurement of human chorionic gonadotrophin (hCG): indications and techniques for the clinical laboratory. Ann Clin Biochem 1990; 27: 183–94.CrossRefGoogle ScholarPubMed
24Macri, JN, Kasturi, RV, Krantza, DA, Cook, EJ, Moore, ND, Young, JA 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: 1248–53.CrossRefGoogle ScholarPubMed
25Spencer, K. Evaluation of an assay of the free beta-subunit of choriogonadotropin and its potential value in screening for Down’s syndrome. Clin Chem 1991; 37: 809–14.CrossRefGoogle ScholarPubMed
26Spencer, K, Macri, JN. Early detection of Down’s syndrome using free beta human choriogonadotropin. Ann Clin Biochem 1992; 29: 349–50.CrossRefGoogle ScholarPubMed
27Spencer, K, Coombes, EJ, Mallard, AS, Milford Ward, A. Free beta human choriogonadotropin in Down’s syndrome screening: a multicentre study of its role compared with other biochemical markers. Ann Clin Biochem 1992; 29: 506–18.CrossRefGoogle ScholarPubMed
28Gau, G, Rice, A, Chard, T. Increase of hCG levels following heating of serum. J Obstet Gynaecol 1984; 5: 2123.CrossRefGoogle Scholar
29Kardana, A, Cole, LA. Polypeptide nicks cause erroneous results in essays of human chorionic gonadotropin free ²-subunit. Clin Chem 1992; 38: 2633.CrossRefGoogle Scholar
30Ozturk, M, Milunsky, A, Brambati, B, Sachs, ES, Miller, SL, Wands, JR. Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18. Am J Med Genet 1990; 36: 480–83.CrossRefGoogle ScholarPubMed
31Bogart, MH, Golbus, MS, Sorg, ND, Jones, OW. Human chorionic gonadotropin levels in pregnancies with aneuploid fetuses. Prenat Diagn 1989; 9: 379–84.CrossRefGoogle ScholarPubMed
32Kratzer, PG, Golbus, MS, Finkelstein, DE, Taylor, RN. Trisomic pregnancies have normal human chorionic gonadotropin bioactivity. Prenat Diagn 1991; 11: 16.CrossRefGoogle ScholarPubMed
33 van Lith JMM for the Dutch working party on prenatal diagnosis. First-trimester maternal serum human chorionic gonadotropin as a marker for fetal chromosome disorders. Prenat Diagn 1992; 12: 495504.CrossRefGoogle Scholar
34Spencer, K, Macri, JN, Aitken, DA, Connor, JM. Free beta (hCG) is a first trimester marker for fetal trisomy. Lancet 1992; 339: 1480.CrossRefGoogle ScholarPubMed
35Macri, JN, Spencer, K, Aitken, D, Garver, K, Buchanan, PD, Muller, F et al. First-trimester free beta (hCG) screening for Down Syndrome. Prenat Diagn 1993; in press.CrossRefGoogle ScholarPubMed
36Macintosh, MCM, Iles, R, Teisner, B, Sharma, K, Chard, T, Grudzinskas, JG et al. Human chorionic gonadotrophin (infact, ± and free ²) and pregnancy associated plasma protein A, markers at 8 to 14 weeks for fetal Down’s syndrome. Prenat Diagn 1993; in press.Google Scholar
37Chard, T, Grudzinskas, JG. The endocrinology of the fetoplacental unit in the second trimester of pregnancy. In: Chapman, M, Grudzinskas, G, Chard, T eds. The embryo. London: Springer-Verger, 1991: 209–26.CrossRefGoogle Scholar
38Reynolds, T, John, R. Comparison of assay kits for unconjugated estriol shows that expressing results as multiples of the median causes unacceptable variation in calculated risk factors for Down’s syndrome. Clin Chem 1992; 38: 1888–93.CrossRefGoogle Scholar
39Stabile, I, Grudzinskas, JG, Chard, T. Clinical applications of pregnancy protein estimations with particular reference to Pregnancy-Associated Plasma Protein A (PAPP-A). Obstet Gynecol 1988; 43: 7382.Google ScholarPubMed
40Brambati, B, Macintosh, MCM, Teisner, B, McGuiness, S, Shrimanker, K, Lanzani, A et al. Low maternal serum levels of Pregnancy-Associated plasma protein A (PAPP-A) in the first trimester in association with abnormal fetal karyotype. Br J Obstet Gynaecol 1993; 100: 324–26.CrossRefGoogle ScholarPubMed
41Wald, N, Stone, R, Cuckle, HS, Grudzinskas, JG, Barkai, G, Brambati, B 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.CrossRefGoogle ScholarPubMed
42Brambati, B, Macintosh, MCM, Teisner, B, Chard, T, Grudzinskas, JG. Pregnancy-Associated plasma protein A (PAPP-A) in the first trimester in association with abnormal fetal karyotype. In preparation.Google Scholar
43Aitken, DA, Spencer, K, Macri, JN, Anderson, R, Connor, JM. PAPP-A as a marker of trisomy 21 in the first trimester. Clin Chem 1993; 39: 1993.Google Scholar
44Cuckle, H, Lilford, FJ, Teisner, B, Holding, S, Chard, T, Grudzinskas, JG. Pregnancy associated plasma protein A in Down’s syndrome. Br Med J 1992; 305: 425.CrossRefGoogle ScholarPubMed
45Wald, N, Voller, A. Pregnancy associated plasma protein A in Down’s syndrome. Br Med J 1992; 305: 425.CrossRefGoogle ScholarPubMed
46Knight, GJ, Palomaki, GE, Haddow, JE, Miller, W, Bersinger, NA, Schneider, H. Pregnancy associated plasma protein A as a marker for Down syndrome in the second trimester of pregnancy. Prenat Diagn 1993; 13: 222–23.CrossRefGoogle ScholarPubMed
47Pettersson, KSI, Norgaard-Pedersen, B, Stenman, UH, Stigbrand, T. Optimization of immunometric assays for the measurement of PAPP-A first trimester samples from normal and trisomy 21 pregnancies. In: Endocrinology and metabolism in human reproduction, screening for Down’s syndrome (fourth conference) 1993; 46.Google Scholar
48Bartels, I, Lindemann, A. Maternal levels of pregnancy-specific ² 1-glycoprotein (SP-1) are elevated in pregnancies affected by Down’s syndrome. Hum Genet 1988; 80: 4648.CrossRefGoogle Scholar
49Wald, NJ, Cuckle, HS, Densem, J. Maternal serum specific beta 1-glycoprotein in pregnancies associated with Down’s syndrome. Lancet 1989; ii: 450.CrossRefGoogle Scholar
50Petrocik, E, Wassman, ER, Lee, JL, Kelly, JC. Second trimester maternal serum pregnancy specific ²-1 glycoprotein (SP1) levels in normal and Down Syndrome pregnancies. Am J Med Genet 1990; 37: 114–18.CrossRefGoogle Scholar
51Macintosh, MCM, Brambati, B, Chard, T, Grudzinskas, JG. First trimester serum Schwangerschaftsprotein 1 (SP1) in pregnancies associated with chromosomal anomalies. Prenat Diagn 1993; in press.CrossRefGoogle Scholar
52van Lith, JMM, Mantingh, A, Beekhuis, JR, de Bruijn, HWA. First trimester CA 125 and Down’s syndrome. Br J Obstet Gynaecol 1991; 98: 493–94.CrossRefGoogle ScholarPubMed
53Hogdall, CK, Hogdall, EVS, Arends, J, Norgaard-Pedersen, B, Smidt-Jensen, S, Larsen, SO. CA-125, as a maternal serum marker for Down’s syndrome in the first and second trimesters. Prenat Diagn 1992; 12: 223–27.CrossRefGoogle ScholarPubMed
54van Lith, JMM, Mantingh, A, de Bruijn for the Dutch working party on prenatal diagnosis. Maternal serum Ca 125 levels in pregnancies with chromosomally normal and abnormal fetuses. Prenat Diagn 1992; 12: S165.Google Scholar
55Norton, ME, Golbus, MS. Maternal serum CA 125 for aneuploidy detection in early pregnancy. Prenat Diagn 1992; 12: 779–81.CrossRefGoogle ScholarPubMed
56van Lith, JMM, Pratt, JJ, Beekhuis, JR, Mantingh, A. Second trimester maternal serum immunoreactive inhibin as a marker for fetal Down’s syndrome. Prenat Diagn 1992; 12: 801806.CrossRefGoogle ScholarPubMed
57Canick, JA, Palomaki, GE, Osathanondh, R. Prenatal screening for trisomy 18 in the second trimester. Prenat Diagn 1990; 10: 546–48.CrossRefGoogle ScholarPubMed
58Greenberg, F, Schmidt, D, Darnule, AT, Wayland, BR, Rose, E, Alpert, E. Maternal serum ±-fetoprotein, ²-human chorinic gonadotropin, and unconjugated estriol levels in midtrimester trisomy 18 pregnancies. Am J Obstet Gynecol 1992; 166: 1388–92.CrossRefGoogle Scholar
59 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; i: 1323–32.Google Scholar
60Cuckle, HS. Measuring unconjugated estriol in maternal serum to screen for fetal Down syndrome. Clin Chem 1992; 38: 1687–89.CrossRefGoogle ScholarPubMed
61Bartels, I, Thiele, M, Bogart, MH. Maternal serum hCG and SPI levels in pregnancies with fetal aneuploidy. Am J Med Genet 1990; 37: 261–64.CrossRefGoogle Scholar
62Graham, GW, Crossley, JA, Aitken, DA, Connor, JM. Variation in the levels of pregnancy-specific ²-1-glycoprotein in maternal serum from chromosomally abnormal pregnancies. Prenat Diagn 1992; 12: 505–12.CrossRefGoogle ScholarPubMed
63Benacerraf, BR, Gelmann, R, Frigoletto, FD. Sonographic identification of second trimester fetuses with Down’s syndrome. N Engl J Med 1987; 317: 1371–76.CrossRefGoogle ScholarPubMed
64Nicolaides, KH, Snijders, RJM, Gosden, CM, Berry, J, Campbell, S. Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet 1992; 340: 704707.CrossRefGoogle ScholarPubMed
65Wald, 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: 144–49.CrossRefGoogle ScholarPubMed
66Nicolaides, 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: 867–69.CrossRefGoogle ScholarPubMed
67Brandenburg, H, Gho, CG, Jahoda, MG, Stijen, T, Bakker, H, Wladimiroff, JW. Effect of chorionic villus sampling on utilization of prenatal diagnosis in women of advanced maternal age. Clin Genet 1992; 41: 239–42.CrossRefGoogle ScholarPubMed
68Collaborative studies on chorionic villus sampling in North America. Prenat Diagn 1992; 5: 313476.Google Scholar
69 Medical Research Council Working Party. Medical Research Council European Trial of chorionic villus sampling. Lancet 1991; 337: 1422–23.Google Scholar
70Fleming, C, Goldie, DJ. Risk of Down’s syndrome and amniocentesis rate. Br Med J 1992; 304: 252.CrossRefGoogle ScholarPubMed
71Nicholson, A, Alberman, E. Prediction of the number of Down’s syndrome infants to be born in England and Wales up to the year 2000 and their likely survival rates. J Intellect Disability Res 1992; 36: 505–17.CrossRefGoogle Scholar
72Knott, PD, Penketh, RJA, Lucas, MK. Uptake of amniocentesis in women aged 38 years or more by the time of the expected date of delivery: a two year retrospective study. Br J Obstet Gynaecol 1986; 93: 1246–50.CrossRefGoogle ScholarPubMed