Biochemical screening for aneuploidy

Expert Review of Obstetrics and Gynecology

Volumn 2, Issue 6, 2007, Pages 765-773

  Evans, Mark I ^a   Cuckle, Howard S ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

aneuploidy; biochemical screening; free hCG; nuchal translucency; PAPP A; prenatal diagnosis

Indexed keywords

EID: 77950033876     PISSN: 17474108     EISSN: 17474116     Source Type: Journal    
DOI: 10.1586/17474108.2.6.765     Document Type: Article

References (41)

1. Hook EB. Down syndrome rates and relaxed selection at older maternal ages. Am. J. Hum. Genet. 35, 1307–1313 (1983).
2. Cuckle HS, Arbuzova S. Epidemiology of aneuploidy. In: Prenatal Diagnosis. Evans MI, Jonson MP, Yaron Y, Drugan A (Eds). McGraw Hill Publishing Co., NY, USA, 19–32 (2006).
3. Evans MI, Galen RS, Drugan A. Biochemical screening. In: Prenatal Diagnosis. Evans MI, Jonson MP, Yaron Y, Drugan A (Eds). McGraw Hill Publishing Co., NY, USA, 277–288 (2006).
4. Cuckle HS, Wald NJ, Barkai G et al. Frist trimester biochemical screening for Down syndrome between 8 and 14 weeks of gestation. Lancet 2, 851–852 (1988).
5. Snijders RJ, Noble P, Sebire N et al. 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 351, 343– 359 (1998).
6. Wapner RJ, Thom E, Simpson JL et al. First trimester serum biochemistry and fetal nuchal translucency screening (BUN) study group: First trimester nuchal translucency for trisomies 21 and 18. N. Engl. J. Med. 349, 1405–1413 (2003).
7. Merkatz IR, Nitowsky FM, Macri JN, Johnson WE. An association between low maternal serum α-fetoprotein and fetal chromosome abnormalities. Am. J. Obstet. Gynecol. 148, 886–894 (1984).
8. Cuckle HS, Wald NJ, Lindenbaum RH. Maternal serum α-fetoprotein measurement: a screening test for Down syndrome. Lancet 28, 926–929 (1984).
9. Nyberg DA, Kramer D, Resta RG et al. Prenatal monographic findings of trisomy 18: review of 47 cases. J. Ultrasound Med. 2, 103–113 (1993).
10. Evans MI, Krantz DA, Hallahan TW, Galen RS. Meta-analysis of first trimester Down syndrome screening studies: free β human chorionic gonadotropin significantly outperforms intact human chorionic gonadotropin in a multimarker protocol. Am. J. Obstet. Gynecol. 196, 198–205 (2007).
11. Benn PA, Ying J, Beazoglou T, Egan JF. Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification and double-positive results. Prenat. Diagn. 21 (1), 46–51 (2001).
12. Wald NJ, Kennard A, Hackshaw A, McGuire A. Antenatal screening for Down’s syndrome. Health Technol. Assess. 2 (1), 1–112 (1998).
13. Wald NJ, Rodeck DH, Hackshaw AK et al. SURUSS Research Group: first and second trimester antenatal screening for Down syndrome; the results of the serum, urine, and ultrasound screening study (SURUSS). Health Technol. Assess. 7, 1–7 (2003).
14. Wald NJ, Cuckle HS, Densem JW et al. Maternal serum screening for Down syndrome in early pregnancy. Br. Med. J. 297, 883–887 (1988).
15. Cheng EY, Luthy DA, Zebelman AM, Williams MA, Lieppman RE, Hickok DE. A prospective evaluation of a second-trimester screening test for fetal Down syndrome using maternal serum α-fetoprotein, hCG, and unconjugated estriol. Obstet. Gynecol. 81, 72–77 (1993).
16. Aitken DA, McCaw G, Crossley JA et al. First-trimester biochemical screening for fetal chromosome abnormalities and neural tube defects. Prenat. Diagn. 13, 681–683 (1993).
17. Rodriguez L, Sanchez R, Hernandez J, Carrillo L, Oliva J, Heredero L. Results of 12 years’ combined maternal serum α-fetoprotein screening and ultrasound fetal monitoring for prenatal detection of fetal malformations in Havana City, Cuba. Prenat. Diagn. 17 (4), 301–304 (1997).
18. Wald N, Densem J, Stone R, Cheng R. The use of free β hCG in antenatal screening for Down’s syndrome. Br. J. Obstet. Gynaecol. 100, 550–557 (1993).
19. Cuckle H, Benn P, Wright D. Down syndrome screening in the first and/or second trimester: model predicted performance using meta-analysis parameters. Semin. Perinatol. 29, 252–257 (2005).
20. Cuckle H, Aitken D, Goodburn S, Senior B, Spencer K, Standing S. Age-standardisation for monitoring performance in Down’s syndrome screening programmes. Prenat. Diagn. 24 (11), 851–856 (2004).
21. Yaron Y, Hamby DD, O’Brien JE et al. The combination of elevated maternal serum α-fetoprotein and low estriol is highly predictive of anencephaly. Am. J. Med. Genet. 75, 297–299 (1998).
22. Cuckle HS, Iles RK, Chard T. Urinary β-core human chorionic gonadotropin: a new approach to Down’s syndrome screening. Prenat. Diagn. 14, 953–958 (1994).
23. Tafas T, Evans MI, Cuckle HS et al. An automated image analysis method for the measurement of neutrophil alkaline phosphatase in the prenatal screening of Down syndrome. Fetal Diagn. Ther. 11, 254–260 (1996).
24. Cole LA, Khanlian SA, Sutton JM, Davies S, Stephens ND. Hyperglycosylated hCG (invasive trophoblast antigen, ITA) a key antigen for early pregnancy detection. Clin. Biochem. 36 (8), 647–655 (2003).
25. Cuckle HS, Canick JA, Kellner LH. Collaborative study of maternal urine β-core human chorionic gonadotropin screening for Down syndrome. Prenat. Diagn. 19 (10), 911–917 (1999).
26. Elias S, Simpson JL. Prospects for prenatal diagnosis by isolating fetal cells from maternal blood. Contemp. Rev. Obstet. Gynaecol. 7, 135–139 (1995).
27. Herzenberg LA, Bianchi DW, Schroder J. Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting. Proc. Natl Acad. Sci. USA 76, 1453–1455 (1979).
28. Bianchi DW, Simpson JL, Jackson LG et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. Prenat. Diagn. 22, 609–615 (2002).
29. Lo YM, Corbetta N, Chamberlain PF, Rai V et al. Presence of fetal DNA in maternal plasma and serum. Lancet 350, 485–487 (1997).
30. Huang DJ, Zimmerman BG, Holzgreve W, Hahn S. Improvement of methods for the isolation of cell-free fetal DNA from maternal plasma: comparison of a manual and automated method. Ann. NY Acad. Sci. 1075, 308–312 (2006).
31. Benacerraf BR, Barss VA, Laboda LA. A sonographic sign for the detection in the second trimester of the fetus with Down’s syndrome. Am. J. Obstet. Gynecol. 151 (8), 1078–1079 (1985).
32. Bromley B, Benacerraf BR. Sonographic markers for aneuploidy. In: Prenatal Diagnosis. Evans MI, Jonson MP, Yaron Y, Drugan A (Eds). McGraw Hill Publishing Co., NY, USA, 309–330 (2006).
33. Cusick W, Buchanan P, Hallahan TW, Krantz DA, Larsen JW Jr, Macri JN. Combined first-trimester versus second-trimester serum screening for Down syndrome: a cost analysis. Am. J. Obstet. Gynecol. 188 (3), 745–751 (2003).
34. Muller F, Benattar C, Audibert F, Roussel N, Dreux S, Cuckle H. First-trimester screening for Down syndrome in France combining fetal nuchal translucency measurement and biochemical markers. Prenat. Diagn. 23 (10), 833–836 (2003).
35. Nicolaides KH, Bindra R, Heath V, Cicero S. One-stop clinic for assessment of risk of chromosomal defects at 12 weeks of gestation. J. Matern. Fetal Neonatal Med. 12, 9–18 (2002).
36. 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. 109 (6), 667–676 (2002).
37. Evans MI, Wapner RJ, Bui TH. Future directions in genomic revolution and obstetrics and gynecology. Balliere’s Obstet. Gynecol. 16, 757–759 (2002).
38. Malone FD, Canick JA, Ball RH et al. First trimester or second trimester screening, or both, for Down syndrome. N. Engl. J. Med. 353, 2068–2070 (2005).
39. Canick JA, Lambert-Messerlian GM et al. Comparison of serum markers in first trimester screening for Down syndrome. Obstet. Gynecol. 108, 1192–1199 (2006).
40. Nicolaides KH, Spencer K, Avgidou F, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75,821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet. Gynecol. 25, 221–226 (2005).
41. Laigaard J, Spencer K, Christiansen M, Cowans NJ, Olesen Larsen S. ADAM 12 as a first-trimester maternal serum marker in screening for Down syndrome. Prenat. Diagn. 26, 973–979 (2006).