Biochemical screening for congenital defects

Obstetrics and Gynecology Clinics of North America

Volumn 31, Issue 4, 2004, Pages 857-872

  Bahado Singh, Ray O ^a   Sutton Riley, Jaime ^b  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; CA 125 ANTIGEN; CHORIONIC GONADOTROPIN BETA SUBUNIT; INHIBIN A; PLASMA PROTEIN; PREGNANCY ASSOCIATED PLASMA PROTEIN A;

ABDOMINAL WALL DEFECT; CONGENITAL DISORDER; DOWN SYNDROME; FIRST TRIMESTER PREGNANCY; HUMAN; PREGNANCY; PRIORITY JOURNAL; REVIEW; SCREENING TEST; SECOND TRIMESTER PREGNANCY; TRISOMY 18; TROPHOBLAST;

ABDOMINAL WALL; BIOLOGICAL MARKERS; CHORIONIC GONADOTROPIN; CHROMOSOMES, HUMAN, PAIR 18; DOWN SYNDROME; FEMALE; HUMANS; INHIBINS; NEURAL TUBE DEFECTS; PREGNANCY; PREGNANCY TRIMESTERS; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; PRENATAL DIAGNOSIS; TRISOMY;

EID: 8844233519     PISSN: 08898545     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ogc.2004.08.010     Document Type: Review

References (71)

1. I.R. Merkatz, H.M. Nitowsky, J.N. Macri, and W.E. Johnson An association between low maternal serum alpha-feto protein and fetal chromosomal abnormalities Am J Obstet Gynecol 148 1984 886 894
2. A. Baumgarten AFP screening and Down syndrome Lancet I 1985 751
3. N.J. Wald, A. Kennard, A. Hackenshaw, and A. McGuire Antenatal screening for Down's syndrome Health Technol Assess (Rockv) 2 1998 9 32
4. M.H. Bogart, M.R. Pandian, and O.W. Jones Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities Prenat Diagn 7 1987 623 630
5. J.A. Canick, G.J. Knight, G.E. Palomaki, J.E. Haddow, H.S. Cuckle, and N.J. Wald Low second trimester maternal serum unconjugated oestriol in pregnancies with Down syndrome Br J Obstet Gynecol 95 1988 330 333
6. P.A. Benn Advances in prenatal screening for Down syndrome: I. General principles and second trimester testing Clinica Chimica Acta 323 2002 1 16
7. H.S. Cuckle, S. Holding, R. Jones, E.M. Wallace, and N.P. Groome Maternal serum dimeric inhibin A in second-trimester Down's syndrome pregnancies Prenat Diagn 15 1995 385 392
8. D.A. Aitken, E.M. Wallace, J.A. Crossley, I.A. Swanston, Y. van Pereren, and M. van Maarle Dimeric inhibin A as a marker for Down's syndrome in early pregnancy N Engl J Med 334 1996 1231 1236
9. K. Spencer, E.M. Wallace, and S. Ritoe Second trimester dimeric inhibin-A in Down's syndrome screening Prenat Diagn 16 1996 1101 1110
10. H. Cuckle, S. Holding, and R. Jones Combining inhibin-A with existing second-trimester markers in maternal serum screening for Down's syndrome Prenat Diagn 16 1996 1095 1100
11. E.M. Wallace, I.A. Swanston, A.S. McNeilly, J.P. Ashby, G. Blundell, and A.A. Calder Second trimester screening for Down's syndrome using maternal serum dimeric inhibin-A Clin Endocrinol 44 1996 17 21
12. K.D. Wenstrom, J. Owen, D.C. Chu, and L. Boots Elevated second-trimester dimeric inhibin-A levels identify Down's syndrome pregnancies Am J Obstet Gynecol 177 1997 992 996
13. Y.H. Lam, and H.Y. Tang Second-trimester maternal serum inhibin-A screening for fetal Down's syndrome in Asian women Prenat Diagn 19 1999 463 467
14. N.J. Wald, J.W. Densem, L. George, S. Muttukrishna, P.G. Knight, and H. Watt Inhibin-A in Down's syndrome pregnancies: revised estimate of standard deviation Prenat Diagn 17 1997 285 290
15. S. Stone, R. Henely, T. Reynolds, and R. John A comparison of total and free β-hCG assays in Down syndrome screening Prenat Diagn 13 1993 535 537
16. J.N. Macri, R.V. Kasturi, D.A. Kreintz, E.J. Cook, N.D. Moore, and J.A. Young Maternal serum Down's syndrome screening: free β-protein is a more effective marker than human chorionic gonadotropin Am J Obstet Gynecol 163 1990 1248 1253
17. K. Spencer, and J.N. Macri Early detection of Down's syndrome using free beta human choriogonadotropin Ann Clin Biochem 29 1992 349 350
18. K. Spencer, E.J. Coombes, A.S. Mallard, and A.M. Ward Free beta human choriogonadotropin in Down's syndrome screening: a multicenter study of its role compared with other biochemical markers Ann Clin Biochem 29 1992 506 518
19. R.G. Ryall, A.J. Staples, E.F. Robertson, and A.C. Pollard Improved performance in a prenatal screening programme for Down's syndrome incorporating serum-free hCG subunit analyses Prenat Diagn 12 1992 251 261
20. B. Norgaard-Pederson, H. Alfthan, J. Arends, C.K. Hogdall, S.O. Larsen, and K. Pettersson A new simple and rapid dual assay for AFP and free β-hCG in screening for Down's syndrome Clin Genet 45 1994 1 4
21. K. Spencer Second trimester prenatal screening for Down's syndrome using alpha-fetoprotein and free beta hCG: a seven year review Br J Obstet Gynecol 106 1999 1287 1293
22. J.H. Check, N. Kosrow, M. Vaze, R. Wapner, and L. Seefried Very high CA 125 levels during early first trimester in three cases of spontaneous abortion with chromosomal abnormalities Am J Obstet Gynecol 162 1990 674 675
23. M. Van Blerk, J. Smitz, L. de Catte, C. Kimps, J. Van der Elst, and A.C. Van Steirteghem Second-trimester cancer antigen 125 and Down's Syndrome Prenat Diagn 12 1992 1062 1066
24. K. Spencer Maternal serum CA 125 is not a second trimester marker for Down's Syndrome Ann Clin Biochem 28 1991 299 300
25. J.M.M. Van Lith, A. Mantingh, H.W.A. de Bruijn Dutch Working Party on Prenatal Diagnosis Maternal serum CA125 levels in pregnancies with chromosomally-normal and abnormal fetuses Prenat Diagn 13 1993 1123 1131
26. H.S. Cuckle, N.J. Wald, S.F. Goodburn, J. Sneddon, and J.A.L. Amess Measurement of activity of urea resistant neutrophil alkaline phosphatase as an antenatal screening test for Down's Syndrome Br Med J 301 1990 1024 1026
27. J. Grozdea, A. Maret, and H. Vergnes Cytochemical and biochemical studies on neutrophil alkaline phosphatase in parents of trisomy 21 children Hum Genet 67 1984 313 316
28. T. Tafas, H.S. Cuckle, S. Nasr, E.L. Krivchenia, E. Resvani, and M.I. Evans An automated image analysis method for the measurement of neutrophil alkaline phosphatase in the prenatal screening of Down Syndrome Fetal Diagn Ther 11 1996 254 259
29. L. Peleg, L. Ries, V. Getslev, A. Lusky, R. Chaki, and S. Lipitz Heat stable and urea resistant alkaline phosphataase in maternal neurophils from normal and Down syndrome pregnancy Prenatal Diagn 19 1999 224 228
30. J. Amano, R. Nishimura, M. Mochizuki, and A. Kobata Comparative study of the mucin-type sugar chains of human chorionic gonadotropin present in the urine of patients with trophoblastic diseases and healthy pregnant women J Biol Chem 263 1988 1157 1165
31. M.M. Elliott, A. Kardana, J.W. Lustbader, and L.A. Cole Carbohydrate and peptide structure of the α- and β-subunits of human chorionic gonadotropin from normal and aberrant pregnancy and choriocarcinoma Endocrine 7 1997 15 32
32. G. Kovaleskaya, O. Genbacev, S.J. Fisher, E. Caceres, and J.F. O'Connor Trophoblast origin of hCG isoforms: cytotrophoblasts are the primary source or choriocarcinoma-like hCG Mol Cell Endocrinol 94 2002 147 155
33. Z.M. Lei, D.D. Taylor, C. Gercel-Taylor, and C.V. Rao Human chorionic gonadotropin promotes tumorigenesis of choriocarcinoma JAR cells Troph Res 13 1999 147 159
34. L.A. Cole, S. Shahabi, K.M. Rinne, U.A. Oz, R.O. Bahado-Singh, and M.J. Mahoney Urinary screening tests for fetal Down sndrome: II. Hyperglycosylated hCG Prenat Diagn 19 1999 351 359
35. L.A. Cole, S. Shahabi, U.A. Oz, R.O. Bahado-Singh, and M.J. Mahoney Hyperglycosylated human chorionic gonadotropin (invasive trophoblast antigen) immunoassay: a new basis for gestational Down syndrome screening Clin Chem 45 1999 2109 2119
36. N. Massin, J.L. Frendo, D. Luton, Y. Govagrandi, F. Muller, and M. Vidaud Defect of syncytiotrophoblast formation and hCG expression in Down's syndrome Placenta 22 2001 S93 S97
37. J.L. Frendo, M. Vidaud, J. Guibourdenche, D. Luton, F. Muller, and D. Belet Defect of villous cytotrophoblast differentiation in syncytiotrophoblast in Down's syndrome J Clin Endocr Metab 85 2000 3700 3707
38. D. Evain-Brion, J.L. Frendo, M. Vidaud, and F. Muller Failure of differentiation of the trophoblast in trisomy 21 Bull Acad Natl Med 184 2000 1033 1045
39. S. Birken, A. Krichevsky, J. O'Connor, J. Schlatterer, L.A. Cole, and A. Kardana Development and characterization of antibodies to a nicked and hyperglycosylated form of hCG from a choriocarcinoma patient: generation of antibodies that differentiate between pregnancy hCG and choriocarcinoma hCG Endocrine 10 1999 137 144
40. J.F. O'Connor, N. Ellish, T. Kakuma, J. Schlatterer, and G. Kovalevskaya Differential urinary gonadotrophin profiles in early pregnancy and early pregnancy loss Prenat Diagn 18 1998 1232 1240
41. R. Pandian, J. Lu, and J. Ossolinska-Plewnia A fully automated chemiluminometric assay for hyperglycosylated hCG (invasive trophoblast antigen ITA) Clin Chem 49 2003 808 810
42. S. Shahabi, K. Rinne, U.A. Oz, R.O. Bahado-Singh, M.J. Mahoney, and A. Omrani Serum hyperglycosylated hCK a potential screening test for fetal Down syndrome Prenat Diagn 19 1999 488 489
43. P.M. Vendely, J. Lu, and J. Plenia Measurement of serum invasive trophoblast antigen (ITA) for Down Syndrome (DS) screening Clin Chem 49 2003 A132
44. J.N. Weinans, S.A. Butler, A. Mantingh, and L.A. Cole Urinary hyperglycosylated hCG in first-trimester screening for chromosomal abnormalities Prenat Diagn 20 2000 976 978
45. Strom C.M., Palomaki G.E., Knight G.J., et al. Maternal urine Invasive Trophoblast Antigen (ITA) is a useful marker for Down syndrome in the 1st trimester. Presented at the 51st Annual Meeting of the American Society of Hum Gen. San Diego, 2001
46. J.M. Sutton, and L.A. Cole Sialic acid-deficient invasive trophoblast antigen (sd-ITA): a new urinary variant for gestational down syndrome screening Prenat Diagn 24 2004 194 197
47. S. Imamura, G.A. Armstrong, S. Birken, L.A. Cole, and R.E. Canfield Detection of desialylated forms of human chorionic gonadotropin Clin Chim Acta 163 1987 339 349
48. L.A. Cole, A. Kardana, S.Y. Park, and G.D. Braunstein The deactivation of hCG by nicking and dissociation J Clin Endocrinol Metab 76 1993 704 710
49. H.S. Cuckle, N.J. Wald, and G. Barkai First trimester biochemical screening for Down's syndrome Lancet 8615 1988 851 852
50. N.J. Wald, A. Kennard, and A.K. Hackshaw First trimester serum screening for Down's syndrome Prenat Diagn 15 1995 1227 1240
51. H.S. Cuckle, and J.M. van Lith Appropriate biochemical parameters in the first trimester screening for Down syndrome Prenat Diagn 19 1999 505 512
52. N.J. Wald, A. Kennard, A. Hackshaw, and A. McGuire Antenatal screening for Down's syndrome Health Technol Assess 2 1998 49 61
53. N.J. Wald first and second trimester antenatal screening for Down's syndrome: the results of the serum, urine and ultrasound screening study (SURUSS) Health Technol Assess 7 2003 11 34
54. N.J. Wald, E. Rodeck, and A.K. Hakenshaw First and second trimester antenatal screening for Down's Syndrome: the results of the serum, urine and ultrasound screening study (SURUSS) J Med Screen 10 2003 56 104
55. J.A. Canick, and L.H. Kellner First trimester screening for aneuploidy: serum biochemical markers Semin Perinatol 5 1999 359 368
56. B. Brambati, A. Lanzania, and L. Tului Ultrasound and biochemical assessment of first trimester pregnancy M. Chapman J.G. Gridzinskas T. Chard The embryo: normal and abnormal development and growth 1991 Springer-Verlag London 181 194
57. N.J. Wald, R. Stone, H.S. Cuckle, and J.G. Grudzinskas First trimester concentrations of pregnancy associated plasma protein A and placental protein 14 in Down's Syndrome BMJ 305 1992 28
58. B. Brambati, M.C.M. Macintosh, B. Teisner, S. Maguiness, K. Shrimanker, and A. Lanzani Low maternal serum levels of pregnancy placental protein A (PAPP-A) in the first trimester in association with abnormal fetal karyotype Br J Obstet Gynecol 100 1993 324 326
59. N.J. Wald, A. Kennard, and A.K. Hackshaw First trimester serum screening for Down's syndrome Prenat Diagn 15 1995 1227 1240
60. H. Cuckle Integrating antenatal Down's syndrome screening Curr Opin Obstet Gynecol 13 2001 175 181
61. R. Wapner, E. Thom, J.L. Simpson, E. Pergament, R. Silver, and S.K. Filkin First-trimester screening for trisomies 21 and 18 N Engl J Med 349 2003 1405 1413
62. N.J. Wald, H.C. Watt, and A.K. Hackshaw Integrated screening forDown's Syndrome based on tests performed during the first and second trimesters N Engl J Med 341 1999 461 467
63. J.A. Copel, and R.O. Bahado-Singh Prenatal screening for Down syndrome-A search for family's values New Engl J Med 341 1999 521 522
64. A.J. Staples, E.F. Robertson, E. Ranieri, R.G. Ryall, and E.A. Haan A maternal serum screen for Trisomy 18: an extension of maternal serum screening for Down syndrome Am J Hum Genet 49 1991 1025 1033
65. G.E. Palomaki, J.E. Haddow, G.H. Knight, N.J. Wald, A. Kennard, and J.A. Canick Risk-based prenatal screening for trisomy is using alpha-fetoprotein, unconjugated oeestriol and human chronic gonadotropin Prenat Diagn 15 1995 713 723
66. P.A. Benn, M.V. Leo, J.F. Rodis, T. Beazoiglou, R. Collins, and D. Horne Maternal serum screening for fetal trisomy 18: a comparison of fixed cutoff and patient-specific protocols Obstet Gynecol 93 1999 707 711
67. V. Sancken, I. Bartels, F. Louwen, and B. Eiben A retrospective evaluation of second-trimester serum screening for fetal trisomy 18: Experience of two laboratories Prenat Diagn 19 1999 947 954
68. P.A. Benn, J. Ying, T. Beasoglou, and J.F.X. Egan 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 2001 46 51
69. F. Muller Prenatal biochemical screening for neural tube defects Childs Nerve Syst 19 2003 433 435
70. F.S. Jorgensen, L. Valentin, K.A. Salvesen, F.R. Jensen, and K. Bang Multiscan-A Scandiniavian multicenter second trimester obstetric ultrasound and serum screening study Acta Obstet Gynecol Scand 78 1999 501 510
71. A. Milunsky, S.S. Jick, and C.L. Bruell Predictive values, relative risks and overall benefits of high and low maternal serum α-feto protein screening in singleton pregnancies: new epidemiologic data Am J Obstet Gynecol 161 1989 291