Trends in the use of prenatal diagnosis in New York State and the impact of biochemical screening on the detection of Down syndrome: 1984-1993

Prenatal Diagnosis

Volumn 17, Issue 12, 1997, Pages 1113-1124

  Olsen, Carolyn L ^a   Cross, Philip K ^b  

^a STATE UNIVERSITY OF NEW YORK   (United States)

^b NEW YORK STATE DEPARTMENT OF HEALTH   (United States)

Author keywords

Amniocentesis; Biochemical screening; Chorionic villus sampling; Prenatal diagnosis

Indexed keywords

ALPHA FETOPROTEIN; BIOCHEMICAL MARKER; CHORIONIC GONADOTROPIN; ESTRADIOL;

ADULT; AMNIOCENTESIS; ARTICLE; CHORION VILLUS SAMPLING; CHROMOSOME ANALYSIS; DOWN SYNDROME; FEMALE; FIRST TRIMESTER PREGNANCY; HUMAN; MAJOR CLINICAL STUDY; MATERNAL AGE; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; SCREENING TEST;

ADULT; AMNIOCENTESIS; CHORIONIC VILLI SAMPLING; DOWN SYNDROME; FEMALE; FETAL DISEASES; HUMANS; MASS SCREENING; NEW YORK; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; REGISTRIES;

EID: 0031467063     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199712)17:12<1113::AID-PD200>3.0.CO;2-7     Document Type: Article

References (64)

1. American College of Obstetrics and Gynecology, Committee on Obstetric Practice (1994). Committee opinion on Down syndrome screening, Washington, DC: American College of Obstetrics and Gynecology.
2. Baird, P.A., Sadovnick, A.D., McGillivray, B.C. (1985). Temporal changes in the utilization of amniocentesis for prenatal diagnosis by women of advanced maternal age, 1976-1983, Prenat. Diagn., 5, 191-198.
3. Bogart, M.H., Pandian, M.R., Jones, O.W. (1987). Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities, Prenat. Diagn., 7, 623-630.
4. Brambati, B., Simoni, G., Travi, M., Dunesino, C., Tului, L., Privitera, O., Stioui, S., Tedeschi, S., Russo, S., Primignani, P. (1992). Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: efficiency, reliability and risks on 317 completed pregnancies, Prenat. Diagn., 12, 789-799.
5. Brandenburg, H., Gho, C.G., Jahoda, M.G.J., Stijnen, T., Bakker, H., Wladimiroff, J.W. (1992). Effect of chorionic villus sampling on utilization of prenatal diagnosis in women of advanced maternal age, Clin. Genet., 41, 239-242.
6. Burton, B.K. (1991). CVS and limb anomalies, Perspect. Genet. Couns., 13, 10.
7. Canadian Collaborative CVS-Amniocentesis Clinical Trial Group (1989). Multicentre randomized clinical trial of chorionic villus sampling and amniocentesis, Lancet, 1, 1-6.
8. Carlson, D.E., Platt, L.D. (1992). Ultrasound detection of genetic anomalies, J. Reprod Med., 37, 419-426.
9. Christiaens, G.C.M.L., Van Baarlen, J., Leschot, N.J. (1989). Fetal limb constriction: a possible complication of CVS, Prenat. Diagn., 9, 67-71.
10. Crandall, B.F., Chua, C. (1996). Detecting neural tube defects by amniocentesis between eleven and fifteen weeks' gestation, Prenat. Diagn., 75, 339-343.
11. Crandall, B.F., Lebherz, T.B., Tabash, K. (1986). Maternal age and amniocentesis: should this be lowered to 30 years?, Prenat. Diagn., 6, 237-242.
12. Crossley, J.A., Aitken, D.A., Connor, J.M. (1991). Prenatal screening for chromosome abnormalities using maternal serum chorionic gonadotropin, alpha-fetoprotein, and age, Prenat. Diagn., 11, 83-101.
13. Cuckle, H.S., Wald, N.J. (1990). Biochemical screening, Curr. Opinion Obstet. Gynecol., 2, 246-252.
14. Cuckle, H.S., Wald, N.J., Lindenbaum, R.H. (1984). Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome, Lancet, 1, 926-929.
15. Diaz Vega, M., DeLa Cueva, P., Leal, C., Aisa, F. (1996). Early amniocentesis at ten to twelve weeks' gestation, Prenat. Diagn., 16, 307-312.
16. Dolk, H., Bertrand, F., Lechat, M.F., for the EUROCAT Working Group (1992). Chorionic villus sampling and limb abnormalities, Lancet, 399, 876-877.
17. Drugan, A., O'Brien, J.E., Gambino, R.S., Evans, M.I. (1992). Prenatal biochemical screening, J. Reprod. Med., 37, 403-409.
18. Evans, M.I., Johnson, M.P. (1992). Prenatal diagnosis in the '90s. A symposium, J. Reprod. Med., 37, 387-388.
19. Evans, M.I., Johnson, M.P., Holzgreve, W. (1992). Chorionic villus sampling, J. Reprod. Med., 37, 389-394.
20. Firth, H.V., Boyd, P.A., Chamberlain, P., MacKenzie, I.Z., Lindenbaum, R.H., Huson, S.M. (1991). Severe limb abnormalities after chorionic villus sampling at 56-66 days' gestation, Lancet, 337, 762-763.
21. French, B.N., Kurczynski, T.W., Weaver, M.T., Pituch, M.J. (1992). Evaluation of the health belief model and decision making regarding amniocentesis in women of advanced maternal age, Health Educ. Q., 19, 177-186.
22. Fuchs, F. (1985). The future of genetic amniocentesis, Progress in Clinical and Biological Research, New York: Alan R. Liss, 163B, 177-182.
23. Haddow, J.E., Palomaki, G.E., Knight, G.J., Williams, J., Pulkkinen, A., Canick, J.A., Saller, D.N., Jr, Bowers, G.B. (1992). Prenatal screening for Down syndrome with the use of maternal serum markers, N. Engl. J. Med., 327, 588-593.
24. Haddow, J.E., Palomaki, G.E., Knight, G.J., Cunningham, G.C., Lustig, L.S., Boyd, P.A. (1994). Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening, N. Engl. J. Med., 330, 1114-1152.
25. Hecher, K., Snijders, R., Nicolaides, K. (1993). Screening for fetal chromosomal abnormalities by maternal serum biochemistry and ultrasound examination of fetal morphology, Curr. Opinion Obstet Gynecol., 5, 170-178.
26. Henry, G.P., Miller, W.A. (1992). Early amniocentesis, J. Reprod. Med., 37, 396-402.
27. Hook, E.B. (1978). Spontaneous deaths of fetuses with chromosomal abnormalities detected prenatally. N. Engl J. Med., 299, 1036-1038.
28. Hook, E.B., Schreinemachers, D.M. (1983). Trends in utilization of prenatal cytogenetic diagnosis by New York State residents in 1979 and 1980, Am. J. Public Health, 73, 196-202.
29. Hook, E.B., Cross, P.K., Schreinemachers, D.M. (1981). Evolution of the New York State Chromosome Registry. In: Hook, E.B., Porter, T.H. (Eds). Population and Biological Aspects of Human Mutation, New York: Academic Press, 389-428.
30. Hook, E.B., Schreinemachers, D.M., Cross, P.K. (1981). Use of prenatal cytogenetic diagnosis in New York State, N. Engl. J. Med., 305, 1410-1413.
31. Hook, E.B., Topol, B., Cross, P.K. (1989). The natural history of cytogenetically abnormal fetuses detected at mid trimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes. Am. J. Hum. Genet., 45, 855-861.
32. Hook, E.B., Mutton, D.E., Ide, R., Alberman, E., Bobrow, M. (1995). The natural history of Down syndrome conceptuses diagnosed prenatally that are not electively terminated. Am. J. Hum. Genet., 59, 875-881.
33. Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S., Wapner, R.J. and the U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group (1992). A randomized comparison of transcervical and transabdominal chorionic-villus sampling, N. Engl. J. Med., 327, 594-598.
34. Jahoda, M.G.J., Brandenburg, H., Cohen-Overbeek, T., Los, F.J., Sachs, E.S., Wladimiroff, J.W. (1993). Terminal transverse limb defects and early chorionic villus sampling: evaluation of 4300 cases with completed follow-up, Am. J. Med. Genet., 46, 483-485.
35. Johnson, A., Godmilow, L. (1988). Genetic amniocentesis at 14 weeks or less, Clin. Obstet. Gynecol., 31, 345-352.
36. Kaffe, S., Hsu, L.Y.F. (1992). Maternal serum-fetoprotein screening and fetal chromosome anomalies: is lowering maternal age for amniocentesis preferable?, Am. J. Med. Genet., 42, 801-806.
37. Kloza, E. (1990). Low MSAFP and new biochemical markers for Down syndrome: implications for genetic counselors, Birth Defects Orig. Artic. Ser., 26, 31-43.
38. Knight, G.J., Palomaki, G.E., Haddow, J.E. (1988). Use of maternal serum alpha-fetoprotein measurements to screen for Down syndrome, Clin. Obstet. Gynecol., 31, 306-327.
39. Knutson, C., Young, S.R., Wade, R.V., Best, R.G. (1989). Utilization of amniocentesis and chorionic villus sampling by South Carolina women 35 years of age and older, J. S. Carolina Med. Assoc., 85, 463-467.
40. Kuliev, A.M., Modell, B., Jackson, L., Simpson, J.L., Brambati, B., Rhoads, G., Froster, U., Verlinsky, Y., Smidt-Jensen, S., Holzgreve, W., Ginsberg, N., Ammala, P., Dumez, Y. (1993). Risk evaluation of CVS, Prenat. Diagn., 113, 197-209.
41. Kuppermann, M., Gates, E., Washington, A.E. (1996). Racial-ethnic differences in prenatal diagnostic test use and outcomes: preferences, socioeconomics or patient knowledge?, Obstet. Gynecol., 87, 675-682.
42. McDonough, P.A. (1990). The diffusion of genetic amniocentesis in Ontario: 1969-1987, Can. J. Public Health, 81, 431-435.
43. Marchese, S.G. (1994). Maternal serum screening for aneuploidy: a substitution for prenatal cytogenetics in older mothers?, Genet. Practice, 1, 2-4.
44. Marfatia, L., Punales-Morejon, D., Rapp, R. (1990). Counseling the under served: when an old reproductive technology becomes a new reproductive technology, Birth Defects Orig. Artic. Ser., 26, 431-435.
45. Merkatz, I.R., Nitowsky, H.M., Macri, J.N., Johnson, W.E. (1984). An association between low maternal serum-fetoprotein and fetal chromosomal abnormalities, Am. J. Obstet. Gynecol., 146, 886-894.
46. Naber, J.M., Huether, C.A., Goodwin, B.A. (1987). Temporal changes in Ohio amniocentesis utilization during the first twelve years (1972-1983), and frequency of chromosome abnormalities observed, Prenat. Diagn., 7, 51-65.
47. New York State Department of Health (1990). Vital Statistics of New York State, 1990.
48. Olsen, C.L., Cross, P.K. (1996). The effects of prenatal diagnosis, population ageing and changing fertility rates on the live birth prevalence of Down syndrome in New York State, 1983-1992, Prenat. Diagn., 16, 991-1002.
49. Palomaki, G.E., Knight, G.J., Haddow, J.E., Canick, J.A., Saller, D.N., Panizza, D.S. (1992). Prospective intervention trial of a screening protocol to identify fetal trisomy 18 using maternal serum alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin, Prenat. Diagn., 12, 925-930.
50. Pauker, S.P., Pauker, S.G. (1994). Prenatal diagnosis -why is 35 a magic number?, N. Engl. J. Med., 330, 1151-1152.
51. Phillips, O.P., Elias, S., Shulman, L.P., Andersen, R.N., Morgan, C.D., Simpson, J.L. (1992). Maternal serum screening for fetal Down syndrome in women less than 35 years of age using alpha-fetoprotein, hCG, and unconjugated estriol: a prospective 2-year study, Obstet. Gynecol., 80, 353-358.
52. Planteydt, H.T., van de Vooren, M.J., Verweij, H. (1986). Amniotic bands and malformations in child born after pregnancy screened by chorionic villus biopsy, Lancet, 2, 756-757.
53. Rae, J.B., Parlington, M.W., Turner, G. (1989). The utilization of antenatal diagnosis by women of advanced maternal age in the New England Health Region, New South Wales, Med. J. Aust., 151, 720.
54. Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., et al. (1989). The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities, N. Engl. J. Med., 320, 609-617.
55. Schloo, R., Miny, P., Holzgreve, W., Horst, J., Lenz, W. (1992). Distal limb deficiency following chorionic villus sampling?, Am. J. Med. Genet., 42, 404-413.
56. Silver, R.K., MacGregor, S.N., Sholl, J.S., Hobart, E.D., Waldee, J.K. (1990). An evaluation of the chorionic villus sampling learning curve, Am. J. Obstet. Gynecol., 163, 917-922.
57. Sjogren, B. (1996). Psychological indicators for prenatal diagnosis, Prenat. Diagn., 16, 449-454.
58. Staples, A.J., Robertson, E.F., Ranieri, E., Ryall, R.G., Haan, E.A. (1991). A maternal serum screen for trisomy 18: an extension of maternal serum screening for Down syndrome, Am. J. Hum. Genet., 49, 1025-1033.
59. Stone, J.L., Lockwood, C.J. (1993). Amniocentesis and chorionic villus sampling, Curr. Opinion Obstet. Gynecol., 5, 211-217.
60. Thayer, B., Braddock, B., Spitzer, K., Miller, W. (1990). Clinical and laboratory experience with early amniocentesis, Birth Defects Orig. Artic. Ser., 26, 58-63.
61. Wald, N.J., Kennard, A. (1992). Prenatal biochemical screening for Down syndrome and neural tube defects, Curr. Opinion Obstet. Gynecol., 4, 302-307.
62. Wald, N.J., Cuckle, H.S., Densem, J.W., Nanchahal, K., Royston, P., Chard, T., Haddow, J.E., Knight, G.J., Palomaki, G.E., Canick, J.A. (1988). Maternal serum screening for Down syndrome in early pregnancy, Br. Med. J., 297, 883-887.
63. Wisconsin State Laboratory of Hygiene (1997). Home Page http://www.slh.wisc.edu/tris18.html.
64. Wright, D.J., Brindley, B.A., Koppitch, F.C., Drugan, A., Johnson, M.P., Evans, M.I. (1989). Interpretation of chorionic villus sampling laboratory results is just as reliable as amniocentesis, Obstet. Gynecol., 74, 739-744.