Correspondence

Prenatal Screening for Down's Syndrome in Maine, 1980 to 1993

N Engl J Med 1996; 334:1409-1410May 23, 1996

Article

To the Editor:

Prenatal screening and diagnostic services for fetal Down's syndrome have been offered to women since the early 1970s, when reliable techniques of chromosome analysis became available. Screening was initially based only on the pregnant woman's age but has been broadened in recent years, first with the discovery of maternal serum alpha-fetoprotein1,2 and then with the discovery of additional maternal serum markers.3,4 Although it has been possible to document the number of pregnant women who choose certain prenatal screening services,5 little information is available about the use of diagnostic services, including decisions about terminating or continuing affected pregnancies.

Table 1Table 1Results of Prenatal Screening for Down's Syndrome in Maine between 1980 and 1993. shows the use of prenatal screening and diagnostic services for Down's syndrome in Maine between 1980 and 1993. Before 1986, screening was based on maternal age, and amniocentesis was offered to women 35 years old or older. Between 1986 and 1990, serum screening based on alpha-fetoprotein measurements was also offered, but only to women younger than 35. Between 1991 and 1993, screening for multiple serum markers replaced screening for alpha-fetoprotein,4 and some women who were 35 or older opted for this screening test rather than amniocentesis.

Table 1 also shows the expected numbers of live-born infants with Down's syndrome in each of these intervals and compares them with the numbers of cases ascertained through vital statistics, cytogenetic laboratory records, and physicians' reports (after adjustment of the ascertained values to account for spontaneous fetal losses occurring between 18 weeks of gestation and full term). The estimated and ascertained numbers are similar. (Also shown are the percentages of infants with Down's syndrome born to women younger than 35.) In the first six years, 9 cases of Down's syndrome were identified prenatally, as compared with 35 in the next five years and 40 in the final three years. Termination of pregnancy was chosen in 89, 83, and 92 percent of these pregnancies during the three periods, respectively, and the overall prevalence of Down's syndrome among live births was reduced by 7, 23, and 46 percent, respectively.

Approximately two thirds of all pregnant women in Maine choose serum screening; that figure has remained stable for several years and is consistent with data from other established programs. Given the voluntary nature of prenatal screening and diagnostic services, which provide the opportunity for individual decision making at each step, it is likely that the findings in the period from 1991 to 1993 reflect the maximal participation that might be expected when services have become well established in a given region.

Glenn E. Palomaki, B.S.
James E. Haddow, M.D.
Foundation for Blood Research, Scarborough, ME 04074

Laurent J. Beauregard, Ph.D.
Eastern Maine Medical Center, Bangor, ME 04401

5 References

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Citing Articles (13)

Citing Articles

1. 1

   Karen L. Lawson, Sheena A. Walls-Ingram. (2010) Selective Abortion for Down Syndrome: The Relation Between the Quality of Intergroup Contact, Parenting Expectations, and Willingness to Terminate. Journal of Applied Social Psychology 40:3, 554-578
   CrossRef

2. 2

   Helen Harrison. (2008) The offer they can't refuse: parents and perinatal treatment decisions. Seminars in Fetal and Neonatal Medicine 13:5, 329-334
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3. 3

   D. L. Van Dyke, S. A. Ebrahim, A. A. Al Saadi, S. A. Powell, J. L. Zenger-Hain, M. A. Micale, A. E. Wiktor, Y. S. Zou. (2007) The impact of maternal serum screening programs for Down syndrome in southeast Michigan, 1988–2003. Prenatal Diagnosis 27:6, 583-584
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4. 4

   Peter R. Muller, Robert Cocciolone, Eric A. Haan, Chris Wilkinson, Heather Scott, Leonie Sage, Renata Bird, Rhonda Hutchinson, Annabelle Chan. (2007) Trends in state/population-based Down syndrome screening and invasive prenatal testing with the introduction of first-trimester combined Down syndrome screening, South Australia, 1995-2005. American Journal of Obstetrics and Gynecology 196:4, 315.e1-315.e7
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5. 5

   Karen L. Lawson. (2006) Expectations of the parenting experience and willingness to consider selective termination for Down Syndrome. Journal of Reproductive and Infant Psychology 24:1, 43-59
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6. 6

   Karen L. Lawson. (2003) Perceptions of Deservedness of Social Aid as a Function of Prenatal Diagnostic Testing1. Journal of Applied Social Psychology 33:1, 76-90
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7. 7

   K.L. Lawson. (2001) Contemplating selective reproduction: The subjective appraisal of parenting a child with a disability. Journal of Reproductive and Infant Psychology 19:1, 73-82
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8. 8

   Tracy Cheffins, Annabelle Chan, Eric A. Haan, Enzo Ranieri, Richard G. Ryall, Rosemary J. Keane, Rosemary Byron-Scott, Heather Scott, Elizabeth M. Gjerde, Anh-Minh Nguyen, Judith H. Ford, Stephen Sykes. (2000) The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South Australia. BJOG: An International Journal of Obstetrics and Gynaecology 107:12, 1453-1459
   CrossRef

9. 9

   Jacques Massé, Anne Summers, George Cherian, Jean-Claude Forest. (2000) Transportation of maternal serum specimens for screening for chromosomal aneuploidies: effect of seasonal variations, distance, and freezing on the stability of the biological markers. Clinical Biochemistry 33:4, 273-277
   CrossRef

10. 10

    Palomaki, Glenn E., Williams, Josephine R.Haddow, James E., . (1999) Prenatal Screening for Open Neural-Tube Defects in Maine. New England Journal of Medicine 340:13, 1049-1050
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11. 11

    James E Haddow. (1998) Antenatal screening for Down's syndrome. The Lancet 352:9134, 1144-1145
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12. 12

    Jacques Massé, Jean-Claude Forest, Jean-Marie Moutquin, Pierre DeGrandpré. (1997) Effect of Repeated Freeze-Thaw Cycles on Maternal Serum Biological Markers for the Detection of Fetal Trisomies. Clinical Biochemistry 30:7, 527-530
    CrossRef

13. 13

    J. E. HADDOW, G. E. PALOMAKI. (1996) LETTER TO THE EDITOR. SIMILARITIES IN WOMEN'S DECISION-MAKING IN THE U.S. AND U.K. DURING PRENATAL SCREENING FOR DOWN'S SYNDROME. Prenatal Diagnosis 16:12, 1161-1162
    CrossRef