With new prenatal testing, will babies with Down syndrome slowly disappear?

Archives of Disease in Childhood

Volumn 94, Issue 11, 2009, Pages 823-826

  Skotko, Brian G ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; CHORION VILLUS SAMPLING; CHROMOSOME 21; DNA SEQUENCE; DOWN SYNDROME; GENETIC COUNSELING; HUMAN; MEDICAL DECISION MAKING; MEDICAL EDUCATION; MEDICAL ETHICS; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; TRISOMY 21;

ATTITUDE OF HEALTH PERSONNEL; CLINICAL COMPETENCE; DECISION MAKING; DOWN SYNDROME; FEMALE; FORECASTING; GREAT BRITAIN; HUMANS; INCIDENCE; OBSTETRICS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY TRIMESTER, SECOND; PRENATAL CARE; PRENATAL DIAGNOSIS; UNITED STATES;

EID: 70350445521     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2009.166017     Document Type: Review

References (53)

1. Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005;353:2001-2011 (Pubitemid 41609093)
2. Canadian Collaborative CVS-Amniocentesis Clinical Trial Group. Multicentre randomised clinical trial of chorion villus sampling and amniocentesis. First report. Lancet 1989;1:1-6.
3. Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol 2006;108:612-616
4. Eddleman KA, Malone FD, Sullivan L, et al. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 2006;108:1067-1072 (Pubitemid 44665399)
5. Mazza V, Pati M, Bertucci E, et al. Age-specific risk of fetal loss post second trimester amniocentesis: analysis of 5043 cases. Prenat Diagn 2007;27:180-183 (Pubitemid 46293941)
6. Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 2007;110:687-694 (Pubitemid 47359597)
7. Rhoads GG, Jackson LG, Schlesselman SE, et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 1989;320:609-617
8. ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 2007;109:217-227
9. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol 2007;110:1459-1467
10. Driscoll DA, Gross SJ, Professional Practice and Guidelines Committee. First trimester diagnosis and screening for fetal aneuploidy. Genet Med 2008;10:73-75
11. UK National Screening Committee (UKNSC). Fetal Anomaly Screening Programme - Screening for Down's Syndrome: UK NDSC Policy recommendations 2007-2010: Model of Best Practice. (Search via http://www.dh.gov.uk) (Accessed 5 Mar 2009.)
12. Wright C. Cell-free fetal nucleic acids for noninvasive prenatal diagnosis. Report of the UK expert working group. Cambridge: PHG Foundation, 2009.
13. Lo YM, Tsui NB, Chiu RW, et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 2007;13:218-223
14. Lo YM, Chiu RW. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis. Clin Chem 2008;54:461-466
15. Lo YM. Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art. BJOG 2009;116:152-157
16. Maron JL, Bianchi DW. Prenatal diagnosis using cell-free nucleic acids in maternal body fluids: a decade of progress. Am J Med Genet C Semin Med Genet 2007;145C:5-17.
17. Puszyk WM, Crea F, Old RW. Noninvasive prenatal diagnosis of aneuploidy using cell-free nucleic acids in maternal blood: promises and unanswered questions. Prenat Diagn 2008;28:1-6. (Pubitemid 351251981)
18. Yang Y, Ding JH, Lee MS, et al. Identification of mRNA-SNP markers for a noninvasive prenatal trisomy 21 (T21) test. Prenat Diagn 2008;28:S12.
19. Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 2008;105:16266-16271
20. Mansfield C, Hopfer S, Marteau TM. Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality). Prenat Diagn 1999;19:808-812 (Pubitemid 29438168)
21. O'Leary P, Bower C, Murch A, et al. The impact of antenatal screening for Down syndrome in Western Australia: 1980-1994. Aust N Z J Obstet Gynaecol 1996;36:385-388
22. Caruso TM, Westgate MN, Holmes LB. Impact of prenatal screening on the birth status of fetuses with Down syndrome at an urban hospital, 1972-1994. Genet Med 1998;1:22-28
23. Carothers AD, Boyd E, Lowther G, et al. Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings. Genet Epidemiol 1999;16:179-190
24. Wortelboer MJ, De Wolf BT, Verschuuren-Bemelmans CC, et al. Trends in live birth prevalence of Down syndrome in the Northern Netherlands 1987-1996: the impact of screening and prenatal diagnosis. Prenat Diagn 2000;20:709-713
25. Rösch C, Steinbicker V, Kropf S. Down's syndrome: the effects of prenatal diagnosis and demographic factors in a region of the eastern part of Germany. Eur J Epidemiol 2000;16:627-632 (Pubitemid 30800490)
26. Cheffins T, Chan A, Haan EA, et al. 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 2000;107:1453-1459 (Pubitemid 32047476)
27. Verloes A, Gillerot Y, Van Maldergem L, et al. Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test? Eur J Hum Genet 2001;9:1-4.
28. Iliyasu Z, Gilmour WH, Stone DH. Prevalence of Down syndrome in Glasgow, 1980-1996 - the growing impact of prenatal diagnosis on younger mothers. Health Bull (Edinb) 2002;60:20-26
29. Bell R, Rankin J, Donaldson LJ, Northern Congenital Abnormality Survey Steering Group. Down's syndrome: occurrence and outcome in the north of England, 1985-1999. Paediatr Perinat Epidemiol 2003;17:33-39
30. Khoshnood B, De Vigan C, Vodovar V, et al. A population-based evaluation of the impact of antenatal screening for Down's syndrome in France, 1981-2000. BJOG 2004;111:485-490
31. Ekelund CK, Jorgensen FS, Petersen OB, et al. Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study. BMJ 2008;337:a2547.
32. Egan J, Benn P, Turner G, et al. An update on trends in Down syndrome livebirths in the U.S. from 1989 to 2005. Am J Obstet Gynecol 2008;199:S168.
33. Halliday J, Collins V, Riley M, et al. Has prenatal screening influenced the prevalence of comorbidities associated with Down syndrome and subsequent survival rates? Pediatrics 2009;123:256-261
34. National Down Syndrome Cytogenetic Register (NDSCR). 2006 Annual Report. http://www.wolfson.qmul.ac.uk/ndscr (accessed 24 Nov 2008).
35. Egan JF, Benn PA, Zelop CM, et al. Down syndrome births in the United States from 1989 to 2001. Am J Obstet Gynecol 2004;191:1044-1048
36. Buckley F, Buckley S. Wrongful deaths and rightful lives - screening for Down syndrome. Downs Syndr Res Pract 2008;12:79-86.
37. Alfirevic Z. Prenatal screening for Down's syndrome. BMJ 2009;338:b140.
38. Helm DT, Miranda S, Chedd NA. Prenatal diagnosis of Down syndrome: mothers' reflections on supports needed from diagnosis to birth. Ment Retard 1998;36:55-61. (Pubitemid 128714687)
39. Tymstra T, Bosboom J, Bouman K. Prenatal diagnosis of Down's Syndrome: Experiences of women who decided to continue with the pregnancy. International Journal of Risk & Safety in Medicine 2004;16:91-96 (Pubitemid 38951234)
40. Skotko B, Bedia RC. Continuing a pregnancy after a prenatal diagnosis of Down syndrome in Spain: A four-case report. Progr Diag Trat Prenat 2005;17:189-192
41. Skotko BG. Prenatally diagnosed Down syndrome: mothers who continued their pregnancies evaluate their health care providers. Am J Obstet Gynecol 2005;192:670-677
42. Korenromp MJ, Page-Christiaens GC, van den Bout J, et al. Maternal decision to terminate pregnancy in case of Down syndrome. Am J Obstet Gynecol 2007;196:149.e1, 149.11. (Pubitemid 46239981)
43. Dixon DP. Informed consent or institutionalized eugenics? How the medical profession encourages abortion of fetuses with Down syndrome. Issues Law Med 2008;24:3-59.
44. Special Olympics. The health and health care of people with intellectual disabilities. http://www.specialolympics.org/ (accessed 1 Feb 2007).
45. Cleary-Goldman J, Morgan MA, Malone FD, et al. Screening for Down syndrome: practice patterns and knowledge of obstetricians and gynecologists. Obstet Gynecol 2006;107:11-17 (Pubitemid 43755498)
46. Driscoll DA, Morgan MA, Schulkin J. Screening for Down syndrome: changing practice of obstetricians. Am J Obstet Gynecol 2009;200:459.e1, 459.e9.
47. Wertz DC. Drawing lines: notes for policymakers. In: Parens E, Asch A, eds. Prenatal testing and disability rights. Washington, DC: Georgetown University Press, 2000: 261-287
48. Ferguson JE 2nd, Kleinert HL, Lunney CA, et al. Resident physicians' competencies and attitudes in delivering a postnatal diagnosis of Down syndrome. Obstet Gynecol 2006;108:898-905.
49. Human Genetics Commission. Making babies: Reproductive decisions and genetic technologies. London, 2006.
50. Pfeiffer S. Families teach med students what textbooks can't. WBUR radio (Boston 90.9FM). 8 January 2009.
51. Committee on Ethics, American College of Obstetricians and Gynecologists. ACOG Committee Opinion No. 360: Sex selection. Obstet Gynecol 2007;109:475-478
52. Saletan W. Eugenic euphemisms: Protecting our children from diseases - and ugly truths. Slate 14 January 2009.
53. Skotko BG, Kidder CS. Common threads: celebrating life with Down syndrome. Rochester Hills, Michigan: Band of Angels Press, 2001.