Skip to main content
Log in

Prenatal Testing for Down Syndrome: Comparison of Screening Practices in the UK and USA

  • Professional Issues
  • Published:
Journal of Genetic Counseling

Abstract

Prenatal testing for Down Syndrome is a topic covered in every genetic counselor’s training as it constitutes the main workload of genetic counselors in prenatal settings. Most Western countries nowadays offer some type of testing for Down Syndrome. However, practices vary according to country with regards to what tests are offered, insurance coverage and the legal situation concerning the option of terminating an affected pregnancy. In view of the growing interest in international genetic counseling issues, this article aims to compare prenatal testing practices in two English-speaking countries: the United Kingdom and the United States of America. A case will be presented to highlight some of the differences in practice. The topic underlines important implications for genetic counseling practice, such as patients’ understanding of testing practices, risk perception, counseling provision and impact of prenatal testing results.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Abortion Act. (1967). (c.87), available at https://doi.org/www.statutelaw.gov.uk/content.aspx?activeTextDocId=1181037, accessed 19 August 2008.

  • Ahmed, S., Bryant, L., & Hewison, J. (2007). ‘Balance’ is in the eye of the beholder: providing information to support informed choices in antenatal screening via Antenatal Screening Web Resource. Health Expectations, 10, 309–320.

    Article  PubMed  PubMed Central  Google Scholar 

  • Alan Guttmacher Institute (AGI). (1997). Late-term abortions: legal considerations, Issues in Brief, New York: AGI, available at https://doi.org/www.guttmacher.org/pubs/ib13.pdf, accessed 17 August 2008.

  • Alan Guttmacher Institute. (2008a). State Policies on Later-Term Abortions. State Policies in Brief, New York: AGI. Availabe at https://doi.org/www.guttmacher.org/statecenter/spibs/spib_PLTA.pdf, accessed 17 August 2008.

  • Alan Guttmacher Institute. (2008b). An Overview of Abortion Laws. State Policies in Brief, New York: AGI. Availabe at https://doi.org/www.guttmacher.org/statecenter/spibs/spib_OAL.pdf, accessed 19 August 2008.

  • Alderson, P. (2001). Down’s syndrome: cost, quality and value of life. Social Science and Medicine, 53(5), 627–638.

    Article  CAS  PubMed  Google Scholar 

  • Alfirevic, Z. (2009). Prenatal screening for Down’s syndrome. BMJ, 338, b140.

    Article  PubMed  Google Scholar 

  • American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 77. (2007a). Screening for fetal chromosomal abnormalities. Obstetrics and Gynecology, 109, 217–228.

    Article  Google Scholar 

  • American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88. (2007b). Invasive prenatal testing for aneuploidy. Obstetrics and Gynecology, 110(6), 1459–1467.

    Article  Google Scholar 

  • American College of Obstetricians and Gynecologists. ACOG Statement on the US Supreme Court Decision Upholding the Partial-Birth Abortion Ban Act of 2003. (2007c). ACOG NEWS RELEASE, available at https://doi.org/www.acog.org/from_home/publications/press_releases/nr04-18-07.cfm, accessed 19 August 2008.

  • American College of Obstetricians and Gynecologists. ACOG Committee on Ethics, Committee Opinion No. 360. (2007d). Sex selection. Obstetrics and Gynecology, 109(2 Pt 1), 475–478.

    Google Scholar 

  • American Medical Association (AMA) policy H-5.982 Late-Term Pregnancy Termination Techniques. Available at https://doi.org/www0.ama-assn.org/apps/pf_new/pf_online?f_n=resultLink&doc=policyfiles/HnE/H5.982.HTM&s_t=abortion&catg=AMA/HnE&&nth=1&&st_p=0&nth=2&, accessed 17 August 2008.

  • American Medical Association (AMA) News Release on Direct-to-consumer advertising and provision of genetic testing. (2008b). Available at https://doi.org/www.ama-assn.org/ama/pub/category/18690.html, accessed 19 August 2008.

  • Ball, R. H., Caughey, A. B., Malone, F. D., First and Second Trimester Evaluation of Risk (FASTER) Research Consortium, et al. (2007). First- and second-trimester evaluation of risk for Down syndrome. Obstetrics and Gynecology, 110, 10–17.

    Article  PubMed  Google Scholar 

  • Benacerraf, B. R. (2005). The role of the second trimester genetic sonogram in screening for fetal Down syndrome. Seminars in Perinatology, 29(6), 386–394.

    Article  PubMed  Google Scholar 

  • Benn, P. A., Campbell, W. A., Zelop, C. M., Ingardia, C., & Egan, J. F. (2007). Stepwise sequential screening for fetal aneuploidy. American Journal of Obstetrics and Gynecology, 197(3), 312.

    Article  PubMed  Google Scholar 

  • Bersinger, N. A., Zakher, A., Huber, U., Pescia, G., & Schneider, H. (1995). A sensitive enzyme immunoassay for pregnancy-associated plasma protein A (PAPP-A): a possible first trimester method of screening for Down syndrome and other trisomies. Archives of Gynecology and Obstetrics, 256(4), 185–192.

    Article  CAS  PubMed  Google Scholar 

  • Bianchi, D. W. (1999). Fetal cells in the maternal circulation: feasibility for prenatal diagnosis. British Journal Haematology, 105, 574–583.

    Article  CAS  Google Scholar 

  • Bishop, A. J., Marteau, T. M., Armstrong, D., Chitty, L. S., Longworth, L., Buxton, M. J., et al. (2004). Women and health care professionals’ preferences for Down’s Syndrome screening tests: a conjoint analysis study. BJOG, 111(8), 775–779.

    Article  PubMed  Google Scholar 

  • Bogart, M., Pandian, M. R., & Jones, O. W. (1987). Abnormal maternal serum chorionic gonadotrophin levels in pregnancies with fetal chromosome abnormalities. Prenatal Diagnosis, 7, 623–630.

    Article  CAS  PubMed  Google Scholar 

  • Borrell, A., Gonce, A., Martinez, J. M., Borobio, V., Fortuny, A., Coll, O., et al. (2005). First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers. Prenatal Diagnosis, 25, 901–905.

    Article  PubMed  Google Scholar 

  • Boyd, P. A., Devigan, C., Khoshnood, B., Loane, M., Garne, E., Dolk, H., et al. (2008). Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down’s syndrome. British Journal of Obstetrics and Gynaecology, 115(6), 689–696.

    Article  CAS  PubMed  Google Scholar 

  • Brasington, C. K. (2007). What I wish I knew then...reflections from personal experiences in counseling about Down syndrome. Journal of Genetic Counseling, 16(6), 731–734.

    Article  PubMed  Google Scholar 

  • Caughey, A. B., Washington, A. E., & Kuppermann, M. (2008). Perceived risk of prenatal diagnostic procedure-related miscarriage and Down syndrome among pregnant women. American Journal of Obstetrics and Gynecology, 198(3), 333.

    Article  PubMed  Google Scholar 

  • Centers for Disease Control and Prevention. (2005). Morbidity and Mortality Weekly Report: Abortion Surveillance—United States, 2005. Available at https://doi.org/www.cdc.gov/mmwr/preview/mmwrhtml/ss5713a1.htm, accessed 19 August 2009.

  • Cheffins, T., Chan, A., Haan, E. A., Ranieri, E., Ryall, R. G., Keane, R. J., et al. (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, 107(12), 1453–1459.

    Article  CAS  PubMed  Google Scholar 

  • Chervenak, F. A., McCullough, L. B., & Campbell, S. (1999). Third trimester abortion: is compassion enough? British Journal of Obstetrics and Gynaecology, 106(4), 293–296.

    Article  CAS  PubMed  Google Scholar 

  • Chitty, L. S., van der Schoot, C. E., Hahn, S., & Avent, N. D. (2008). SAFE–the Special Non-invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements. Prenatal Diagnosis, 28(2), 83–88.

    Article  PubMed  Google Scholar 

  • Cicero, S., Curcio, P., Papageorghiou, A., Sonek, J., & Nicolaides, K. (2001). Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet, 358, 1665–1667.

    Article  CAS  PubMed  Google Scholar 

  • Cleary-Goldman, J., Morgan, M. A., Malone, F. D., Robinson, J. N., D’Alton, M. E., & Schulkin, J. (2006). Screening for Down syndrome: practice patterns and knowledge of obstetricians and gynecologists. Obstetrics and Gynecology, 107, 11–17.

    Article  PubMed  Google Scholar 

  • Cowchock, F. S., & Jackson, L. G. (1976). Diagnostic use of maternal serum alpha-fetoprotein levels. Obstetrics and Gynecology, 47(1), 63–68.

    CAS  PubMed  Google Scholar 

  • Cuckle, H. S., Wald, N. J., & Lindenbaum, R. H. (1984). Maternal serum alpha fetoprotein measurement. A screening test for Down syndrome. Lancet, 28(1(8383)), 926–929.

    Article  Google Scholar 

  • Cuckle, H. S., Wald, N. J., & Thompson, S. G. (1987). Estimating a woman’s risk of having a pregnancy associated with Down Syndrome using her age and serum alpha-fetoprotein level. British Journal of Obstetrics and Gynaecology, 94, 387.

    Article  CAS  PubMed  Google Scholar 

  • Dahl, K., Kesmodel, U., Hvidman, L., & Olesen, F. (2006). Informed consent: attitudes, knowledge and information concerning prenatal examinations. Acta Obstetricia et Gynecologica Scandinavica, 85(12), 1414–1419.

    Article  PubMed  Google Scholar 

  • Dalgliesh, G. L., Aitken, D. A., Lyall, F., Howatson, A. G., & Connor, J. M. (2001). Placental and maternal serum inhibin-A and activin-A levels in Down’s syndrome pregnancies. Placenta, 22(2–3), 227–234.

    Article  CAS  PubMed  Google Scholar 

  • DOH Chief Executive Bulletin No. 84, available at https://doi.org/www.publications.doh.gov.uk/cebulletin20september.htm#downs, accessed 10 August 2008.

  • Dolk, H., Loane, M., Garne, E., De Walle, H., Queisser-Luft, A., De Vigan, C., et al. (2005). Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980–1999. Revue d'Epidemiologie et de Sante Publique, 53 Spec No 2, 2S87–2S95.

    CAS  PubMed  Google Scholar 

  • Dommergues, M., Benachi, A., Benifla, J. L., des Noëttes, R., & Dumez, Y. (1999). The reasons for termination of pregnancy in the third trimester. British Journal of Obstetrics and Gynaecology, 106(4), 297–303.

    Article  CAS  PubMed  Google Scholar 

  • Driscoll, D. A., Gross, S. J., & Professional Practice and Guidelines Committee. (2008). First trimester diagnosis and screening for fetal aneuploidy. Genetics in Medicine, 10(1), 73–75.

    Article  PubMed  PubMed Central  Google Scholar 

  • Driscoll, D. A., Morgan, M. A., & Schulkin, J. (2009). Screening for Down syndrome: changing practice of obstetricians. American Journal of Obstetrics and Gynecology, 200(4), 459.

    Article  PubMed  Google Scholar 

  • Drotar, D., Baskiewicz, A., Irvin, N., Kennell, J., & Klaus, M. (1975). The adaptation of parents to the birth of an infant with a congenital malformation: a hypothetical model. Pediatrics, 56(5), 710–717.

    CAS  PubMed  Google Scholar 

  • Eddleman, K. A., Malone, F. D., Sullivan, L., Dukes, K., Berkowitz, R. L., Kharbutli, Y., et al. (2006). Pregnancy loss rates after midtrimester amniocentesis. Obstetrics and Gynecology, 108(5), 1067–1072.

    Article  PubMed  Google Scholar 

  • Egan, J. F., Kaminsky, L. M., DeRoche, M. E., Barsoom, M. J., Borgida, A. F., & Benn, P. A. (2002). Antenatal Down syndrome screening in the United States in 2001: a survey of maternal-fetal medicine specialists. American Journal of Obstetrics and Gynecology, 187(5), 1230–1234.

    Article  PubMed  Google Scholar 

  • Egan, J. F., Benn, P. A., Zelop, C. M., Bolnick, A., Gianferrari, E., & Borgida, A. F. (2004). Down syndrome births in the United States from 1989 to 2001. American Journal of Obstetrics and Gynecology, 191(3), 1044–1048.

    Article  PubMed  Google Scholar 

  • Fan, H. C., Blumenfield, Y. J., Chitkara, U., Hudgins, L., & Quake, S. R. (2008). Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proceedings of the National Academy of Sciences of the United States of America, 105(42), 16266–16271.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Fetal Anomaly Screening Programme—Screening for Down’s Syndrome: UK NSC Policy recommendations 2007 – 2010: Model of Best Practice, available at https://doi.org/www.fetalanomaly.screening.nhs.uk/images/Fetal/Publications/DH_084731%5B1%5D.pdf. Accessed 12 August 2008.

  • Finning, K. M., & Chitty, L. S. (2008). Non-invasive fetal sex determination: impact on clinical practice. Semin Fetal Neonatal Med, 13(2), 69–75.

    Article  PubMed  Google Scholar 

  • Ford, C., Moore, A. J., Jordan, P. A., Bartlett, W. A., Wyldes, M. P., Jones, A. F., et al. (1998). The value of screening for Down’s syndrome in a socioeconomically deprived area with a high ethnic population. British Journal of Obstetrics and Gynaecology, 105(8), 855–859.

    Article  CAS  PubMed  Google Scholar 

  • Gans Epner, J. E., Jonas, H. S., & Seckinger, D. L. (1998). Late-term abortion. JAMA, 280, 724–729.

    Article  Google Scholar 

  • Freeman, S. B., Bean, L. H., Allen, E. G., Tinker, S. W., Locke, A. E., Druschel, C., et al. (2008). Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med, 10(3), 173–180.

    Article  PubMed  Google Scholar 

  • Georgsson Öhman, S., Saltvedt, S., Waldenström, U., Grunewald, C., & Olin-Lauritzen, S. (2006). Pregnant women’s responses to information about an increased risk of carrying a baby with Down syndrome. Birth, 33(1), 64–73.

    Article  Google Scholar 

  • Gekas, J., Gagné, G., Bujold, E., Douillard, D., Forest, J.-C., Reinharz, D., et al. (2009). Comparison of cost effectiveness of different strategies and risk cut-off values in prenatal screening for Down’s syndrome: computer simulation. BMJ, 338, b138.

    Article  PubMed  PubMed Central  Google Scholar 

  • Genetics White Paper. (2003). Our inheritance, Our future—realising the potential of genetics in the NHS, Department of Health, available at https://doi.org/www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_4006538, accessed 11 August 2008.

  • Green, J. M., Hewison, J., Bekker, H. L., Bryant, L. D., & Cuckle, H. S. (2004). Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. Health Technology Assessment, 8(33), iii. ix–x, 1–109.

    Article  PubMed  Google Scholar 

  • Grimes, D. A., & Snively, G. R. (1999). Patients’ understanding of medical risks: implications for genetic counseling. Obstetrics and Gynecology, 93, 910–914.

    CAS  PubMed  Google Scholar 

  • Government Statistical Service. (2005). Abortion Statistics, England and Wales: 2004, available at: https://doi.org/www.dh.gov.uk/prod_consum_dh/groups/dh_digitalassets/@dh/@en/documents/digitalasset/dh_4117574.pdf, accessed 19 August 2008.

  • Hall, S., Bobrow, M., & Marteau, T. M. (2000). Psychological consequences for parents of false negative results on prenatal screening for Down’s syndrome: retrospective interview study. BMJ, 320(7232), 407–412.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Harris, R. A., Washington, A. E., Nease, R. F., Jr., & Kuppermann, M. (2004). Cost utility of prenatal diagnosis and the risk-based threshold. Lancet, 363, 276–282.

    Article  PubMed  Google Scholar 

  • Hastings, R. P., & Beck, A. (2004). Practitioner review: stress intervention for parents of children with intellectual disabilities. Journal of Child Psychology and Psychiatry, 45(8), 1338–1349.

    Article  PubMed  Google Scholar 

  • Hoskovec, J., Mastrobattista, J. M., Johnston, D., Kerrigan, A., Robbins-Furman, P., & Wicklund, C. A. (2008). Anxiety and prenatal testing: do women with soft ultrasound findings have increased anxiety compared to women with other indications for testing? Prenatal Diagnosis, 28(2), 135–140.

    Article  PubMed  Google Scholar 

  • Human Fertilisation and Embryology Act. (1990). available at https://doi.org/www.opsi.gov.uk/Acts/acts1990/ukpga_19900037_en_3#pb11-l1g37, accessed 19 August 2008.

  • Human Genetics Commission. Choosing the future: genetics and reproductive decision making. (2004). available at https://doi.org/www.hgc.gov.uk/UploadDocs/DocPub/Document/ChooseFuturefull.pdf, accessed 5 August 2009.

  • Illanes, S., Denbow, M., Kailasam, C., Finning, K., & Soothill, P. W. (2007). Early detection of cell-free fetal DNA in maternal plasma. Early Human Development, 83, 563–566.

    Article  CAS  PubMed  Google Scholar 

  • Jackson, L. G., Zachary, J. M., Fowler, S. E., Desnick, R. J., Golbus, M. S., Ledbetter, D. H., et al. (1992). A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. New England Journal of Medicine, 327(9), 594–598.

    Article  CAS  PubMed  Google Scholar 

  • Khoshnood, B., Pryde, P., Blondel, B., & Lee, K. S. (2003). Socioeconomic and state-level differences in prenatal diagnosis and live birth prevalence of Down’s syndrome in the United States. Revue d'Epidemiologie et de Sante Publique, 51(6), 617–627.

    CAS  PubMed  Google Scholar 

  • Khoshnood, B., De Vigan, C., Vodovar, V., Goujard, J., & Goffinet, F. (2004). A population-based evaluation of the impact of antenatal screening for Down’s syndrome in France, 1981–2000. BJOG, 111(5), 485–490.

    Article  PubMed  PubMed Central  Google Scholar 

  • Kobelka, C., Mattman, A., & Langlois, S. (2009). An evaluation of the decision-making process regarding amniocentesis following a screen-positive maternal serum screen result. Prenatal Diagnosis, 29(5), 514–519.

    Article  PubMed  Google Scholar 

  • Korenromp, M. J., Christiaens, G. C., van den Bout, J., Mulder, E. J., Hunfeld, J. A., Bilardo, C. M., et al. (2005). Long-term psychological consequences of pregnancy termination for fetal abnormality: a cross-sectional study. Prenatal Diagnosis, 25(3), 253–260.

    Article  CAS  PubMed  Google Scholar 

  • Krantz, D. A., Hallahan, T. W., Macri, V. J., & Macri, J. N. (2007). Genetic sonography after first-trimester Down syndrome screening. Ultrasound in Obstetrics and Gynecology, 29(6), 666–670.

    Article  CAS  PubMed  Google Scholar 

  • Kuppermann, M., Nease, R. F., Learman, L. A., Gates, E., Blumberg, B., & Washington, A. E. (2000). Procedure-related miscarriages and Down syndrome-affected births: implications for prenatal testing based on women’s preferences. Obstetrics and Gynecology, 96, 511–516.

    CAS  PubMed  Google Scholar 

  • Learman, L. A., Kuppermann, M., Gates, E., Nease, R. F., Jr., Gildengorin, V., & Washington, A. E. (2003). Social and familial context of prenatal genetic testing decisions: are there racial/ethnic differences? American Journal of Medical Genetics, 119C, 19–26.

    Article  PubMed  Google Scholar 

  • Lo, Y. M. D., Corbetta, N., Chamberlain, P. F., Rai, V., Sargent, I. L., Redman, C. W., et al. (1997). Presence of fetal DNA in maternal plasma and serum. Lancet, 350, 385–487.

    Article  Google Scholar 

  • Lo, Y. M. D., Tsui, N. B. Y., Chiu, R. W. K., Lau, T. K., Leung, T. N., Heung, M. M. S., et al. (2007). Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nature Medicine, 13, 218–223.

    Article  CAS  PubMed  Google Scholar 

  • Lloyd, T., & Hastings, R. P. (2008). Psychological variables as correlates of adjustment in mothers of children with intellectual disabilities: cross-sectional and longitudinal relationships. Journal of Intellectual Disability Research, 52(Pt 1), 37–48.

    CAS  PubMed  Google Scholar 

  • Malone, F. D., Ball, R. H., Nyberg, D. A., Comstock, C. H., Saade, G., Berkowitz, R. L., et al. (2004). First-trimester nasal bone evaluation for aneuploidy in the general population. Obstetrics and Gynecology, 104, 1222–1228.

    Article  PubMed  Google Scholar 

  • Malone, F. D., Canick, J. A., Ball, R. H., Nyberg, D. A., Comstock, C. H., Bukowski, R., et al. (2005). First-trimester or second-trimester screening, or both, for Down’s syndrome. New England Journal of Medicine, 10;353(19), 2001–2011.

    Article  Google Scholar 

  • Mansfield, C., Hopfer, S., & Marteau, T. M. (1999). 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). Prenatal Diagnosis, 19(9), 808–812.

    Article  CAS  PubMed  Google Scholar 

  • Merkatz, I. R., Nitowsky, H. M., Macri, J. N., & Johnson, W. E. (1984). An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. American Journal of Obstetrics and Gynecology, 148(7), 886–894.

    Article  CAS  PubMed  Google Scholar 

  • Model of Best Practice. (2003). Down’s syndrome screening; Department of Health, available at https://doi.org/scfa.web.its.manchester.ac.uk/images/Fetal/Publications/model_bestpractice.pdf, accessed 10 August 2008.

  • Morris, J. K. (2009). The National Down Syndrome Cytogenetic Register 2007/8 Annual Report. Barts and The London School of Medicine and Dentistry. Queen Mary University of London. https://doi.org/www.wolfson.qmul.ac.uk/ndscr/reports/NDCSRreport0708.pdf, accessed 29 July 2009.

  • Morris, J. K., Mutton, D. E., & Alberman, E. (2005). Recurrences of free trisomy 21: analysis of data from the National Down Syndrome Cytogenetic Register. Prenatal Diagnosis, 25(12), 1120–1128.

    Article  CAS  PubMed  Google Scholar 

  • Mueller, V. M., Huang, T., Summers, A. M., & Winsor, S. H. (2005). The influence of risk estimates obtained from maternal serum screening on amniocentesis rates. Prenatal Diagnosis, 25(13), 1253–1257.

    Article  CAS  PubMed  Google Scholar 

  • Mujezinovic, F., & Alfirevic, Z. (2007). Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstetrics and Gynecology, 110, 687–694.

    Article  PubMed  Google Scholar 

  • Nagle, C., Hodges, R., Wolfe, R., & Wallace, E. M. (2009). Reporting Down syndrome screening results: women’s understanding of risk. Prenatal Diagnosis, 29(3), 234–239.

    Article  PubMed  Google Scholar 

  • Nassar, A. H., Martin, D., Gonzalez-Quintero, V. H., Gomez-Marin, O., Salman, F., Gutierrez, A., et al. (2004). Genetic amniocentesis complications: is the incidence overrated? Gynecologic and Obstetric Investigation, 58(2), 100–104.

    Article  PubMed  Google Scholar 

  • National Screening Committee. (2002). Antenatal Screening Service for Down’s Syndrome in England: 2001. Published August 2002, ISBN 0954368401.

  • National Service Framework for Children Young People and Maternity Services. (2003). Gateway reference 3779 2004, available at https://doi.org/www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyandGuidance/DH_4006182, accessed 11 August 2008.

  • National Society of Genetic Counselors Professional Status Survey. (2006). available at https://doi.org/www.nsgc.org/client_files/career/2006_PSS_results.pdf, accessed 18 August 2008.

  • Newson, A. J. (2008). Ethical aspects arising from non-invasive fetal diagnosis. Semin Fetal Neonatal Med, 13(2), 103–108.

    Article  PubMed  Google Scholar 

  • NICE guidance. (2003). Antenatal Care: routine care for the healthy pregnant woman. Clinical Guideline 6. National Institute for Clinical Excellence. Available at https://doi.org/www.nice.org.uk/nicemedia/pdf/CG6_ANC_NICEguideline.pdf#null, accessed 4 August 2009.

  • NICE guidance. (2008). Antenatal Care: Routine care for the healthy pregnant woman. Clinical Guidline 62. National Institute for Clinical Excellence. Available at https://doi.org/guidance.nice.org.uk/CG62/NiceGuidance/pdf/English, accessed 4 August 2009.

  • Nicolaides, K. H., Brizot, M. L., & Snijders, R. J. (1994). Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy. British Journal of Obstetrics and Gynaecology, 101(9), 782–786.

    Article  CAS  PubMed  Google Scholar 

  • Nicolaides, K. H., Spencer, K., Avgidou, K., Faiola, S., & Falcon, O. (2007). 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 in Obstetrics and Gynecology, 25(3), 221–226.

    Article  Google Scholar 

  • Norem, C. T., Schoen, E. J., Walton, D. L., Krieger, R. C., O’Keefe, J., To, T. T., et al. (2005). Routine ultrasonography compared with maternal serum alpha-fetoprotein for neural tube defect screening. Obstetrics and Gynecology, 106(4), 747–752.

    Article  PubMed  Google Scholar 

  • Paintin, D. (1997). Abortion after 24 weeks. British Journal of Obstetrics and Gynaecology, 104(4), 398–400.

    Article  CAS  PubMed  Google Scholar 

  • Pelchat, D., Bisson, J., Ricard, N., Perreault, M., & Bouchard, J. M. (1999). Longitudinal effects of an early family intervention programme on the adaptation of parents of children with a disability. International Journal of Nursing Studies, 36, 465–477.

    Article  CAS  PubMed  Google Scholar 

  • Penrose, L. S. (1933). The relative effects of paternal and maternal age in mongolism. Journal of Genetics, 27, 219.

    Article  Google Scholar 

  • Programme statement on screening for trisomy 18 and 13 and neural tube defects (NTD’s). (2007). Available on https://doi.org/fetalanomaly.screening.nhs.uk/programmestatements as PDF file, accessed 22 July 2009.

  • Resta, R., Biesecker, B. B., Bennett, R. L., Blum, S., Hahn, S. E., Strecker, M. N., et al. (2006). A new definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force report. Journal of Genetic Counseling, 15(2), 77–83.

    Article  PubMed  Google Scholar 

  • Roe v. Wade. (1973). 410 U.S. 113, 93 S. Ct. 705; 35 L. Ed. 2d 147; 1973 U.S. LEXIS 159 available at https://doi.org/caselaw.lp.findlaw.com/scripts/getcase.pl?navby=CASE&court=US&vol=410&page=113, accessed 19 August 2008.

  • Royal College of Obstetricians and Gynaecologists report. (1996). Termination of pregnancy for fetal abnormality in England, Wales and Scotland. London: RCOG.

    Google Scholar 

  • Royal College of Obstetricians and Gynaecologists report. (2001). Further Issues Relating to Late Abortion, Fetal Viability and Registration of Births and Deaths, RCOG London, available at https://doi.org/www.rcog.org.uk/index.asp?PageID=549, accessed 16 August 2008.

  • Savva, G. M., Morris, J. K., Mutton, D. E., & Alberman, E. (2006). Maternal age-specific fetal loss rates in Down syndrome pregnancies. Prenatal Diagnosis, 26(6), 499–504.

    Article  PubMed  Google Scholar 

  • Schieve, L. A., Boulet, S. L., Boyle, C., Rasmussen, S. A., & Schendel, D. (2009). Health of children 3 to 17 years of age with Down syndrome in the 1997–2005 national health interview survey. Pediatrics, 123(2), e253–e260.

    Article  PubMed  Google Scholar 

  • Schmitz, D., Netzer, C., & Henn, W. (2009). An offer you can’t refuse? Ethical implications of non-invasive prenatal diagnosis. Nature Reviews Genetics, 10, 515.

    Article  CAS  PubMed  Google Scholar 

  • Seeds, J. W. (2004) Diagnostic mid trimester amniocentesis: how safe? American Journal of Obstetrics and Gynecology, 191(2), 607–615.

    Article  PubMed  Google Scholar 

  • Senat, M. V., Bernard, J. P., Boulvain, M., & Ville, Y. (2003). Intra- and interoperator variability in fetal nasal bone assessment at 11–14 weeks of gestation. Ultrasound in Obstetrics and Gynecology, 22(2), 138–141.

    Article  CAS  PubMed  Google Scholar 

  • Sharma, G., McCullough, L. B., & Chervenak, F. A. (2007). Ethical considerations of early (first vs. second trimester) risk assessment disclosure for trisomy 21 and patient choice in screening versus diagnostic testing. American Journal of Medical Genetics Part C Seminars in Medical Genetics, 145C, 99–104.

    Article  PubMed  Google Scholar 

  • Singer, G. H. S., Marquis, J., Powers, L. K., Blanchard, L., Divenere, N., Santelli, B., et al. (1999). A multi-site evaluation of parent to parent programs for parents of children with disabilities. Journal of Early Intervention, 22, 217–229.

    Article  Google Scholar 

  • Skotko, B. G. (2005). Prenatally diagnosed Down syndrome: mothers who continued their pregnancies evaluate their health care providers. American Journal of Obstetrics and Gynecology, 192(3), 670–677.

    Article  PubMed  Google Scholar 

  • Skotko, B., & Bedia, R. C. (2005). Postnatal support for mothers of children with Down syndrome. Mental Retardation, 43(3), 196–212.

    Article  PubMed  Google Scholar 

  • mith-Bindman, R., Hosmer, W., Feldstein, V. A., Deeks, J. J., & Goldberg, J. D. (2001). Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA, 285(8), 1044–1055.

    Article  CAS  PubMed  Google Scholar 

  • Smith-Bindman, R., Chu, P., & Goldberg, J. D. (2007). Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome. Prenatal Diagnosis, 27(6), 535–544.

    Article  PubMed  Google Scholar 

  • Tabor, A., Philip, J., Madsen, M., Bang, J., Obel, E. B., & Norgaard-Pedersen, B. (1986). Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet, 1(8493), 1287–1293.

    Article  CAS  PubMed  Google Scholar 

  • Unborn Victims of Violence act. (2004). United States Code: Title 18, Chapter 1 (Crimes), §1841 (18 USC 1841) available at https://doi.org/news.findlaw.com/hdocs/docs/abortion/unbornbill32504.html, accessed 19 August 2008.

  • van den Berg, M., Timmermans, D. R., Kleinveld, J. H., Garcia, E., van Vugt, J. M., & van der Wal, G. (2005a). Accepting or declining the offer of prenatal screening for congenital defects: test uptake and women’s reasons. Prenatal Diagnosis, 25(1), 84–90.

    Article  PubMed  Google Scholar 

  • van den Berg, M., Timmermans, D. R., Ten Kate, L. P., van Vugt, J. M., & van der Wal, G. (2005b). Are pregnant women making informed choices about prenatal screening? Genetics in Medicine, 7(5), 332–338.

    Article  PubMed  Google Scholar 

  • Van den Heuvel A, Chitty L, Dormandy E, Newson A, Deans Z, Attwood S, Haynes S, et al. (2009). Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals Patient Educ Couns. In press, doi:https://doi.org/10.1016/j.pec.2009.05.014.

    Article  PubMed  Google Scholar 

  • Von Eggeling, F., Freytag, M., Fahsold, R., Horsthemke, B., & Claussen, U. (1993). Rapid detection of trysomy 21 by quantitative PCR. Human Genetics, 91(6), 567–570.

    Article  Google Scholar 

  • Wald, N. J., Cuckle, H. S., Densem, J. W., Nanchahal, K., Canick, J. A., Haddow, J. E., et al. (1988). Maternal serum unconjugated oestriol as an antenatal screening test for Down’s syndrome. British Journal of Obstetrics and Gynaecology, 95(4), 334–341.

    Article  CAS  PubMed  Google Scholar 

  • Wald, N., Stone, R., Cuckle, H. S., Grudzinskas, J. G., Barkai, G., Brambati, B., et al. (1992). First trimester concentrations of pregnancy associated plasma protein A and placental protein 14 in Down’s syndrome. BMJ, 305, 28.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wald, N. J., Huttly, W. J., & Hennessy, C. F. (1999). Down’s syndrome screening in the UK in 1998. Lancet, 354(9186), 1264.

    Article  CAS  PubMed  Google Scholar 

  • Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM; SURUSS Research Group. (2003). First and second trimester antenatal screening for Down’s syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technology Assessment Vol. 7: No. 11.

  • Wald, N. J., Rodeck, C., Hackshaw, A. K., & Rudnicka, A. (2004) SURUSS in perspective. British Journal of Obstetrics and Gynaecology, 111, 521–531.

    Article  CAS  PubMed  Google Scholar 

  • Wald, N. J., Bestwick, J. P., & Morris, J. K. (2006). Cross-trimester marker ratios in prenatal screening for Down syndrome. Prenatal Diagnosis, 26(6), 514–523.

    Article  PubMed  Google Scholar 

  • Wald, N. J., Huttly, W. J., Murphy, K. W., Ali, K., Bestwick, J. P., & Rodeck, C. H. (2009). Antenatal screening for Down’s syndrome using the integrated test at two London hospitals. Journal of Medical Screening, 16(1), 7–10.

    Article  CAS  PubMed  Google Scholar 

  • Warburton, D., Dallaire, L., Thangavelu, M., Ross, L., Levin, B., & Kline, J. (2004). Trisomy recurrence: a reconsideration based on North American data. American Journal of Human Genetics, 75(3), 376–385.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Weil, J. (2001). Multicultural education and genetic counseling. Clinical Genetics, 59, 143–149.

    Article  CAS  PubMed  Google Scholar 

  • Weinans, M. J., Kooij, L., Müller, M. A., Bilardo, K. M., Van Lith, J. M., & Tymstra, T. (2004). A comparison of the impact of screen-positive results obtained from ultrasound and biochemical screening for Down syndrome in the first trimester: a pilot study. Prenatal Diagnosis, 24(5), 347–351.

    Article  PubMed  Google Scholar 

  • Wright, D. E., & Bradbury, I. (2005). Repeated measures screening for Down’s syndrome. British Journal of Obstetrics and Gynaecology, 112(1), 80–83.

    Article  PubMed  Google Scholar 

  • Wright, C. F., & Burton, H. (2009). The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Human Reproduction Update, 15(1), 139–151.

    Article  CAS  PubMed  Google Scholar 

  • Wright, D., Bradbury, I., Benn, P., Cuckle, H., & Ritchie, K. (2004). Contingent screening for Down’s syndrome is an efficient alternative to non-disclosure sequential screening. Prenatal Diagnosis, 24, 762–766.

    Article  PubMed  Google Scholar 

  • Zikmund-Fisher, B. J., Fagerlin, A., Keeton, K., & Ubel, P. A. (2007). Does labeling prenatal screening test results as negative or positive affect a woman’s responses? American Journal of Obstetrics and Gynecology, 197(5), 528.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Dagmar Tapon.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tapon, D. Prenatal Testing for Down Syndrome: Comparison of Screening Practices in the UK and USA. J Genet Counsel 19, 112–130 (2010). https://doi.org/10.1007/s10897-009-9269-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-009-9269-1

Keywords

Navigation