Prenatal Screening and Diagnosis

  • Kelly E. Ormond
Part of the Issues in Clinical Child Psychology book series (ICCP)


Deciding to and becoming a parent is filled with many emotional changes and challenges for the individual, the couple, and the broader family. When an individual or couple first contemplates parenthood, it is usually through the lens of society, their culture, religion, and family system. Despite some differences, in general parents hope for a healthy child, and even during pregnancy often begin imagining their child’s entire life, from birth through adulthood. Undergoing prenatal testing as a part of the pregnancy process can potentially add an additional layer of complication that was not historically present – women, couples, and families now have the potential ability to learn some health information about their prospective child and have the ability to make decisions in light of that information. This context of genetic testing in the obstetrics realm is quite different from that performed in a pediatric setting (where one is providing testing as part of a diagnostic workup, usually for a child known or suspected to have a genetic condition) or from that performed in an adult setting (where one is testing oneself, often in a predictive manner).


Genetic Counseling Down Syndrome Prenatal Diagnosis Club Foot Prenatal Testing 
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  1. Abramsky, L., Hall, S., Levitan, J., & Marteau, T. M. (2001). What parents are told after prenatal diagnosis of a sex chromosome abnormality: Interview and questionnaire study. BMJ, 322, 462–466.CrossRefGoogle Scholar
  2. Abuelo, D. N., Hopmann, M. R., Barsel-Bowers, B., & Goldstein, A. (1991). Anxiety in women with low maternal serum alpha-fetoprotein screening results. Prenatal Diagnosis, 11, 381–385.PubMedCrossRefGoogle Scholar
  3. American College of Medical Genetics, & American College of Obstetrics and Gynecology. (2001). Preconception and prenatal carrier screening for cystic fibrosis: Clinical and laboratory guidelines. Washington, DC: ACOG.Google Scholar
  4. American College of Medical Genetics. (2008). Guidelines for carrier screening for individuals of Ashkenazi decent. Genetic Medicine, 10(1), 54–56.CrossRefGoogle Scholar
  5. American College of Obstetrics and Gynecology Committee on Genetics. (2004). ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstetrics and Gynecology, 104, 425–428.CrossRefGoogle Scholar
  6. American College of Obstetrics and Gynecology. (2000). Genetic screening for hemoglobinopathies. Committee Opinion, 238, Washington, DC.Google Scholar
  7. American College of Obstetrics and Gynecology. (2007). Practice bulletin 77, January 2007. Screening for fetal chromosomal abnormalities. Obstetrics and Gynecology, 109, 217–226.CrossRefGoogle Scholar
  8. Ball, R. H., Caughey, A. B., Malone, F. D., Nyberg, D. A., Comstock, C. H., Saade, G. R., et al., First and Second Trimester Evaluation of Risk (FASTER) Research Consortium. (2007). First- and second-trimester evaluation of risk for Down syndrome. Obstetrics and Gynecology, 110(1), 10–17.PubMedCrossRefGoogle Scholar
  9. Bekker, H. L., Hewison, J., & Thronton, J. G. (2004). Applying decision analysis to facilitate informed decision making about prenatal diagnosis for Down syndrome: A randomized control trial. Prenatal Diagnosis, 24, 265–275.PubMedCrossRefGoogle Scholar
  10. Botkin, J. R., & Alemagno, S. (1992). Carrier screening for cystic fibrosis: A pilot study of the attitudes of pregnant women. American Journal of Public Health, 82, 723–725.PubMedCrossRefGoogle Scholar
  11. Buckman, R. (1992). How to break bad news: A guide for health professionals. Baltimore: Johns Hopkins University Press.Google Scholar
  12. Caughey, A. B., Musci, T. J., Belluomini, J., Main, D., Otto, C., & Goldberg, J. (2006). Nuchal translucency screening: How do women actually utilize the results? Prenatal Diagnosis, 27, 119–123.CrossRefGoogle Scholar
  13. Clayton, E. W., Hannig, V. L., Pfotenhauer, J. P., Parker, R. A., Campbell, P. W. I. I. I., & Phillips, J. A., III. (1996). Lack of interest by non-pregnant couples in population-based cystic fibrosis carrier screening. American Journal of Human Genetics, 58, 617–627.PubMedGoogle Scholar
  14. Clow, C. L., & Scriver, C. R. (1977). Knowledge about and attitudes toward genetic screening among high-school students: The Tay Sachs experience. Pediatrics, 59(1), 86–91.PubMedGoogle Scholar
  15. Dommergues, B., Taieb, J., Thalabard, J. C., & Frydman, R. (2001). Screening for Down syndrome using first-trimester ultrasound and second-trimester maternal serum markers in a low-risk population: A prospective longitudinal study. Ultrasound in Obstetrics and Gynecology, 18, 26–31.PubMedCrossRefGoogle Scholar
  16. Evans, M. I., Soviecki, M. A., Krivchenia, E. L., Duquette, D. A., Drugan, A., Hume, R. F., et al. (1996). Parental decisions to terminate/continue following abnormal cytogenetic prenatal diagnosis: “What” is still more important than “when”. American Journal of Medical Genetics, 61, 353–355.PubMedCrossRefGoogle Scholar
  17. Fan, H. C., Blumenfeld, 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 USA, 105(42), 16266–16271.CrossRefGoogle Scholar
  18. Fanos, J. H., & Johnson, J. P. (1995). Barriers to carrier testing for adult cystic fibrosis sibs: The importance of not knowing. American Journal of Medical Genetics, 59, 85–91.PubMedCrossRefGoogle Scholar
  19. Finer, L. B., & Henshaw, S. K. (2006). Disparities in rates of unintended pregnancy in the United States, 1994 and 2001. Perspectives on Sexual and Reproductive Health, 38(2), 90–96.PubMedCrossRefGoogle Scholar
  20. Frisbie, W. P., Echevarria, S., & Hummer, R. A. (2001). Prenatal care utilization among non-Hispanic whites, African Americans, and Mexican Americans. Maternal and Child Health Journal, 5, 21–33.PubMedCrossRefGoogle Scholar
  21. Garber, A. P., Platt, L. D., Wang, S., Jam, K., Carlson, D. E., & Rotter, J. I. (1993). Determinants of utilization of Tay-Sachs screening. Obstetrics and Gynecology, 82, 460–463.PubMedGoogle Scholar
  22. Geipel, A., Berg, C., Katalinic, A., Ludwig, M., Germer, U., Diedrich, K., et al. (2004). Different preferences for prenatal diagnosis in pregnancies following assisted reproduction versus spontaneous conception. Reproductive BioMedicine Online, 8, 119–124.PubMedCrossRefGoogle Scholar
  23. Gill, C. J., Ovadia, R., Kirschner, K., Asch, A., Munger, K., & Ormond, K. E. (2007). Presenting disability prenatally: A qualitative study of genetic service providers. Poster presentation at National Society of Genetic Counsellors Annual Education Conference, October 2007, program book, Kansas City, MO, pp. 347–348.Google Scholar
  24. Gjerris, A. C., Loft, A., Pinborg, A., Christiansen, M., & Tabor, A. (2008, April 1). Prenatal testing among women pregnant after assisted reproductive techniques in Denmark 1995–2000: A national cohort study. Human Reproduction, 23(7), 1545–1552. [Epub ahead of print].PubMedCrossRefGoogle Scholar
  25. Green, D., & Malin, J. (1988). When reality shatters parents’ dreams. Nursing, 88, 61–64.Google Scholar
  26. Grobman, W. A., Dooley, S. L., Welshman, E. E., Pergament, E., & Calhoun, E. A. (2002). Preference assessment of prenatal diagnosis for Down syndrome: Is 35 years a rational cutoff? Prenatal Diagnosis, 22(13), 1195–1200.PubMedCrossRefGoogle Scholar
  27. Gudex, C., Nielsen, B. L., & Madson, M. (2006). Why women want prenatal ultrasound in normal pregnancy. Ultrasound in Obstetrics and Gynecology, 27, 145–150.PubMedCrossRefGoogle Scholar
  28. Hegwer, G., Fairley, C., Charrow, J., & Ormond, K. E. (2006). Knowledge and attitudes toward a free education and Ashkenazi Jewish carrier testing program. Journal of Genetic Counseling, 15(1), 61–70.PubMedCrossRefGoogle Scholar
  29. 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.PubMedCrossRefGoogle Scholar
  30. James, C. A., Hadley, D. W., Holtzman, N. A., & Winklestein, J. A. (2006). How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genetics in Medicine, 8, 234–242.PubMedCrossRefGoogle Scholar
  31. Ji, E. K., Preotrious, D. H., Newton, R., Uyan, K., Hull, A. D., Hollenbach, K., et al. (2005). Effects of ultrasound on maternal-fetal bonding: A comparison of two- and three-dimensional imaging. Ultrasound in Obstetrics and Gynecology, 25, 473–477.PubMedCrossRefGoogle Scholar
  32. Keenan, K. L., Basso, D., Goldkrand, J., & Butler, W. J. (1991). Low level of maternal serum alpha-fetoprotein: Its associated anxiety and the effects of genetic counseling. American Journal of Obstetrics and Gynecology, 164, 54–56.PubMedGoogle Scholar
  33. Kessler, S. (1997). Psychological aspects of genetic counseling. XI: Nondirectiveness revisited. American Journal of Medical Genetics, 72, 164–171.PubMedCrossRefGoogle Scholar
  34. Kolker, A., & Burke, M. (1993). Grieving the wanted child: Ramifications of abortion after prenatal diagnosis of abnormality. Health Care for Women International, 14, 513–526.PubMedCrossRefGoogle Scholar
  35. Kupperman, M., Learman, L. A., Gates, E., Gregorich, S. E., Nease, R. F., Lewis, J., et al. (2006). Beyond race or ethnicity and socioeconomic status: Predictors of prenatal testing for Down syndrome. Obstetrics and Gynecology, 107, 1087–1097.CrossRefGoogle Scholar
  36. 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(4), 511–516.PubMedCrossRefGoogle Scholar
  37. Leon, I. G. (1995). Pregnancy termination due to fetal anomaly: Clinical considerations. Infant Mental Health Journal, 16, 112–126.CrossRefGoogle Scholar
  38. Leung, W. C., Chitayat, D., Seaward, G., Windrim, R., Ryan, G., Barrett, J., et al. (2001). Role of amniotic fluid interphase fluorescence in situ hybridization (FISH) analysis in patient management. Prenatal Diagnosis, 21, 327–332.CrossRefGoogle Scholar
  39. Manning, M., & Hudgins, L. (2007). Use of array-based technology in the practice of medical genetics. Genetics in Medicine, 9(9), 650–653.PubMedCrossRefGoogle Scholar
  40. Marteau, T. M., Cook, R., Kidd, J., Michie, S., Johnston, M., Slack, J., et al. (1992a). The psychological effects of false-positive results in prenatal screening for fetal abnormality: A prospective study. Prenatal Diagnosis, 12, 205–214.PubMedCrossRefGoogle Scholar
  41. Marteau, T. M., & Dormandy, E. (2001b). Facilitating informed choice in prenatal testing: How well are we doing? American Journal of Medical Genetics, 106, 185–190.PubMedCrossRefGoogle Scholar
  42. Marteau, T. M., Dormandy, E., & Michie, S. (2001a). A measure of informed choice. Health Expectations, 4, 99–108.PubMedCrossRefGoogle Scholar
  43. Marteau, T. M., Johnston, M., Kidd, J., Michie, S., & Cook, R. (1992b). Psychological models in predicting uptake of prenatal screening. Psychology and Health, 6, 13–22.CrossRefGoogle Scholar
  44. Michie, S., diLorenzo, E., Lane, R., Armstrong, K., & Sanderson, S. (2004). Genetic information leaflets: Influencing attitudes towards genetic testing. Genetics in Medicine, 6(4), 219–225.PubMedCrossRefGoogle Scholar
  45. Mueller, V. M., Huang, T., Summers, A. M., & Winsor, S. H. M. (2005). The influence of risk estimates obtained from maternal serum screening on amniocentesis rates. Prenatal Diagnosis, 25, 1253–1257.PubMedCrossRefGoogle Scholar
  46. Munger, K., Gill, C. J., Ormond, K. E., & Kirschner, K. (2007). The next exclusion debate: Assessing technology, ethics, and intellectual disability after the Human Genome Project. Mental Retardation and Developmental Disabilities Research Reviews, 13(2), 121–128.PubMedCrossRefGoogle Scholar
  47. Nagel, C., Gunn, J., Bell, R., Lewis, S., Meiser, B., Metcalfe, S., et al. (2008). Use of a decision-aid for prenatal testing of fetal abnormalities to improve women’s informed decision-making: A cluster randomized controlled trial. BJOG, 115, 339–347.CrossRefGoogle Scholar
  48. O’Connor, A. M. (1995). Validation of a decisional conflict scale. Med Decision Making, 15(1), 25–30.Google Scholar
  49. O’Connor, A., Rostrom, A., Fiset, V., Tetroe, J., Entwistle, V., Llewellyn-Thomas, H., et al. (1999). Decision aids for patients facing health treatments or screening decisions: A systematic review. BMJ, 319, 731–734.PubMedCrossRefGoogle Scholar
  50. O’Connor, A., Stacey, D., Rovner, D., Homles-Rovner, M., Tetroe, J., Llewellyn-Thomas, H., et al. (2003). Decision aids for people facing health treatment or screening decisions. Cochrane Database of Systematic Reviews, 1, No. CD001431.Google Scholar
  51. Ormond, K. E. (1997). Update and review: Maternal serum screening. Journal of Genetic Counseling, 6, 395–417.CrossRefGoogle Scholar
  52. Ormond, K. E., Sturm, E., Grobman, W., & Shulman, L. P. (2005). The longitudinal impact of FISH prenatal testing on maternal anxiety. Poster presentation at the American College of Medical Genetics Annual Clinical Genetics Meeting, March 17–20, 2005 (Grapevine, TX).Google Scholar
  53. Ralston, S. J., Wertz, D., Chelmow, D., Craigo, S. D., & Bianchi, D. W. (2001). Pregnancy outcomes after prenatal diagnosis of aneuploidy. Obstetrics and Gynecology, 97, 729–733.PubMedCrossRefGoogle Scholar
  54. Rempel, G. R., Cender, L. M., Lynam, M. J., Sandor, G. G., & Farquharson, D. (2004). Parents’ perspectives on decision making after antenatal diagnosis of congenital heart disease. Journal of Obstetric, Gynecologic, and Neonatal Nursing, 33, 64–70.PubMedCrossRefGoogle Scholar
  55. Righetti, P., Dell’Avanzo, M., Grigio, M., & Nicolini, U. (2005). Maternal/paternal antenatal attachment and fourth dimensional ultrasound technique: A preliminary report. British Journal of Psychology, 96, 129–137.PubMedCrossRefGoogle Scholar
  56. Roe v. Wade [Case], 410 U.S. 113. (1973).Google Scholar
  57. Rothman, B. K. (1993). The tentative pregnancy: Then and now. Fetal Diagnosis and Therapy, 8(Suppl. 1), 60–63.CrossRefGoogle Scholar
  58. Ruiz-Bueno, J. B., Sime, A. M., & Kitchell, M. H. (1991). Effect of receiving genetic counseling on pre-event anxiety in genetic amniocentesis patients. Pre-Perinatal Psychology, 6, 171–179.Google Scholar
  59. Rustico, M., Mastromatteo, C., Grigio, M., Maggioni, C., Gregori, D., & Nicolini, U. (2005). Two-dimensional vs two-plus four-dimensional ultrasound in pregnancy and the effect on maternal emotional status: A randomized study. Ultrasound in Obstetrics and Gynecology, 25, 468–472.PubMedCrossRefGoogle Scholar
  60. Sahoo, T., Cheung, S. W., Ward, P., Darilek, S., Patel, A., del Gaudio, D., et al. (2006). Prenatal diagnosis of chromosomal abnormalities using array based comparative genomic hybridization. Genetics in Medicine, 8, 719–727.PubMedCrossRefGoogle Scholar
  61. Salvesen, K. A., Oyen, L., Schmidt, N., Malt, U. F., & Eik-Nes, S. H. (1997). Comparison of long-term psychological responses of women after pregnancy termination due to fetal anomalies and after perinatal loss. Ultrasound in Obstetrics and Gynecology, 9, 80–85.PubMedCrossRefGoogle Scholar
  62. Sedgmen, B., McMahon, C., Cairns, D., Benzie, R. J., & Woodfield, R. L. (2006). The impact of two-dimensional versus three-dimensional ultrasound exposure on maternal-fetal attachment and maternal health behavior in pregnancy. Ultrasound in Obstetrics and Gynecology, 27, 245–251.PubMedCrossRefGoogle Scholar
  63. Seller, M., Barnes, C., Ross, S., Barby, T., & Cowmeadow, P. (1993). Grief and mid-trimester fetal loss. Prenatal Diagnosis, 13, 341–348.PubMedCrossRefGoogle Scholar
  64. Seror, V., Costet, N., & Aymé, S. (2001). Participation in maternal marker screening for Down syndrome: Contribution of the information delivered to the decision-making process. Community Genetics, 4, 158–172.PubMedCrossRefGoogle Scholar
  65. Skotko, B. G. (2005a). Prenatally diagnosed Down syndrome: Mother who continued their pregnancies evaluate their health care providers. American Journal of Obstetrics and Gynecology, 192, 670–677.PubMedCrossRefGoogle Scholar
  66. Skotko, B. G. (2005b). Mothers of children with Down syndrome reflect on their postnatal support. Pediatrics, 115(1), 64–77.PubMedGoogle Scholar
  67. Spencer, K. (1999). Second trimester prenatal screening for Down’s syndrome using alpha-fetoprotein and free beta hCG: A seven year review. BJOG, 106, 1287–1293.CrossRefGoogle Scholar
  68. Spencer, K., Spencer, C. E., Power, M., Dawson, C., & Nicolaides, K. H. (2003). Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: A review of three years prospective experience. BJOG, 110, 281–286.PubMedCrossRefGoogle Scholar
  69. Stenhouse, E. J., Crossley, J. A., Aitken, D. A., Brogan, K., Cameron, A. D., & Connor, J. M. (2004). First-trimester combined ultrasound and biochemical screening for Down syndrome in routine clinical practice. Prenatal Diagnosis, 24(10), 774–780.PubMedCrossRefGoogle Scholar
  70. Sturm, E. L., & Ormond, K. E. (2004). Adjunct prenatal testing: Patient decisions regarding ethnic carrier screening and fluorescence In Situ hybridization. Journal of Genetic Counseling, 13, 45–63.PubMedCrossRefGoogle Scholar
  71. Sturm, E. L., Grobman, W., Shulman, L. P., & Ormond, K. E. (2005). Decision-making regarding FISH with Amniocentesis. Platform presentation at the American College of Medical Genetics Annual Clinical Genetics Meeting, March 17–20, 2005 (Grapevine, TX).Google Scholar
  72. Tercyak, K. P., Johnson, S. B., Roberst, S. F., & Cruz, A. C. (2001). Pyschological response to prenatal genetic counseling and amniocentesis. Patient Education and Counseling, 43(1), 73–84.PubMedCrossRefGoogle Scholar
  73. Tsoi, M. M., Hunter, M., Pearce, M., Chudleigh, P., & Campbell, S. (1987). Ultrasound scanning in women with raised serum alpha-fetoprotein: Short term psychological effect. Journal of Psychosomatic Research, 31, 35–39.PubMedCrossRefGoogle Scholar
  74. Tucker, A. (1997). The efficacy of FISH analysis for common aneuploidies in relieving the anxiety of patients awaiting prenatal diagnosis results. Master Degree Thesis, Northwestern University, Chicago.Google Scholar
  75. van den Berg, M., Timmermans, D. R., Kate, L. P., van Vugt, J. M., & van der Wal, G. (2005). Accepting or declining the offer of prenatal screening for congenital defects: Test uptake and womens’ reasons. Prenatal Diagnosis, 25, 84–90.PubMedCrossRefGoogle Scholar
  76. Vergani, P., Locatelli, A., Biffi, A., Ciriello, E., Zagerlla, A., Pezzullo, J. C., et al. (2002). Factors affecting the decision regarding amniocentesis in women at genetic risk because of age 35 years or older. Prenatal Diagnosis, 22, 769–774.PubMedCrossRefGoogle Scholar
  77. Weil, J., Ormond, K., Peters, J., Peters, K., Biesecker, B. B., LeRoy, B. (2006). The relationship of nondirectiveness to genetic counseling: Report of a workshop at the 2003 NSGC Annual Education Conference. J Genet Counseling, 15(2), 85–93.Google Scholar
  78. Weinans, M. J. N., Huijssoon, A. M. G., Tymstra, T., Gerrits, M. C. F., Beekhuis, J. R., & Mantingh, A. (2000). How women deal with the results of serums screening for Down syndrome in the second trimester of pregnancy. Prenatal Diagnosis, 20, 705–708.PubMedCrossRefGoogle Scholar
  79. White, M. T. (1997). “Respect for autonomy” in genetic counseling: An analysis and a proposal. Journal of Genetic Counseling, 6, 297–313.PubMedCrossRefGoogle Scholar
  80. Wray, A. M., Ghidini, A., Alvis, C., Hodor, J., Landy, H. J., & Poggi, S. H. (2005). The impact of first trimester screening on AMA patients’ uptake of invasive testing. Prenatal Diagnosis, 25, 350–353.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Kelly E. Ormond
    • 1
  1. 1.Stanford UniversityStanfordUSA

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