Journal of Genetic Counseling

, Volume 22, Issue 1, pp 4–15 | Cite as

NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy

  • K. L. Wilson
  • J. L. Czerwinski
  • J. M. Hoskovec
  • S. J. Noblin
  • C. M. Sullivan
  • A. Harbison
  • M. W. Campion
  • K. Devary
  • P. Devers
  • C. N. Singletary
Professional Development Paper

Abstract

The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient’s entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.

Keywords

Prenatal screening Prenatal testing Chromosome aneuploidy Genetic counseling National Society of Genetic Counselors Practice guidelines 

References

  1. American College of Obstetricians and Gynecologists. (2007a). Practice bulletin No. 77: screening for fetal chromosomal abnormalities. Obstetrics and Gynecology, 109, 217–227.CrossRefGoogle Scholar
  2. American College of Obstetricians and Gynecologists. (2007b). Practice bulletin No. 88: invasive prenatal testing for aneuploidy. Obstetrics and Gynecology, 110, 1459–1467.CrossRefGoogle Scholar
  3. American College of Obstetricians and Gynecologists. (2009). Practice bulletin No. 101: ultrasonography in pregnancy. Obstetrics and Gynecology, 113, 451–461.Google Scholar
  4. Barkai, G., Goldman, B., Ries, L., Chaki, R., Zer, T., & Cuckle, H. (1993). Expanding multiple marker screening for Down’s syndrome to include Edward’s syndrome. Prenatal Diagnosis, 13, 843–850.PubMedCrossRefGoogle Scholar
  5. Benn, P. A., Fang, M., Egan, J. F., Horne, D., & Collins, R. (2003). Incorporation of inhibin-A in second-trimester screening for Down syndrome. Obstetrics and Gynecology, 101, 451–454.PubMedCrossRefGoogle Scholar
  6. Benn, P. A., Borrell, A., Crossley, J et al. (2011). Aneuploidy screening: a position statement on behalf of the Board of the International Society for Prenatal Diagnosis. Prenatal Diagnosis, 31, 519–522.Google Scholar
  7. Bianchi, D. W., Platt, L. D., Goldberg, J. D., Abuhamad, A. Z., Sehnert, A. J., & Rava, R. P. (2012). Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics and Gynecology, 119, 1–12.CrossRefGoogle Scholar
  8. Bilardo, C. M., Timmerman, E., Pajkrt, E., & van Maarle, M. (2010). Increased nuchal translucency in euploid fetuses—what should we be telling the parents? Prenatal Diagnosis, 30, 93–102.PubMedCrossRefGoogle Scholar
  9. Brambati, B., Simon, G., Travi, M., Danesino, C., Tului, L., Privitera, O., & Primignani, P. (1992). Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: efficiency, reliability, and risks on 317 completed pregnancies. Prenatal Diagnosis, 12, 789–799.PubMedCrossRefGoogle Scholar
  10. Canadian Collaborative CVS-Amniocentesis Clinical Trial Group. (1989). Multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Lancet, 1, 1–6.Google Scholar
  11. Canadian Early and Mid-trimester Amniocentesis Trial (CEMAT) group. (1998). Randomized trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet, 351, 242–247.CrossRefGoogle Scholar
  12. Centers for Disease Control and Prevention. (1995). Chorionic villus sampling and amniocentesis: recommendations for prenatal counseling. Morbidity and Mortality Weekly Report, 44(RR-9), 1–12.Google Scholar
  13. Cole, L. A., Shahabi, S., Oz, U. A., Bahado-Singh, R. O., & Mahoney, M. J. (1999). Hyperglycosylated human chorionic gonadotropin (invasive trophoblast antigen) immunoassay: a new basis for gestational Down syndrome screening. Clinical Chemistry, 45, 2109–2119.PubMedGoogle Scholar
  14. Comstock, C. H., Malone, F. D., Ball, R. H., Nyberg, D. A., Saade, G. R., Berkowitz, R. L., & D’Alton, M. E. (2006). Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester serum screening? American Journal of Obstetrics and Gynecology, 195, 843–847.PubMedCrossRefGoogle Scholar
  15. Cuckle, H. S., Malone, F. D., Wright, D., Porter, F., Nyberg, D., Comstock, C. H., & D’Alton, M. E. (2008). Contingent screening for Down syndrome- results from the FaSTER trial. Prenatal Diagnosis, 28, 89–94.PubMedCrossRefGoogle Scholar
  16. Devers, P.L., Cronister, A., Ormond, K.E., Facio, F., Brasington, C.K., & Flodman, P. (2012). Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. http://www.nsgc.org/Portals/0/Advocacy/NSGC%20Noninvasive%20Prenatal%20Testing%204-17-2012.pdf
  17. Driscoll, D. A., & Gross, S. J. (2008). American College of Medical Genetics practice guidelines: first trimester diagnosis and screening for fetal aneuploidy. Genetics in Medicine, 10, 73–75.PubMedCrossRefGoogle Scholar
  18. Eddleman, K., Malone, F., Sullivan, L., Dukes, K., Berkowitz, R., Kharbutli, Y., D’Alton, M. E., & For the First and Second Trimester Evaluation of Risk (FASTER) Trial Research Consortium. (2006). Pregnancy loss rates after midtrimester amniocentesis. American Journal of Obstetrics and Gynecology, 108, 1067–1072.CrossRefGoogle Scholar
  19. Haddow, J. E., Palomaki, G. E., Knight, G. J., Foster, D. L., & Neveux, L. M. (1998). Second trimester screening for Down’s syndrome using maternal serum dimericinhibin A. Journal of Medical Screening, 5, 115–199.PubMedGoogle Scholar
  20. Hunt, L. M., de Voogd, K. B., & Catendeda, H. (2005). The routine and the traumatic in prenatal genetic diagnosis: does clinical information impact patient decision-making? Patient Education and Counseling, 56, 302–312.PubMedCrossRefGoogle Scholar
  21. Jackson, L. G., Zachary, J. M., Fowler, S. E., Desnick, R. J., Golbus, M. S., Ledbetter, D. H., & 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. The New England Journal of Medicine, 327, 594–598.PubMedCrossRefGoogle Scholar
  22. Kagan, K. O., Cicero, S., Staboulidou, I., Wirght, D., & Nicolaides, K. H. (2009). Fetal nasal bone in screening for trisomies 21, 18, and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound in Obstetrics & Gynecology, 33, 259–264.CrossRefGoogle Scholar
  23. Kupperman, 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.CrossRefGoogle Scholar
  24. Ledbetter, D. H., Zachary, J. M., Simpson, J. L., Golbus, M. S., Pergament, E., Jackson, L., & De La Cruz, F. (1992). Cytogenetic results from the US collaborative study on CVS. Prenatal Diagnosis, 12, 317–345.PubMedCrossRefGoogle Scholar
  25. Malone, F. D., Canick, J. A., Ball, R. H., Nuberg, D. A., Comstock, C. H., Bukowski, R., D’Alton, M. E., & For the First-and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. (2005). First-trimester or second-trimester screening, or both, for Down’s syndrome. The New England Journal of Medicine, 352, 2001–2011.CrossRefGoogle Scholar
  26. Nicolaides, K. H., Health, V., & Cicero, S. (2002). Increased fetal nuchal translucency at 11–14 weeks. Prenatal Diagnosis, 22, 308–315.PubMedCrossRefGoogle Scholar
  27. Norton, M. E., Brar, H., Weiss, J., Karimi, A., Laurent, L. C., Caughery, A. B., & Song, K. (2012). Non-invasive chromosomal evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. American Journal of Obstetrics and Gynecology, 207, 1.e1–1.e8.CrossRefGoogle Scholar
  28. Nyberg, D. A., & Souter, V. L. (2001). Sonographic markers of fetal trisomies: second trimester. Journal of Ultrasound in Medicine, 20, 655–674.PubMedGoogle Scholar
  29. Ozkaya, O., Sezik, M., Ozbasar, D., & Kaya, H. (2010). Abnormal ductusvenosus flow and tricuspid regurgitation at 11–14 weeks’ gestation have high positive predictive values for increased risk in first-trimester combined screening test: results of a pilot study. Taiwanese Journal of Obstetrics and Gynecology, 49, 145–150.PubMedCrossRefGoogle Scholar
  30. Palomaki, G. E., Steinort, K., Knight, G. J., & Haddow, J. E. (2006). Comparing three screening strategies for combining first- and second- trimester Down syndrome markers. Obstetrics and Gynecology, 107, 367–375.PubMedCrossRefGoogle Scholar
  31. Palomaki, G. E., Deciu, C., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., Canick, J. A. (2012). DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genetics in Medicine, 1–10.Google Scholar
  32. Pepin, M., Atkinson, M., Starman, B., & Byers, P. (1997). Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenatal Diagnosis, 17, 559–570.PubMedCrossRefGoogle Scholar
  33. Platt, L. D., Greene, N., Johnson, A., Zachary, J., Thom, E., Krantz, D., & First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group. (2004). Sequential pathways of testing after first-trimester screening for trisomy 21. Obstetrics and Gynecology, 104, 661–666.PubMedCrossRefGoogle Scholar
  34. Sanders, R. C., Blackmon, L. R., Hogge, W. A., Spevak, P., & Wulfsberg, E. A. (Eds.). (2002). Structural fetal abnormalities: The total picture (2nd ed.). Missouri: Mosby, Inc.Google Scholar
  35. Spencer, K., & Nicolaides, K. H. (2002). A first trimester trisomy 13/trisomy 18 algorithm combining fetal nuchal translucency thickness, maternal serum free beta-hCG and PAPP-A. Prenatal Diagnosis, 22, 877–879.PubMedCrossRefGoogle Scholar
  36. Spencer, K., Ong, C., Skentou, H., Liao, A. W., & Nicolaides, K. H. (2000). Screening for trisomy 13 by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10–14 weeks of gestation. Prenatal Diagnosis, 20, 411–416.PubMedCrossRefGoogle Scholar
  37. Sundberg, K., Bang, J., Smidt-Jensen, S., Brocks, V., Lundsteen, C., Parner, J., & Philip, J. (1997). Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling. Lancet, 350, 697–703.PubMedCrossRefGoogle Scholar
  38. Taslimi, M. M., Acosta, R., Chueh, J., Hudgins, L., Hunter, K., Druzin, M., & Chitkara, U. (2005). Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics. Journal of Ultrasound in Medicine, 24, 811–815.PubMedGoogle Scholar
  39. Wald, N. J., & Rish, S. (2005). Prenatal screening for Down syndrome and neural tube defects in twin pregnancies. Prenatal Diagnosis, 25, 740–745.PubMedCrossRefGoogle Scholar
  40. Wald, N. J., Rodeck, C., Hackshaw, A. K., Walters, J., Chitty, L., & Makinson, A. M. (2003). First and second trimester antenatal screening for Down’s syndrome: the results of the serum, urine, and ultrasound screening study (SURUSS). Journal of Medical Screening, 10, 56–104.PubMedCrossRefGoogle Scholar
  41. Wald, N. J., Rodeck, C., Hackshaw, A. K., & Rudnicka, A. (2004). SURUSS in perspective. British Journal of Obstetrics and Gynaecology, 111, 521–531.PubMedCrossRefGoogle Scholar
  42. Wapner, R. J. (2005). Invasive prenatal diagnostic techniques. Seminars in Perinatology, 29, 401–404.PubMedCrossRefGoogle Scholar
  43. Wapner, R. J., Thorn, E., Simpson, J. L., Pergament, E., Silver, R., Filkins, K., Jackson, L., & For the First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group. (2003). First-trimester screening for trisomies 21 and 18. The New England Journal of Medicine, 349, 1405–1413.PubMedCrossRefGoogle Scholar
  44. Winsor, E. J. T., Tomkins, D. J., Kalousek, D., Farrell, S., Wyatt, P., Fan, Y., & Wilson, R. D. (1999). Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial (CEMAT). Prenatal Diagnosis, 19, 620–627.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  • K. L. Wilson
    • 1
  • J. L. Czerwinski
    • 7
  • J. M. Hoskovec
    • 7
  • S. J. Noblin
    • 2
  • C. M. Sullivan
    • 7
  • A. Harbison
    • 4
  • M. W. Campion
    • 5
  • K. Devary
    • 6
  • P. Devers
    • 3
  • C. N. Singletary
    • 2
  1. 1.Department of Ob/Gyn, Division of Gynecologic OncologyThe University of Texas Health Science Center at HoustonHoustonUSA
  2. 2.Department of PediatricsThe University of Texas Health Science Center at HoustonHoustonUSA
  3. 3.Department of Obstetrics and Gynecology, Division of Maternal-Fetal MedicineUniversity of North Carolina at Chapel HillChapel HillUSA
  4. 4.Deparment of Ob/Gyn, Division of Maternal Fetal MedicineThe University of Texas Health Science Center at HoustonHoustonUSA
  5. 5.Boston University School of MedicineBosonUSA
  6. 6.EvergreenHealth Maternal Fetal MedicineKirklandUSA
  7. 7.Department of Ob/Gyn, Division of Maternal Fetal MedicineThe University of Texas Health Science Center at HoustonHoustonUSA

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