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.
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American College of Obstetricians and Gynecologists. (2007a). Practice bulletin No. 77: screening for fetal chromosomal abnormalities. Obstetrics and Gynecology, 109, 217–227.
American College of Obstetricians and Gynecologists. (2007b). Practice bulletin No. 88: invasive prenatal testing for aneuploidy. Obstetrics and Gynecology, 110, 1459–1467.
American College of Obstetricians and Gynecologists. (2009). Practice bulletin No. 101: ultrasonography in pregnancy. Obstetrics and Gynecology, 113, 451–461.
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.
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.
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.
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.
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.
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.
Canadian Collaborative CVS-Amniocentesis Clinical Trial Group. (1989). Multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Lancet, 1, 1–6.
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.
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.
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.
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.
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.
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. https://doi.org/www.nsgc.org/Portals/0/Advocacy/NSGC%20Noninvasive%20Prenatal%20Testing%204-17-2012.pdf
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.
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.
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.
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.
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.
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.
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.
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.
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.
Nicolaides, K. H., Health, V., & Cicero, S. (2002). Increased fetal nuchal translucency at 11–14 weeks. Prenatal Diagnosis, 22, 308–315.
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.
Nyberg, D. A., & Souter, V. L. (2001). Sonographic markers of fetal trisomies: second trimester. Journal of Ultrasound in Medicine, 20, 655–674.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Wald, N. J., & Rish, S. (2005). Prenatal screening for Down syndrome and neural tube defects in twin pregnancies. Prenatal Diagnosis, 25, 740–745.
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.
Wald, N. J., Rodeck, C., Hackshaw, A. K., & Rudnicka, A. (2004). SURUSS in perspective. British Journal of Obstetrics and Gynaecology, 111, 521–531.
Wapner, R. J. (2005). Invasive prenatal diagnostic techniques. Seminars in Perinatology, 29, 401–404.
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.
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.
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Wilson, K.L., Czerwinski, J.L., Hoskovec, J.M. et al. NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy. J Genet Counsel 22, 4–15 (2013). https://doi.org/10.1007/s10897-012-9545-3
- Prenatal screening
- Prenatal testing
- Chromosome aneuploidy
- Genetic counseling
- National Society of Genetic Counselors
- Practice guidelines