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

  • Professional Development Paper
  • Published:
Journal of Genetic Counseling

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.

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References

  • American College of Obstetricians and Gynecologists. (2007a). Practice bulletin No. 77: screening for fetal chromosomal abnormalities. Obstetrics and Gynecology, 109, 217–227.

    Article  Google Scholar 

  • American College of Obstetricians and Gynecologists. (2007b). Practice bulletin No. 88: invasive prenatal testing for aneuploidy. Obstetrics and Gynecology, 110, 1459–1467.

    Article  Google Scholar 

  • American College of Obstetricians and Gynecologists. (2009). Practice bulletin No. 101: ultrasonography in pregnancy. Obstetrics and Gynecology, 113, 451–461.

    Article  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • Canadian Collaborative CVS-Amniocentesis Clinical Trial Group. (1989). Multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Lancet, 1, 1–6.

    Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Nicolaides, K. H., Health, V., & Cicero, S. (2002). Increased fetal nuchal translucency at 11–14 weeks. Prenatal Diagnosis, 22, 308–315.

    Article  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Nyberg, D. A., & Souter, V. L. (2001). Sonographic markers of fetal trisomies: second trimester. Journal of Ultrasound in Medicine, 20, 655–674.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Wald, N. J., & Rish, S. (2005). Prenatal screening for Down syndrome and neural tube defects in twin pregnancies. Prenatal Diagnosis, 25, 740–745.

    Article  PubMed  Google Scholar 

  • 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.

    CAS  PubMed  Google Scholar 

  • 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 

  • Wapner, R. J. (2005). Invasive prenatal diagnostic techniques. Seminars in Perinatology, 29, 401–404.

    Article  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Ob/Gyn, Division of Gynecologic Oncology, The University of Texas Health Science Center at Houston, 6410 Fannin St, Suite 1217, Houston, TX, 77030, USA

    K. L. Wilson

  2. Department of Pediatrics, The University of Texas Health Science Center at Houston, 6410 Fannin Street, Suite 1217, Houston, TX, 77030, USA

    S. J. Noblin & C. N. Singletary

  3. Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, CB# 7516, Chapel Hill, NC, 27599-7516, USA

    P. Devers

  4. Deparment of Ob/Gyn, Division of Maternal Fetal Medicine, The University of Texas Health Science Center at Houston, 5656 Kelley Street, Houston, TX, 77026, USA

    A. Harbison

  5. Boston University School of Medicine, 85 E. Newton St, M913, Boson, MA, 02118, USA

    M. W. Campion

  6. EvergreenHealth Maternal Fetal Medicine, 12333 NE 130th Lane, Suite Tan 240, Kirkland, WA, 98034, USA

    K. Devary

  7. Department of Ob/Gyn, Division of Maternal Fetal Medicine, The University of Texas Health Science Center at Houston, 6410 Fannin St, Suite 1217, Houston, TX, 77030, USA

    J. L. Czerwinski, J. M. Hoskovec & C. M. Sullivan

Authors
  1. K. L. Wilson
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  2. J. L. Czerwinski
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  3. J. M. Hoskovec
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  4. S. J. Noblin
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  5. C. M. Sullivan
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  6. A. Harbison
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  7. M. W. Campion
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  8. K. Devary
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  9. P. Devers
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  10. C. N. Singletary
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Correspondence to K. L. Wilson.

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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

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  • DOI: https://doi.org/10.1007/s10897-012-9545-3

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