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


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.


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


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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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