Journal of Genetic Counseling

, Volume 22, Issue 3, pp 291–295

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

  • Patricia L. Devers
  • Amy Cronister
  • Kelly E. Ormond
  • Flavia Facio
  • Campbell K. Brasington
  • Pamela Flodman
Professional Development Paper

Abstract

The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.

Keywords

Noninvasive prenatal diagnosis Aneuploidy screening Prenatal diagnosis Down syndrome Trisomy 13 Trisomy 18 Trisomy 21 Monosomy X Position Statement The National Society of Genetic Counselors Cellfree fetal DNA (cffDNA) 

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Copyright information

© National Society of Genetic Counselors, Inc. 2013

Authors and Affiliations

  • Patricia L. Devers
    • 1
    • 2
  • Amy Cronister
    • 3
  • Kelly E. Ormond
    • 4
  • Flavia Facio
    • 5
  • Campbell K. Brasington
    • 6
  • Pamela Flodman
    • 7
  1. 1.University of North CarolinaChapel HillUSA
  2. 2.Verinata Health, IncSan CarlosUSA
  3. 3.Integrated GeneticsDushoreUSA
  4. 4.Department of Genetics and Stanford Center for Biomedical EthicsStanford UniversityStanfordUSA
  5. 5.BronxvilleUSA
  6. 6.Levine Children’s Hospital at Carolinas Medical CenterCharlotteUSA
  7. 7.Division of Genetics and Metabolism, Department of PediatricsUniversity of CaliforniaIrvineUSA

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