Journal of Genetic Counseling

, Volume 23, Issue 1, pp 72–78 | Cite as

NIPT in a Clinical Setting: An analysis of Uptake in the First Months of Clinical Availability

  • Joanne B. Taylor
  • Valerie Y. Chock
  • Louanne Hudgins
Original Research


The objective of our study was to describe the clinical experience in offering noninvasive prenatal testing (NIPT) for aneuploidy to pregnant patients, highlighting the clinical utility, barriers to acceptance and limitations of this novel test. Data were collected from 961 patients offered NIPT from 3/1/12 to 9/30/12. Univariate and multivariate logistic regression analysis was performed. Twenty-eight percent of patients elected NIPT and 72 % declined. Women continue to elect less sensitive and less specific screening through biochemical markers and nuchal translucency. Women considering all options at average risk for aneuploidy were less likely to accept NIPT testing than women who had a risk adjustment from an ultrasound marker or routine screening test. In our multi-ethnic population, Filipina women were significantly less likely to elect NIPT compared to other ethnicities. Five percent of NIPT ordered failed analysis. Several chromosome abnormalities were detected through CVS or amniocentesis that would not have been detected by NIPT. Even though NIPT offers a non-invasive, highly sensitive and specific analysis for aneuploidy, the majority of women in our study declined this option. NIPT should be offered in the context of genetic counseling so that women understand the limitations of the testing and make an educated decision about the testing option best suited to their situation.


NIPT Cell-free fetal DNA Prenatal genetic counseling Uptake Prenatal screening 


Conflict of Interest

Our institution recruited patients for Ariosa Diagnostic’s clinical validation study. We were given $8,000 to fund travel to conferences in exchange for this recruitment.


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Copyright information

© National Society of Genetic Counselors, Inc. 2013

Authors and Affiliations

  • Joanne B. Taylor
    • 1
  • Valerie Y. Chock
    • 2
  • Louanne Hudgins
    • 1
    • 3
  1. 1.Perinatal Genetic Counseling ClinicLucile Packard Children’s Hospital at StanfordStanfordUSA
  2. 2.Department of Pediatrics, Division of Neonatal and Developmental MedicineStanford University School of Medicine and Lucile Packard Children’s HospitalStanfordUSA
  3. 3.Department of Pediatrics, Division of Medical GeneticsStanford UniversityStanfordUSA

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