Journal of Genetic Counseling

, Volume 27, Issue 5, pp 1148–1156 | Cite as

Pregnant Women’s Perspectives on Expanded Carrier Screening

  • Lauren PropstEmail author
  • Gwendolyn Connor
  • Megan Hinton
  • Tabitha Poorvu
  • Jeffrey Dungan
Original Research


Expanded carrier screening (ECS) is a relatively new carrier screening option that assesses many conditions simultaneously, as opposed to traditional ethnicity-based carrier screening for a limited number of conditions. This study aimed to explore pregnant women’s perspectives on ECS, including reasons for electing or declining and anxiety associated with this decision-making. A total of 80 pregnant women were surveyed from Northwestern Medicine’s Clinical Genetics Division after presenting for aneuploidy screening. Of the 80 participants, 40 elected and 40 declined ECS. Trends regarding reasons for electing or declining ECS include ethnicity, desire for genetic risk information, lack of family history, perceived likelihood of being a carrier, and perceived impact on reproductive decisions. Individuals who declined ECS seemed to prefer ethnicity-based carrier screening and believed that ECS would increase their anxiety, whereas individuals who elected ECS seemed to prefer more screening and tended to believe that ECS would reduce their anxiety. These findings provide insight on decision-making with regard to ECS and can help guide interactions that genetic counselors and other healthcare providers have with patients, including assisting patients in the decision-making process.


Expanded carrier screening Universal carrier screening Pregnant women Carrier screening Genetic counseling 



The authors would like to express gratitude to all of the people who were involved in the completion of this study. They would like to thank the Northwestern University Graduate Program in Genetic Counseling, who provided funding for this Master’s thesis project. In addition, they would like to express great appreciation to the genetic counselors at Northwestern Medicine, who provided essential assistance with regard to participant recruitment. Lastly, they would like to thank all of the patients who elected to participate in this study.

This study was performed by first author Lauren Propst as part of fulfilling a Master of Science in Genetic Counseling training program.

Compliance with Ethical Standards

Conflict of Interest

Authors Gwendolyn Connor and Jeffrey Dungan are currently employed by Insight Medical Genetics. Insight Medical Genetics did not provide any funding for this study, and they did not perform any of the genetic testing for participants in the study. Authors Lauren Propst, Megan Hinton, and Tabitha Poorvu declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Supplementary material

10897_2018_232_MOESM1_ESM.pdf (253 kb)
Online Resource 1 (PDF 252kb)
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Online Resource 2 (PDF 182kb)
10897_2018_232_MOESM3_ESM.pdf (82 kb)
Online Resource 3 (PDF 82kb)
10897_2018_232_MOESM4_ESM.pdf (125 kb)
Online Resource 4 (PDF 124kb)


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Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  1. 1.Center for Maternal and Fetal HealthNorthShore University HealthSystemEvanstonUSA
  2. 2.Insight Medical GeneticsChicagoUSA
  3. 3.Division of Clinical Genetics, Department of Obstetrics and GynecologyNorthwestern University Feinberg School of MedicineChicagoUSA
  4. 4.Boston Children’s HospitalBostonUSA

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