Link to the University of Pittsburgh Homepage
Link to the University Library System Homepage Link to the Contact Us Form

Understanding parental opinions on whole exome sequencing in the prenatal setting

Kalynchuk, Eve (2015) Understanding parental opinions on whole exome sequencing in the prenatal setting. Master's Thesis, University of Pittsburgh. (Unpublished)

Submitted Version

Download (302kB)


Whole exome sequencing is currently used for the diagnosis of genetic conditions in pediatric and adult patients. Prenatal genetic testing is commonplace, but clinical prenatal whole exome sequencing is currently not available by commercial laboratories. Controversy surrounds the ethical issues of knowing a fetus’s genetic future and the implications it could have for termination and family planning. While ongoing discussion occurs whether prenatal whole exome sequencing should be offered, there are no studies assessing parental opinions of prenatal whole exome sequencing. A questionnaire focusing on this was distributed to individuals that were pursuing first trimester genetic screening. The results of the questionnaire were analyzed using descriptive statistics. Results showed that 83.1% of participants thought prenatal whole exome sequencing should be offered and 53.5% (with an additional 40.1% neutral) were interested in having prenatal whole exome sequencing for their fetus. Only 17.2% of participants responded that they would be willing to have amniocentesis in order to have prenatal whole exome sequencing, and 30.6% were neutral towards amniocentesis. The vast majority of participants were interested in receiving all types of results, including: conditions of childhood and adult onset that are treatable, non-treatable, and that may shorten lifespan. In regards to family planning, 60.1% of participants stated the results of prenatal whole exome sequencing may affect their family planning if they are at risk to have a future child with a health problem, and 32.8% (with 20.2% neutral) stated that results of prenatal whole exome sequencing may affect their decision to continue the pregnancy. The majority of participants (59.7%) preferred a maximum turnaround time of three weeks or less for prenatal whole exome sequencing which is much shorter than currently reported turnaround times. Although interest is expressed for prenatal whole exome sequencing, the current available technologies for fetal DNA capture and whole exome sequencing turnaround time is not desirable for expectant parents. The public health significance of this study is that prenatal whole exome sequencing will likely become clinically available as technologies continue to improve. Understanding the public’s views on the testing is important in order to predict uptake and any perceived barriers.


Social Networking:
Share |


Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Kalynchuk, Eveejk24@pitt.eduEJK24
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairRajkovic, Aleksandarrajkovic@upmc.eduALR110
Committee MemberShaffer, John Rjrs51@pitt.eduJRS51
Committee MemberSaller, Devereux N. sallerdn@mail.magee.eduDNS26
Committee MemberParker, Lisa S.lisap@pitt.eduLISAP
Date: 29 June 2015
Date Type: Publication
Defense Date: 10 April 2015
Approval Date: 29 June 2015
Submission Date: 6 April 2015
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 55
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Prenatal Whole Exome Sequencing
Date Deposited: 29 Jun 2015 13:58
Last Modified: 19 Dec 2016 14:42


Monthly Views for the past 3 years

Plum Analytics

Actions (login required)

View Item View Item