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Magee-Womens hospital of UPMC's clinical experience with non-invasive prenatal esting

Petersen, Joya (2018) Magee-Womens hospital of UPMC's clinical experience with non-invasive prenatal esting. Master's Thesis, University of Pittsburgh. (Unpublished)

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The clinical introduction of Non-invasive Prenatal Testing (NIPT) in the United States in 2011 significantly impacted the field of prenatal genetic screening. Through molecular analysis of cell-free fetal DNA extracted from maternal serum samples, NIPT provides pregnant women with their risk to have a child with the most common aneuploidies seen in live born children: trisomy 21, 18, 13, and sex chromosome abnormalities. Moreover, the detection rates for the conditions screened for by NIPT are higher than those offered by prior prenatal genetic screening tests and NIPT poses no additional risk to the fetus unlike prenatal genetic diagnostic testing (i.e., chorionic villi sampling and amniocentesis). Clinical utilization of NIPT to screen for fetal aneuploidy is rapidly growing; multiple professional organizations have released position statements recommending that NIPT be offered to all women as a genetic screening option.

With the rapid expansion of NIPT it is important to assess the clinical outcome of this emerging technology to inform genetic counseling practices and policy development. This study is a retrospective medical records review of data from women who had NIPT through Magee-Womens Hospital of UPMC’s Center for Medical Genetics and Genomics, a high-risk referral center, from January 1, 2014 to December 31, 2016. A total of 2,589 women had non-invasive prenatal testing (NIPT) and 95 women (3.67%) from the original cohort who received a positive or failed result were included in the analysis. Our results showed that the positive predictive value for trisomy 21 was 100% (95% CI:90.5-100), 66.7% (95% CI:9.4-99.2) for trisomy 18, and 50% (95% CI: 98.7) for trisomy 13. The NIPT fail rate was 1.62% and concordant with the test fail rates published by laboratories and prior studies. Continued analysis of the clinical outcomes and utilization of NIPT should be performed in order to provide more accurate genetic counseling, inform universal screening practices, and improve prenatal care of pregnancies with aneuploidy. This study is relevant to public health because it contributes to current knowledge of the clinical outcomes of NIPT to aid healthcare professionals in assessing patients’ risks for fetal aneuploidy.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Petersen, Joyajjp72@pitt.edujjp72
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairGrubs,
Committee MemberFraer,
Committee MemberKrafty,
Committee MemberRajkovic,
Committee MemberYatsenko,
Date: 28 June 2018
Date Type: Publication
Defense Date: 3 April 2018
Approval Date: 28 June 2018
Submission Date: 4 April 2018
Access Restriction: 1 year -- Restrict access to University of Pittsburgh for a period of 1 year.
Number of Pages: 79
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: NIPT, Non-invasive Prenatal Testing, fetal aneuploidy, pregnancy screening, prenatal screening, genetic counseling
Date Deposited: 28 Jun 2018 20:12
Last Modified: 01 May 2019 05:15


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