Author ORCID Identifier

0000-0002-9439-9707

Date of Graduation

5-2019

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Blair K. Stevens, MS, CGC

Committee Member

Myla Ashfaq, MS, CGC

Committee Member

Laura S. Farach, MD, FACMG

Committee Member

S. Shahrukh Hashmi, MD, MPH, PhD

Committee Member

Anthony Johnson, DO

Committee Member

Claire N. Singletary, MS, CGC

Abstract

After identification of one or more structural abnormalities in a fetus, pregnant women are offered a host of different testing options to identify a possible genetic cause for the structural abnormality(ies). When considering what type of test to undertake, there is limited information on the diagnostic yield of the varying testing options. Some women may miss an opportunity to gain the information they are seeking or make a less informed decision when they choose a testing option after identification of a structural abnormality due to this lack of information. This study aimed to identify the potential diagnostic yield of all currently available prenatal testing options in the presence of a structural abnormality through a retrospective chart review of a postnatal population of infants with structural abnormalities. Of 791 patients with at least one structural abnormality, 691 patients underwent genetic testing and 222 had a genetic aberration that explained their phenotype. Chromosomal microarray had the highest potential diagnostic yield across the entire cohort and among individuals with multiple structural abnormalities, 26.8% (95% CI: 23.5 - 30.3) and 29.0% (95% CI: 25.3 - 33.3) respectively, which reached significance (p

Keywords

diagnostic yield, prenatal testing, non-invasive prenatal testing, non-invasive prenatal screening, prenatal WES, prenatal CMA, diagnostic testing, structural abnormalities

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