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Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening
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FitzGerald, Cali. Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening. Retrieved from https://doi.org/doi:10.7282/t3-1b7t-7w69

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TitleOutcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening
NameFitzGerald, Cali (author); Ashkinadze, Elena (chair); Khan, Shama (member); Shingala, Pranali (member); Rutgers University; School of Graduate Studies
Date Created2022
Other Date2022-05 (degree)
SubjectGenetics, Cell-free DNA, Genetics, Prenatal, Sex chromosome aneuploidy, Aneuploidy, Sex chromosomes
Extent35 pages : illustrations
DescriptionBackground: Cell-free DNA screening (cfDNA), also referred to as non-invasive prenatal screening (NIPS), is utilized to screen for fetal chromosomal aneuploidies during pregnancy, including sex chromosome aneuploidies (SCAs). All patients within our center are offered diagnostic testing following a positive NIPS for an SCA, but not all patients pursue this testing. Objectives: The primary objective of our study is to understand how often patients undergo confirmatory diagnostic testing when NIPS is positive for an SCA and the outcomes. We also describe the outcomes of cases where patients had a normal NIPS result, however the predicted fetal sex is discrepant from the fetal sex by ultrasound. Methods: This is a retrospective chart review of patients with an abnormal NIPS for SCA or discrepant fetal sex at a single academic medical center over a period of eight years. Results: Fifty-six patients had a positive or inconclusive NIPS for SCA and 64.3% pursued confirmatory testing either via prenatal (19 patients) or postnatal (17 patients) diagnostic testing. For the cases (36/56) where confirmatory diagnostic information was available, an SCA was confirmed in 44.4%. A maternal SCA was discovered to be the cause of a positive NIPS in two cases. The positive predictive value (PPV) of NIPS for all SCAs, Turner, triple X, Klinefelter, Jacobs, and inconclusive results were 41.7%, 27.8%, 50%, 100%, 100%, and 0%, respectively. Nine patients had a negative NIPS, however the fetal sex was discrepant by ultrasound. In 3/9 cases, this lead to a fetal ascertainment of a disorder of sexual development (DSD), which would not have been possible without the NIPS result. Conclusion: Only a third of patients who screen positive for an SCA pursued confirmatory prenatal diagnostic testing. Another third of patients did have postnatal confirmatory testing but a third were lost to follow-up or no testing was completed. In patients where the fetal sex predicted via NIPS is discrepant from the ultrasound predicted sex, a third of our patients had a disorder of sexual development. We propose a standardized protocol for post-test counseling for this patient population.
NoteM.S.
NoteIncludes bibliographical references
Genretheses
Persistent URLhttps://doi.org/doi:10.7282/t3-1b7t-7w69
LanguageEnglish
CollectionSchool of Graduate Studies Electronic Theses and Dissertations
Organization NameRutgers, The State University of New Jersey
RightsThe author owns the copyright to this work.
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