A Meta-narrative Review: Efficacy of Non-Invasive Prenatal Testing (NIPT) in the Detection of Sex Chromosomal Aneuploidy in Singleton Pregnancy
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Objective: To assess the efficacy of Noninvasive Prenatal Testing (NIPT) as a screening method for Sex Chromosomal Aneuploidy (SCA) and its application in clinical practice.
Methods: Searches on Pubmed and M.D. Anderson Cancer Center Research Medical Library was performed to identify primary research articles published between January 2018 to April 2023.
Results: The average combined SCA's PPV was 46.08%. The average PPV for 45, X, 47, XXX, 47, XXY, and 47, XYY was 26.05%, 44.82%, 50.21%, and 62.99%, respectively. The average PPV for 46, XY was 1.18%; however, there is a lack of statistical data for 46, XY. NIPT is least accurate in detecting 45, X (Turner Syndrome) and most accurate in detecting 47, XYY (Jacobs Syndrome). There is inconsistency in the interpretation of PPV values and, thus use of NIPT for SCA in clinical practice between the selected studies.
Conclusion: Despite its high specificity and sensitivity, NIPT for SCAs have inconsistent but low PPVs. NIPT showed a significantly lower accuracy for predicting monosomy X than sex chromosome trisomies. The studies examined seemed to hold different minimum criteria to designate the effectiveness of NIPT for SCA, and thus their recommendation to whether its use in clinical practice is recommended differed. Although NIPT for SCAs has positive implications in clinical practice, more methodological improvement is needed. Genetic counseling is necessary following a positive NIPT to ensure subsequent confirmatory tests and that prospective parents fully understand the diagnosis and make an informed decision.
Molecular Genetic Technology
The University of Texas MD Anderson Cancer Center
Noninvasive prenatal testing, Cell Free DNA testing, NIPT, cfDNA, prenatal screening test, sex chromosome aneuploidies, SCA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Genetics | Molecular Genetics
Dao, Tien T.; Fields, Arianna; Huynh, Annie; McGhee, Nikkita; and Pellegrini, Christian, "A Meta-narrative Review: Efficacy of Non-Invasive Prenatal Testing (NIPT) in the Detection of Sex Chromosomal Aneuploidy in Singleton Pregnancy" (2023). Research Methods Poster Session 2023. 1.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Genetics Commons, Molecular Genetics Commons