Trends in invasive prenatal diagnostic testing at a single institution. (31st July 2018)

• Record Type: Journal Article
• Authors: Awomolo, Adeola; Palomares, Kristy; Garcia, Guadalupe Herrera; Rosen, Todd; Duzyj, Christina; Ashkinadze, Elena
• Is Part Of: Prenatal diagnosis. Volume 38:Number 10(2018)
• Page Start: 735
• Page End: 739
• Publication Date: 2018-07-31
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5290
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: As diagnostic methodologies evolve, we sought to determine whether invasive testing rates would decline, whether there would be a shift in indications for invasive testing, and whether the diagnostic yield would increase. Methods: We conducted a retrospective, observational study from 2006 through 2015. We quantified the number of invasive procedures per year and examined what percentage of these procedures yielded abnormal results. We also examined the indications for testing and determined the trend of these indications during the study period. Results: The number of amniocenteses showed a steady decline ( P < .05). The number of CVS procedures has increased and was recently equivalent to amniocentesis. The percentage of abnormal results steadily increased from 11.4% to 27.0% ( P < .001). The abnormal aneuploidy screening indication remained constant over time. Advanced maternal age (AMA) as the sole indication substantially declined from 42.3% to 15.52% ( P < .001). Testing for a known single gene disorder steadily increased from 3.0% to 9.20% ( P = .018). Conclusion: Our study showed a significant decline in the number of amniocenteses, a steady increase in the percentage of abnormal results from invasive testing, and a decline in AMA as the sole indication for invasive testing. Abstract : What is already known about this topic? Prenatal diagnosis and testing is an ever‐evolving field. With the improved screening modalities, there is an expected shift in the uptake of invasive testing. For decades, advanced maternal age has been a leading indication of invasive testing. With advancements in expanded carrier screening, there is an expected shift in that trend. With introduction of expanded carrier screening, more single gene disorders can be identified prenatally. This is a novel and growing indication for invasive testing. What does this study add? This study presents a comprehensive review of the trends in invasive testing over a decade at a single institution. It analyzes the indications for testing, diagnostic yield from testing, and how that has evolved over time.