Tags: Laboratory Performance / Laboratory Experience, 2023, United States, CNVs  

• Reviewed 701 high-risk pregnancies with both GW-NIPT and prenatal microarray.
• For aneuploidies, CNVs ≥7Mb, and select microdeletions, sensitivity was 93.8%, specificity was 97.3%, and PPV was 63.8%.
• “Conclusions: While microarray provides the most robust assessment of fetal CNVs, this study suggests that genome wide cfDNA can reliably screen for large CNVs in a high-risk cohort. Informed consent and adequate pretest counseling are essential to ensuring patients understand the benefits and limitations of all prenatal testing and screening options.”

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Tags: Laboratory Performance / Laboratory Experience, 2021, United States, CNVs

• In a cohort of 86,902 Expanded NIPT samples, this publication focuses on the 490 (0.56%) cases that were screen positive for at least 1 subchromosomal partial deletion/duplication. Diagnostic outcomes were available in 50% of these cases, in which the PPV was found to be greater than 70%.

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Tags: Laboratory Performance / Laboratory Experience, Clinical Experience / Clinical Utility, 2021, United States, RAAs, CNVs

• This publication is a retrospective analysis of over 55,000 samples submitted for Expanded NIPT to the laboratory, with diagnostic outcomes available in over 40% of screen positive cases. The publication reports on testing indications, demographics, results, and performance. The authors noted that indications shifted during the 3-year period, with a decrease in referrals for ‘ultrasound findings’ (22.0% to 12.0%) and an increase in referrals of ‘no known high-risk indication’ (3.0% to 16.6%). Of the screen positive results, they reported that 25% would have been missed with NIPT limited to the common aneuploidies. They concluded that, although a broader patient population is using Expanded NIPT, the positivity rates and genome-wide events have remained stable at approximately 5% and 25%, respectively.

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