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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Limitations of Aneuploidy and Anomaly Detection in the Obese Patient
Paula Zozzaro-Smith1, Lisa M Gray2, Stephen J Bacak3
1Department of Obstetrics and Gynecology, University of Rochester, 601 Elmwood Avenue, Box 668, Rochester, NY 14642, USA. paula_zozzaro-smith@urmc.rochester.edu.
Abstract:
Obesity is a worldwide epidemic and can have a profound effect on pregnancy risks. Obese patients tend to be older and are at increased risk for structural fetal anomalies and aneuploidy, making screening options critically important for these women. Failure rates for first-trimester nuchal translucency (NT) screening increase with obesity, while the ability to detect soft-markers declines, limiting ultrasound-based screening options. Obesity also decreases the chances of completing the anatomy survey and increases the residual risk of undetected anomalies. Additionally, non-invasive prenatal testing (NIPT) is less likely to provide an informative result in obese patients. Understanding the limitations and diagnostic accuracy of aneuploidy and anomaly screening in obese patients can help guide clinicians in counseling patients on the screening options.
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