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J. Clin. Med. 2014, 3(3), 795-808;

Limitations of Aneuploidy and Anomaly Detection in the Obese Patient

Department of Obstetrics and Gynecology, University of Rochester, 601 Elmwood Avenue, Box 668, Rochester, NY 14642, USA
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Received: 4 May 2014 / Revised: 17 June 2014 / Accepted: 24 June 2014 / Published: 17 July 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
Full-Text   |   PDF [202 KB, uploaded 17 July 2014]


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. View Full-Text
Keywords: obesity; aneuploidy; ultrasound; anomaly; non-invasive prenatal testing; anatomy obesity; aneuploidy; ultrasound; anomaly; non-invasive prenatal testing; anatomy
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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Zozzaro-Smith, P.; Gray, L.M.; Bacak, S.J.; Thornburg, L.L. Limitations of Aneuploidy and Anomaly Detection in the Obese Patient. J. Clin. Med. 2014, 3, 795-808.

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