Complexity of noninvasive prenatal screening and diagnostic testing for an unbalanced translocation involving chromosomes 5 and 18. (28th November 2013)

• Record Type: Journal Article
• Authors: Feenstra, H.; Dunn, T.; Lewis, D.; Herrera, K.; Foroutan, J.; Calabio, R.; Batey, A.; Wang, E.; Gebbia, J. A.
• Is Part Of: Prenatal diagnosis. Volume 34:Number 2(2014:Feb.)
• Page Start: 195
• Page End: 198
• Publication Date: 2013-11-28
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4270
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="short"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list id="pd4270-list-0001" list-type="bullet"> <list-item id="pd4270-li-0001"> <p>Noninvasive prenatal screening (NIPS) via cell‐free DNA analysis of maternal blood has been validated for detection of Trisomy 18 with a sensitivity of 97.4% (95% CI: 93–100%) and false positive rate of 0.07% (95% CI: 0.0–0.3%). (Confidence intervals provided are for Ariosa Diagnostics as this lab was involved with our case; however, the sensitively and specificity of NIPS vary slightly depending on the company performing the testing).</p> </list-item> <list-item id="pd4270-li-0002"> <p>Parental balanced reciprocal translocations are known to result in the potential for offspring with unbalanced chromosome material and significant effects on physical and intellectual development, as well as lifespan.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list id="pd4270-list-0002" list-type="bullet"> <list-item id="pd4270-li-0003"> <p>A case report of NIPS results when a fetus has an unbalanced translocation involving one of the chromosomes that is being tested via cell‐free DNA.</p> </list-item> <list-item id="pd4270-li-0004"> <p>Natural history information of a child born with Cri‐du‐Chat syndrome and partial Trisomy 18 concurrently.</p> </list-item> </list> © 2013 John Wiley &amp; Sons, Ltd.</p> </abstract>