Complexity of noninvasive prenatal screening and diagnostic testing for an unbalanced translocation involving chromosomes 5 and 18. (28th November 2013) - Feenstra, H.
Abstract What's already known about this topic? 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). 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. What does this study add? 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. Natural history information of a child born with Cri‐du‐Chat syndrome and partial Trisomy 18 concurrently. © 2013 John Wiley & Sons, Ltd.