Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies
Top Cited Papers
Open Access
- 14 July 2015
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA
- Vol. 314 (2) , 162-169
- https://doi.org/10.1001/jama.2015.7120
Abstract
Noninvasive prenatal testing (NIPT) using massively parallel sequencing of cell-free DNA (cfDNA) in maternal plasma has recently changed the clinical paradigm of prenatal screening for the common fetal autosomal aneuploidies (abnormal numbers of whole chromosomes).1,2 Using this technology, the sensitivities for the detection of fetal trisomies 21 and 18 are, on average, 99% and 96%, respectively, with specificities of 99% to 100%.3 Many professional societies have recommended that NIPT can be offered to pregnant women at high risk for having a fetus with autosomal aneuploidy, with follow-up diagnostic testing recommended to confirm a positive test result.1,4-6Keywords
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