SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy (pages 643–649)
Carole Samango-Sprouse, Milena Banjevic, Allison Ryan, Styrmir Sigurjonsson, Bernhard Zimmermann, Matthew Hill, Megan P. Hall, Margaret Westemeyer, Jennifer Saucier, Zachary Demko and Matthew Rabinowitz
Article first published online: 20 JUN 2013 | DOI: 10.1002/pd.4159
What's already known about this topic?
- Current routine prenatal screening methods are not designed to detect sex chromosome aneuploidies. Although increased nuchal translucency may indicate Turner syndrome, maternal serum markers are not consistent indicators and are not used to screen for either Turner or the sex chromosome trisomies. Thus, diagnoses are often missed. Current non-invasive prenatal aneuploidy testing methods either do not detect sex chromosome aneuploidy or do not detect them with accuracies comparable with trisomy 21 and 18.
What does this study add?
- We accurately detect 45,X (Turner) with 91.7% sensitivity (CI: 61.5–99.8%) and 100% specificity (CI: 97.9–100%), as well as 47,XXY and 47,XYY, by using a novel non-invasive and informatics-based prenatal method for detecting fetal aneuploidy. The method identified copy number at chromosomes 13, 18, 21, X, and Y with high accuracy across all five chromosomes.