Research ArticlePregnancy

Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease

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Science Translational Medicine  30 Aug 2017:
Vol. 9, Issue 405, eaan1240
DOI: 10.1126/scitranslmed.aan1240

A complete look at fetal chromosomes

Genetic analysis of fetal DNA in maternal blood is becoming increasingly common, but the standard clinical tests typically consider only the chromosomes that are most frequently found to be aneuploid: 13, 18, 21, X, and Y. Pertile et al. analyzed patient data from two clinical laboratories and discovered that this approach may be ignoring valuable information. In both cohorts, the authors found a number of rare autosomal trisomies that are not reported on routine testing and showed that these are associated with an increased risk of pregnancy complications, indicating their potential relevance for clinical care.

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