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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