This Month in The Journal

In screening pregnancies for genetic conditions, non-invasive prenatal testing is becoming an attractive option. It uses easily obtainable maternal blood, which contains small amounts of circulating cell-free fetal DNA, and it is less invasive than procedures such as amniocentesis. However, distinguishing between the fetal and maternal alleles is difficult and can be especially complicated when the mother is a carrier for the mutation of interest and when only a low fetal fraction of DNA within the total cell-free DNA is obtained.

Source: The American Journal of Human Genetics - September 7, 2017 Category: Genetics & Stem Cells Authors: Sarah Ratzel, Sara B. Cullinan Tags: Editors' Corner Source Type: research