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Life sciences/Genetics/Human genetics/Medical genetics/Genetic disorders/Cystic fibrosis

Researchers have reconstructed the whole genome sequence of a human fetus, using DNA samples obtained from a pregnant woman and the father-to-be. The findings, reported in the 6 June issue of Science Translational Medicine, open up the possibility of evaluating a fetus noninvasively for all single-gene disorders.

Huntington’s disease, cystic fibrosis, and Tay-Sachs disease are among the “Mendelian” disorders that are caused by a defect in a single gene, which collectively affect about 1% of new births.