Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization

In in vitro fertilization (IVF), current methods of diagnosing chromosome abnormality and screening for viability of transfer require biopsy of embryos, which affects embryo quality, awaits long-term biosafety test, and requires specialized skills. We demonstrate the principle of noninvasive chromosome screening (NICS), which is based on sequencing the genomic DNA secreted into the culture medium from the embryo, avoiding the need for embryo biopsy and substantially increasing the safety. By characterizing its precision and demonstrating successful live births, we validate that NICS offers the potential of significantly improving the clinical outcome of IVF.