The multi-center study allows for embryo diagnosis with a single-molecule precision and is termed MARSALA (mutated allele revealed by sequencing with aneuploidy and linkage analyses, high-throughput sequencing simultaneous detection mutations, chromosomal abnormalities and linkage analysis) and based on a 2fold sequencing of the genome before prenatal implantation. It was successfully tested with the diagnosis of an autosomal dominant disease, a single base deletion resulting in a frameshift mutation resulted in multiple osteochondroma (offspring 50% boys and girls), and with X-linked recessive genetic disease ectoderm dysplasia (if offspring is a boy, there is 50% chance of illness; if a girl, 50% chance of becoming a carrier of genetic disease)
China Bio news release, December 31, 2015