Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses

One missing or wrong nucleotide out of six billion in a human genome can cause a genetic disease. Detecting such a point mutation in a single human germ cell has been a daunting challenge in in vitro fertilization, yet one cannot afford to make any mistakes in selecting a viable embryo for transfer. Mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) combines next-generation sequencing and single-cell whole-genome amplification methodologies, allowing embryo diagnosis with a single-molecule precision, significantly reducing false-positive or false-negative errors. MARSALA can benefit couples who desire to avoid transmitting their genetic diseases to their offspring.