Researchers successfully diagnose Stargardt’s disease in embryo screening

This case report describes a male with Stargardt's disease and his carrier wife who elected to undergo preimplantation genetic diagnosis before in vitro fertilization to achieve an unaffected pregnancy.  Researchers used single-cell DNA testing to detect the presence of ACBA4 mutant alleles. A single carrier embryo was implanted. Chorionic villus sampling performed during the first trimester verified that the fetus was an unaffected carrier of the disease. A healthy child was delivered.