DNA-BASED X-ENRICHED SPERM SEPARATION AS AN ADJUNCT TO PREIMPLANTATION GENETIC TESTING FOR THE PREVENTION OF X-LINKED DISEASE

We report the world's first clinical pregnancy resulting from DNA-base d enrichment for X-bearing human spermatozoa, for prevention of X-link ed hydrocephalus. Sperm separation was followed by embryo biopsy and n ested multiplex polymerase chain reaction (PCR) for gender determinati on. Enriched populations of X-bearing spermatozoa ranging from 80 to 8 9% pure as determined by fluorescence in-situ hybridization (FISH) res ulted in in-vitro fertilization (IVF) rates indistinguishable from nor mal IVF procedures (65%). In two separate biopsy procedures, 7/9 and 1 5/16 of the resulting embryos were determined to be female by multiple x PCR. Embryo transfer resulted in a karyotypically normal female fetu s. This technique should be widely applicable to gender selection for the prevention of genetic disorders.