title: DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention of X-linked disease.
abstract: We report the world's first clinical pregnancy resulting from DNA-based enrichment for X-bearing human spermatozoa, for prevention of X-linked hydrocephalus. Sperm separation was followed by embryo biopsy and nested multiplex polymerase chain reaction (PCR) for gender determination. Enriched populations of X-bearing spermatozoa ranging from 80 to 89% pure as determined by fluorescence in-situ hybridization (FISH) resulted in in-vitro fertilization (IVF) rates indistinguishable from normal IVF procedures (65%). In two separate biopsy procedures, 7/9 and 15/16 of the resulting embryos were determined to be female by multiplex PCR. Embryo transfer resulted in a karyotypically normal female fetus. This technique should be widely applicable to gender selection for the prevention of genetic disorders.
authors.affiliation: Genetics & IVF Institute, Fairfax, VA 22031, USA.
authors.forename: G
authors.initials: G
authors.lastname: Levinson
authors.forename: K
authors.initials: K
authors.lastname: Keyvanfar
authors.forename: J C
authors.initials: JC
authors.lastname: Wu
authors.forename: E F
authors.initials: EF
authors.lastname: Fugger
authors.forename: R A
authors.initials: RA
authors.lastname: Fields
authors.forename: G L
authors.initials: GL
authors.lastname: Harton
authors.forename: F T
authors.initials: FT
authors.lastname: Palmer
authors.forename: M E
authors.initials: ME
authors.lastname: Sisson
authors.forename: K M
authors.initials: KM
authors.lastname: Starr
authors.forename: L
authors.initials: L
authors.lastname: Dennison-Lagos
mesh_terms: D000328:Adult; D002469:Cell Separation; D004247:DNA / Q000032:analysis; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics / Q000517:prevention & control*; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012743:Sex Preselection; D013094:Spermatozoa / Q000473:pathology* / Q000648:ultrastructure; D014960:X Chromosome / Q000235:genetics / Q000473:pathology*
chemical_list: D004247:DNA