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-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.
Levinson
G
G
Genetics & IVF Institute, Fairfax, VA 22031, USA.
Keyvanfar
K
K
Wu
J C
JC
Fugger
E F
EF
Fields
R A
RA
Harton
G L
GL
Palmer
F T
FT
Sisson
M E
ME
Starr
K M
KM
Dennison-Lagos
L
L
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*
D004247:DNA