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 po...

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Bibliographic Details
Published inHuman reproduction (Oxford) Vol. 10; no. 4; p. 979
Main Authors Levinson, G, Keyvanfar, K, Wu, J C, Fugger, E F, Fields, R A, Harton, G L, Palmer, F T, Sisson, M E, Starr, K M, Dennison-Lagos, L
Format Journal Article
LanguageEnglish
Published England 01.04.1995
Subjects
Adult
Cell Separation
DNA - analysis
Embryo Transfer
Female
Fertilization in Vitro
Humans
Hydrocephalus - genetics
Hydrocephalus - prevention & control
Male
Polymerase Chain Reaction
Pregnancy
Prenatal Diagnosis
Sex Preselection
Spermatozoa - pathology
Spermatozoa - ultrastructure
X Chromosome - genetics
X Chromosome - pathology
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Summary: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.
ISSN:0268-1161
DOI:10.1093/oxfordjournals.humrep.a136081