Document Detail


Preimplantation genetic diagnosis for HLA typing in a case of X- linked chronic granulomatous disease.
MedLine Citation:
PMID:  22404048     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Bone marrow transplantation may be life-saving in case of hematopoietic disease, severe congenital immunodeficiency or malignancy. A HLA-matching sibling often gives the best success, but this may not be an option, nor may a HLA-matching unrelated donor be found. Preimplantation genetic diagnosis with HLA-matching embryos may then be a solution. We report the first Danish child born after such diagnosis with identification of healthy embryos and HLA-matching for a sibling with chronic granulomatous disease. Our patient had 13 IVF cycles, 286 oocytes were collected, analyzing 74 embryos. Sixteen of these (22%) were either healthy or carriers. Five embryos were transferred in four stimulated fresh IVF cycles. Four embryos were frozen, and two transferred at blastocyst stage. Two successive clinical pregnancies ensued. In the first, prenatal diagnosis revealed trisomy 21, and the fetus was aborted. In the second pregnancy CVS revealed a normal karyotype, the diagnosis was confirmed, and the pregnancy was normal. At delivery 82 ml of cord blood was collected for later transplantation to the diseased sibling.
Authors:
Birte Degn; Johnny Hindkjaer; Mette Wulff Christensen; Tanja Østerlund Mortensen; Hans Jakob Ingerslev
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-9
Journal Detail:
Title:  Acta obstetricia et gynecologica Scandinavica     Volume:  -     ISSN:  1600-0412     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-3-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370343     Medline TA:  Acta Obstet Gynecol Scand     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 The Authors Acta Obstetricia et Gynecologica Scandinavica© 2012 Nordic Federation of Societies of Obstetrics and Gynecology.
Affiliation:
Centre for Preimplantation Genetic Diagnosis, The Fertility Clinic, Aarhus University Hospital, Skejby, Aarhus, Denmark.
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