PMID- 15588472 OWN - NLM STAT- MEDLINE DCOM- 20050314 LR - 20190917 IS - 1472-6483 (Print) IS - 1472-6483 (Linking) VI - 9 IP - 5 DP - 2004 Nov TI - Clinical aspects of preimplantation genetic diagnosis for single gene disorders combined with HLA typing. PG - 529-32 AB - Preimplantation genetic diagnosis (PGD) for single gene disorders combined with human leukocyte antigen (HLA) matching has recently emerged as a therapeutic tool for stem cell transplantation in couples bearing an affected offspring. There may exist, however, several patient- or cycle-specific limitations for certain couples. This article documents data regarding experience of single gene disorders combined with HLA matching obtained at Istanbul Memorial Hospital, Turkey. The data were obtained from 20 couples undergoing 26 PGD-HLA cycles for thalassaemia (n = 23), Wiscott-Aldrich syndrome (n = 1) and acute lymphoblastic leukaemia (n = 2). A total of 206 embryos was biopsied on day 3 of embryo development and subsequently analysed. After the analysis, 26 (12.6%) of them were found to be both healthy and HLA compatible. In 16 embryo transfers performed, seven (43.7%) clinical pregnancies were obtained, one of which resulted in miscarriage. Ten of the 26 cycles started (38.4%) were cancelled due to a lack of suitable (mutation-free and/or HLA-compatible) embryos. The data suggest that application of PGD in combination with HLA typing is a promising therapeutic tool for an affected sibling. FAU - Kahraman, S AU - Kahraman S AD - Istanbul Memorial Hospital, ART, Reproductive Endocrinology and Genetics Unit, Piyalepasa Bulvari, 80270 Okmeydani, Istanbul, Turkey. skahraman@superonline.com FAU - Karlikaya, G AU - Karlikaya G FAU - Sertyel, S AU - Sertyel S FAU - Karadayi, H AU - Karadayi H FAU - Findikli, N AU - Findikli N LA - eng PT - Journal Article PL - Netherlands TA - Reprod Biomed Online JT - Reproductive biomedicine online JID - 101122473 SB - IM MH - Adult MH - Female MH - Genetic Diseases, Inborn/*diagnosis/genetics MH - *Histocompatibility Testing MH - Humans MH - Infertility/*diagnosis/genetics MH - Pregnancy MH - Pregnancy Outcome MH - *Preimplantation Diagnosis EDAT- 2004/12/14 09:00 MHDA- 2005/03/15 09:00 CRDT- 2004/12/14 09:00 PHST- 2004/12/14 09:00 [pubmed] PHST- 2005/03/15 09:00 [medline] PHST- 2004/12/14 09:00 [entrez] AID - S1472-6483(10)61637-9 [pii] AID - 10.1016/s1472-6483(10)61637-9 [doi] PST - ppublish SO - Reprod Biomed Online. 2004 Nov;9(5):529-32. doi: 10.1016/s1472-6483(10)61637-9.