[The clinical application of whole chromosome painting probes in preimplantation genetic diagnosis for translocation carriers].
OBJECTIVE
To make preimplantation genetic diagnosis (PGD) for female translocation carriers by analyzing first polar bodies (1PBs) with whole chromosome painting probe (WCP).


METHODS
WCP was used in fluorescence in situ hybridization (FISH) analysis of 1PBs for four female Robertsonian carriers presented for PGD with 45 XX, der(13;14)(q10;q10) karyotype. All the patients underwent ovarian stimulation and during 6 h after oocyte retrieval 1PBs were biopsied and WCP were used in FISH. On day 3 after fertilization embryos diagnosed as normal or balanced were transferred.


RESULTS
A total of 61 oocytes were collected in 4 PGD cycles. Of the 54 matured oocytes, 50 were biopsied and 45 were fixed successfully. Results were obtained in 40 1PBs. Overall, 74.1% (40/54) oocytes were diagnosed. The fertilization rate and good embryo rate were 64.8% (35/54) and 65.7% (23/35) respectively. Two clinical pregnancies were obtained. One patient delivered a normal female baby with karyotype 46, XX in June 2006. For another patient, the fetus spontaneously aborted at 9th week of pregnancy with karyotype of 45, X confirmed by amniotic villus diagnosis.


CONCLUSIONS
WCP can differentiate normal, balanced and unbalanced oocytes accurately and can be used as an efficient PGD method for female carriers of translocation.
Ren
Xiu-lian
XL
Reproductive Medical Center, First Affiliated Hospital, SUN Yat-sen University, Guangzhou, Guangdong, 510080 PR China.
Xu
Yan-wen
YW
Zhuang
Guang-lun
GL
Zhou
Can-quan
CQ
Liu
Ying
Y
Ou
Jian-ping
JP
Li
Sui-ping
SP
D000328:Adult; D020223:Chromosome Painting / Q000379:methods*; D005260:Female; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009865:Oocytes / Q000378:metabolism; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic / Q000235:genetics*