[Preimplantation genetic diagnosis for a patient with Robertsonian translocation].
OBJECTIVE
To investigate the feasibility and risk of preimplantation genetic diagnosis (PGD) for screening normal offspring of Robertsonian translocation carriers.


METHODS
This case was clinically diagnosed as primary infertility for 6 years; the husband was found to have chromosome der (13;14) (q10;q10) and oligozoospermia. For the solution of the couple's problem, controlled ovarian hyperstimulation (COH) and intracytoplasmic sperm injection (ICSI) were performed to obtain embryos. The embryos were drilled in zona by acidified Tyrode's solution at 6-8 cell stage (day 3 post-fertilization) and a single blastomere was removed from each embryo. All blastomeres were analyzed by fluorescence in situ hybridization (FISH) using the double color probes LSI 13q labeled by SpectrumOrange and Tel 14q labeled by SpectrumGreen. The embryos biopsied were cultured at once and the normal ones selected were transferred the next day. Prenatal diagnostic techniques were used to detect the karyotype of fetus at 18 weeks of gestation.


RESULTS
Unbalanced, normal or balanced, and unclear embryos were separated. The couple obtained 50a (4/8)normal or balanced,and 37.5a (3/8)unbalanced, and 12.5a (1/8) unclear embryos. A singleton pregnancy followed, and the karyotype of the fetus (46,XY) was detected by prenatal diagnostic techniques.


CONCLUSIONS
PGD is useful for screening out unbalanced embryos and is very valuable for solving the reproductive problem of Robertsonian translocation carriers and for avoiding fetal beings with severe disorders.
Li
Chun-hua
CH
Department of Reproductive and Genetics, the First People's Hospital of Yunnan Province, Kunming, Yunnan, 650032 P. R. China.
Zhang
Xiao-mei
XM
Li
Yong-gang
YG
Zhu
Bao-sheng
BS
Meng
Yi-shi
YS
Feng
Huai-ying
HY
Wu
Ze
Z
Gao
Meng-ying
MY
Tang
Xin-hua
XH
Wu
Jian-yun
JY
D000328:Adult; D001755:Blastocyst / Q000166:cytology / Q000378:metabolism; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D010064:Embryo Implantation / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D020554:Sperm Injections, Intracytoplasmic; D014178:Translocation, Genetic / Q000235:genetics*