Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience.
OBJECTIVE
To evaluate the efficacy and clinical outcome of preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridization (FISH) for couples with chromosomal translocations.


METHODS
PGD using FISH was performed in 59 cycles of 43 couples with reciprocal translocations, and 11 cycles of 6 couples with Robertsonian translocations. The diagnostic and clinical data were reviewed in a series of 70 treatment cycles of 49 couples from January 2001 to June 2002 at Samsung Cheil Hospital, Korea.


RESULTS
A total of 1408 oocytes were retrieved, and 938 (81.7%) out of 1148 matured oocytes were fertilized by intracytoplasmic sperm injection (ICSI). Single blastomere biopsy and FISH analysis were successfully carried out in 99.3% (890/896) and 94.4% (840/890), respectively. Among 193 normal or balanced embryos, 169 embryos were transferred in 64 cycles (91.4% per started cycle). Twenty clinical pregnancies including two ectopic pregnancies and three spontaneous miscarriages (28.6% per started cycle, 31.3% per transfer cycle, 40.8% per couple) were established. Of the three spontaneous miscarriages, one was karyotyped as normal, one had an unbalanced arrangement and one was tetraploid. One case of preterm twin delivery occurred and 16 healthy babies were delivered in 12 single and 2 twin pregnancies.


CONCLUSIONS
The clinical outcome was successful in 28.6% (14/49) of the treated couples with translocations after PGD. The spontaneous abortion rate was significantly reduced from 95.8% (69/72) to 16.7% (3/18) in these couples.
Laboratory of Reproductive Biology and Infertility, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Chun
C
Kyu Lim
Jin
J
Hyun Jun
Dong
D
Mi Min
Hyoung-Song
HS
Lee
Jin
J
Young Kim
Mi Kyoung
MK
Koong
Inn Soo
IS
Kang
D000022:Abortion, Spontaneous / Q000517:prevention & control*; D001706:Biopsy; D001757:Blastomeres; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000196:embryology; D046149:Embryo Culture Techniques; D005069:Evaluation Studies as Topic; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007723:Korea; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D010062:Ovulation Induction; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods; D014178:Translocation, Genetic / Q000235:genetics*