A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements
Received 26 April 2007; received in revised form 7 August 2007; accepted 7 August 2007. published online 11 December 2007.
Objective
To report a live birth after successful preimplantation genetic diagnosis (PGD) for carriers of complex chromosomal rearrangements (CCRs) with translocation and deletion.
Design
Fluorescent in situ hybridization (FISH) was applied to PGD for CCR carriers.
Setting
University-based centers for reproductive medicine.
Patient(s)
Three CCR carriers, patient A with 46,XX,t(6;10;8)(q25.1;q21.1;q21.1), patient B with 46,X,del(X)(p22.3),t(2;18)(q14.1;q21)[48]/45,X, t(2;18)(q14.1;q21)[12], and patient C with 46,XY,t(5;13;8)(q21.2;q14.3;q24.3).
Intervention(s)
Balanced or normal embryos were diagnosed by PGD and transferred.
Main Outcome Measure(s)
Diagnosis rate of FISH, pregnancy outcome, and karyotype of amniocentesis.
Result(s)
Blastomeres were biopsied from 56 embryos in four PGD cycles, and 54 embryos (96.4%) were successfully diagnosed by FISH. Among them, four embryos were diagnosed as transferable in two cycles of patient B and one cycle of patient C. After three cycles of embryo transfer, a pregnancy was achieved in the second PGD cycle of patient B, and the karyotype of amniocentesis was 46,XY,t(2;18)(q14.1;q21). A healthy baby was delivered at 40 weeks of gestation by cesarean section.
Conclusion(s)
This is the first report for a live birth after PGD in the CCR carriers associated with translocation and deletion, 46,X,del(X)(p22.3),t(2;18)(q14.1;q21)[48]/45,X,t(2;18)(q14.1;q21)[12]. Preimplantation genetic diagnosis for CCRs needs more consideration and advanced techniques for full karyotyping.
aLaboratory of Reproductive Biology and Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea
bDepartment of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea
cDepartment of Medical Genetics, College of Medicine, Hanyang University, Seoul, Korea
Reprint requests: Jin Hyun Jun, Ph.D., Laboratory of Reproductive Biology and Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, 1-19 Mukjeong-dong, Jung-gu, Seoul, 100-380 Korea (FAX: 82-2-2265-5621).
ABSTRACT