A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements.
OBJECTIVE
To report a live birth after successful preimplantation genetic diagnosis (PGD) for carriers of complex chromosomal rearrangements (CCRs) with translocation and deletion.


METHODS
Fluorescent in situ hybridization (FISH) was applied to PGD for CCR carriers.


METHODS
University-based centers for reproductive medicine.


METHODS
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).


METHODS
Balanced or normal embryos were diagnosed by PGD and transferred.


METHODS
Diagnosis rate of FISH, pregnancy outcome, and karyotype of amniocentesis.


RESULTS
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.


CONCLUSIONS
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.
Lim
Chun Kyu
CK
Laboratory of Reproductive Biology and Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.
Cho
Jae Won
JW
Kim
Jin Yeong
JY
Kang
Inn Soo
IS
Shim
Sung Han
SH
Jun
Jin Hyun
JH
D000328:Adult; D002585:Cesarean Section; D002872:Chromosome Deletion; D002877:Chromosomes, Human; D005260:Female; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D050498:Live Birth; D008297:Male; D011237:Predictive Value of Tests; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D027724:Reproductive Techniques, Assisted; D014178:Translocation, Genetic