title: A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements.
abstract: 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.
authors: Laboratory of Reproductive Biology and Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.
authors: Chun Kyu
authors: CK
authors: Lim
authors: Jae Won
authors: JW
authors: Cho
authors: Jin Yeong
authors: JY
authors: Kim
authors: Inn Soo
authors: IS
authors: Kang
authors: Sung Han
authors: SH
authors: Shim
authors: Jin Hyun
authors: JH
authors: Jun
mesh_terms: 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