PMID- 25516085
OWN - NLM
STAT- MEDLINE
DCOM- 20150423
LR  - 20150202
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 103
IP  - 2
DP  - 2015 Feb
TI  - First systematic experience of preimplantation genetic diagnosis for single-gene 
      disorders, and/or preimplantation human leukocyte antigen typing, combined with 
      24-chromosome aneuploidy testing.
PG  - 503-12
LID - S0015-0282(14)02353-X [pii]
LID - 10.1016/j.fertnstert.2014.11.007 [doi]
AB  - OBJECTIVE: To study the feasibility, accuracy, and reproductive outcome of 
      24-chromosome aneuploidy testing (24-AT), combined with preimplantation genetic 
      diagnosis (PGD) for single-gene disorders (SGDs) or human leukocyte antigen (HLA) 
      typing in the same biopsy sample. DESIGN: Retrospective study. SETTING: 
      Preimplantation genetic diagnosis center. PATIENT(S): A total of 238 PGD 
      patients, average age 36.8 years, for whom 317 combined PGD cycles were 
      performed, involving 105 different conditions, with or without HLA typing. 
      INTERVENTION(S): Whole-genome amplification product, obtained in 24-AT, was used 
      for PGD and/or HLA typing in the same blastomere or blastocyst biopsy samples. 
      MAIN OUTCOME MEASURE(S): Proportion of the embryos suitable for transfer detected 
      in these blastomere or blastocyst samples, and the resulting pregnancy and 
      spontaneous abortion rates. RESULT(S): Embryos suitable for transfer were 
      detected in 42% blastocyst and 25.1% blastomere samples, with a total of 280 
      unaffected, HLA-matched euploid embryos detected for transfer in 212 cycles (1.3 
      embryos per transfer), resulting in 145 (68.4%) unaffected pregnancies and birth 
      of 149 healthy, HLA-matched children. This outcome is significantly different 
      from that of our 2,064 PGD cycle series without concomitant 24-AT, including 
      improved pregnancy (68.4% vs. 45.4%) and 3-fold spontaneous abortion reduction 
      (5.5% vs. 15%) rates. CONCLUSION(S): The introduced combined approach is a 
      potential universal PGD test, which in addition to achieving extremely high 
      diagnostic accuracy, significantly improves reproductive outcomes of PGD for SGDs 
      and HLA typing in patients of advanced reproductive age.
CI  - Copyright (c) 2015 American Society for Reproductive Medicine. Published by 
      Elsevier Inc. All rights reserved.
FAU - Rechitsky, Svetlana
AU  - Rechitsky S
AD  - Reproductive Genetics Institute, Northbrook, Illinois.
FAU - Pakhalchuk, Tatiana
AU  - Pakhalchuk T
AD  - Reproductive Genetics Institute, Northbrook, Illinois.
FAU - San Ramos, Geraldine
AU  - San Ramos G
AD  - Reproductive Genetics Institute, Northbrook, Illinois.
FAU - Goodman, Adam
AU  - Goodman A
AD  - Reproductive Genetics Institute, Northbrook, Illinois.
FAU - Zlatopolsky, Zev
AU  - Zlatopolsky Z
AD  - Reproductive Genetics Institute, Northbrook, Illinois.
FAU - Kuliev, Anver
AU  - Kuliev A
AD  - Reproductive Genetics Institute, Northbrook, Illinois. Electronic address: 
      anverkuliev@hotmail.com.
LA  - eng
PT  - Journal Article
DEP - 20141213
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Adult
MH  - *Aneuploidy
MH  - Female
MH  - Genetic Testing/*methods
MH  - HLA Antigens/*genetics
MH  - Humans
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
MH  - Retrospective Studies
OTO - NOTNLM
OT  - Microarray-based 24-chromosome aneuploidy testing
OT  - PGD for single gene disorders
OT  - allele drop out (ADO) in whole genome amplification
OT  - blastocyst biopsy
OT  - preimplantation HLA typing
OT  - reproductive outcome
EDAT- 2014/12/18 06:00
MHDA- 2015/04/24 06:00
CRDT- 2014/12/18 06:00
PHST- 2014/08/21 00:00 [received]
PHST- 2014/11/07 00:00 [revised]
PHST- 2014/11/07 00:00 [accepted]
PHST- 2014/12/18 06:00 [entrez]
PHST- 2014/12/18 06:00 [pubmed]
PHST- 2015/04/24 06:00 [medline]
AID - S0015-0282(14)02353-X [pii]
AID - 10.1016/j.fertnstert.2014.11.007 [doi]
PST - ppublish
SO  - Fertil Steril. 2015 Feb;103(2):503-12. doi: 10.1016/j.fertnstert.2014.11.007. 
      Epub 2014 Dec 13.