PMID- 21575938
OWN - NLM
STAT- MEDLINE
DCOM- 20110829
LR  - 20110704
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 96
IP  - 1
DP  - 2011 Jul
TI  - Use of single nucleotide polymorphism microarrays to distinguish between balanced 
      and normal chromosomes in embryos from a translocation carrier.
PG  - e58-65
LID - 10.1016/j.fertnstert.2011.04.038 [doi]
AB  - OBJECTIVE: To prove the ability to distinguish between balanced and normal 
      chromosomes in embryos from a translocation carrier. DESIGN: Case report. 
      SETTING: Academic center for reproductive medicine. PATIENT(S): Woman with a 
      balanced translocation causing Alagille syndrome seeking preimplantation genetic 
      diagnosis (PGD). INTERVENTION(S): Blastocyst biopsy for PGD. MAIN OUTCOME 
      MEASURE(S): Consistency of 3 methods of embryo genetic analysis (real-time 
      polymerase chain reaction, single nucleotide polymorphism [SNP] microarray, and 
      fluorescence in situ hybridization [FISH]) and normalcy in the newborn derived 
      from PGD. RESULT(S): PGD was applied to 48 embryos. Real-time polymerase chain 
      reaction, SNP microarray, and FISH demonstrated 100% consistency, although FISH 
      failed to detect aneuploidies observed by comprehensive SNP microarray-based 
      analyses. Two blastocysts were identified to be normal for all 3 factors using 
      SNP microarray technology alone. The 2 normal embryos were transferred back to 
      the patient, resulting in the delivery of a healthy boy with a normal karyotype. 
      CONCLUSION(S): This is the first report of validation and successful clinical 
      application of microarray-based PGD to distinguish between balanced and normal 
      chromosomes in embryos from a translocation carrier.
CI  - Copyright (c) 2011 American Society for Reproductive Medicine. Published by 
      Elsevier Inc. All rights reserved.
FAU - Treff, Nathan R
AU  - Treff NR
AD  - Reproductive Medicine Associates of New Jersey Research, 111 Madison Avenue, 
      Suite 100, Morristown, NJ 07960, USA. ntreff@rmanj.com
FAU - Tao, Xin
AU  - Tao X
FAU - Schillings, Wendy J
AU  - Schillings WJ
FAU - Bergh, Paul A
AU  - Bergh PA
FAU - Scott, Richard T Jr
AU  - Scott RT Jr
FAU - Levy, Brynn
AU  - Levy B
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110514
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Adult
MH  - Alagille Syndrome/diagnosis/*genetics
MH  - Female
MH  - *Heterozygote
MH  - Humans
MH  - Infant, Newborn
MH  - Oligonucleotide Array Sequence Analysis/*methods
MH  - Polymorphism, Single Nucleotide/*genetics
MH  - Preimplantation Diagnosis/*methods
MH  - Translocation, Genetic/*genetics
EDAT- 2011/05/18 06:00
MHDA- 2011/08/30 06:00
CRDT- 2011/05/18 06:00
PHST- 2011/02/23 00:00 [received]
PHST- 2011/04/12 00:00 [revised]
PHST- 2011/04/13 00:00 [accepted]
PHST- 2011/05/18 06:00 [entrez]
PHST- 2011/05/18 06:00 [pubmed]
PHST- 2011/08/30 06:00 [medline]
AID - S0015-0282(11)00651-0 [pii]
AID - 10.1016/j.fertnstert.2011.04.038 [doi]
PST - ppublish
SO  - Fertil Steril. 2011 Jul;96(1):e58-65. doi: 10.1016/j.fertnstert.2011.04.038. Epub 
      2011 May 14.