PMID- 23664380
OWN - NLM
STAT- MEDLINE
DCOM- 20140320
LR  - 20130812
IS  - 1872-7654 (Electronic)
IS  - 0301-2115 (Linking)
VI  - 169
IP  - 2
DP  - 2013 Jul
TI  - Birth of a healthy infant after preimplantation genetic diagnosis by sequential 
      blastomere and trophectoderm biopsy for beta-thalassemia and HLA genotyping.
PG  - 261-7
LID - S0301-2115(13)00184-X [pii]
LID - 10.1016/j.ejogrb.2013.04.005 [doi]
AB  - BACKGROUND: Preimplantation genetic diagnosis (PGD) is a widely used technique 
      for couples at genetic risk and involves the diagnosis and transfer of unaffected 
      embryos generated through in vitro fertilization (IVF) techniques. STUDY DESIGN: 
      For those couples who are at risk of transmitting a genetic disease to their 
      offspring, preimplantation embryos can be selected according to their genetic 
      status as well as human leukocyte antigen (HLA) compatibility with the affected 
      child. Stem cells from the resulting baby's umbilical cord blood can be used for 
      transplantation to the affected sibling without graft rejection. RESULTS: Here we 
      report successful hematopoietic stem cell transplantation (HSCT) after the birth 
      of a healthy infant, who was born after successful PGD testing with both cleavage 
      stage and blastocyst stage biopsy for the purpose of diagnosis of beta-thalassemia 
      and HLA compatibility. CONCLUSION: The specific feature of this work is not only 
      to have the first successful HSCT achieved in Bulgaria after using 
      preimplantation HLA typing technique, it also demonstrates how to accomplish this 
      success via cross-border collaboration of different units, which makes the 
      application of these sophisticated methods possible in hospitals not having the 
      necessary equipments and expertise.
CI  - Copyright (c) 2013 Elsevier Ireland Ltd. All rights reserved.
FAU - Milachich, Tanya
AU  - Milachich T
AD  - SAGBAL Dr. Shterev, IVF Unit, Hristo Blagoev 25-31, Sofia, Bulgaria. 
      tanya_ivf@yahoo.com
FAU - Timeva, Tanya
AU  - Timeva T
FAU - Ekmekci, Cumhur
AU  - Ekmekci C
FAU - Beyazyurek, Cagri
AU  - Beyazyurek C
FAU - Tac, Huseyin Avni
AU  - Tac HA
FAU - Shterev, Atanas
AU  - Shterev A
FAU - Kahraman, Semra
AU  - Kahraman S
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20130507
PL  - Ireland
TA  - Eur J Obstet Gynecol Reprod Biol
JT  - European journal of obstetrics, gynecology, and reproductive biology
JID - 0375672
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Biopsy
MH  - Female
MH  - Genotyping Techniques
MH  - HLA Antigens/*genetics
MH  - *Hematopoietic Stem Cell Transplantation
MH  - Humans
MH  - Live Birth
MH  - Male
MH  - Pregnancy
MH  - *Preimplantation Diagnosis
MH  - beta-Thalassemia/diagnosis/immunology/*therapy
OTO - NOTNLM
OT  - Codon 39 (C-->T) (HBB:c.118C>T) mutation
OT  - Hematopoietic stem cell transplantation
OT  - IVS-I-6 (T-->C) (HBB:c.92+6T>C) mutation
OT  - Preimplantation genetic diagnosis
OT  - Preimplantation human leukocyte antigen typing
OT  - beta-Thalassemia
EDAT- 2013/05/15 06:00
MHDA- 2014/03/22 06:00
CRDT- 2013/05/14 06:00
PHST- 2012/08/31 00:00 [received]
PHST- 2013/04/07 00:00 [revised]
PHST- 2013/04/11 00:00 [accepted]
PHST- 2013/05/14 06:00 [entrez]
PHST- 2013/05/15 06:00 [pubmed]
PHST- 2014/03/22 06:00 [medline]
AID - S0301-2115(13)00184-X [pii]
AID - 10.1016/j.ejogrb.2013.04.005 [doi]
PST - ppublish
SO  - Eur J Obstet Gynecol Reprod Biol. 2013 Jul;169(2):261-7. doi: 
      10.1016/j.ejogrb.2013.04.005. Epub 2013 May 7.