PMID- 31758512
OWN - NLM
STAT- MEDLINE
DCOM- 20200430
LR  - 20201201
IS  - 1573-7330 (Electronic)
IS  - 1058-0468 (Print)
IS  - 1058-0468 (Linking)
VI  - 36
IP  - 12
DP  - 2019 Dec
TI  - Karyomapping in preimplantation genetic testing for beta-thalassemia combined with 
      HLA matching: a systematic summary.
PG  - 2515-2523
LID - 10.1007/s10815-019-01595-7 [doi]
AB  - PURPOSE: To investigate the validity, accuracy, and clinical outcomes of 
      Karyomapping in preimplantation genetic testing (PGT) for beta-thalassemia combined 
      with human leukocyte antigen (HLA) matching. METHODS: A total of 128 cycles from 
      January 2014 to December 2017 were identified, and 1205 embryos were biopsied. 
      The case group included 88 cycles using Karyomapping for PGT-HLA, compared with 
      40 cycles using polymerase chain reaction-short tandem repeat (PCR-STR) as the 
      control group. RESULTS: There were significant differences in the HLA matching 
      rate (21.34 vs. 14.37%), the matched transferable embryo rate (9.79 vs. 14.07%), 
      the clinical pregnancy rate (65.08 vs. 41.86%), and the spontaneous miscarriage 
      rate (2.44 vs. 22.22%) between the case and control groups. In the case group, 
      nearly 1/3 (33.37%) of the embryos showed aneuploidy. According to the results of 
      single nucleotide polymorphism (SNP) haplotype analysis, the recombination rates 
      of HBB (hemoglobin subunit beta) and HLA were 11.46% and 5.61% respectively. HLA 
      gene recombination was mostly distributed between HLA-A and HLA-B and the 
      downstream region of HLA-DQB1. In addition, STR analysis could be considered in 
      the case of copy-neutral loss of heterozygosity (LOH) in the region where the HLA 
      gene is located. CONCLUSION: Karyomapping contributes to accurate selection of 
      matched embryos, along with aneuploidy screening. However, STRs assist 
      identification in cases of LOH in the target region.
FAU - Wang, Jing
AU  - Wang J
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangdong, China.
FAU - Lu, Bao-Min
AU  - Lu BM
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangdong, China.
FAU - Li, Rong
AU  - Li R
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangdong, China.
FAU - Guo, Jing
AU  - Guo J
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangdong, China.
FAU - Xu, Yan
AU  - Xu Y
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangdong, China.
FAU - Pan, Jia-Fu
AU  - Pan JF
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangdong, China.
FAU - Zeng, Yan-Hong
AU  - Zeng YH
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangdong, China.
FAU - Zhou, Can-Quan
AU  - Zhou CQ
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangdong, China.
FAU - Xu, Yan-Wen
AU  - Xu YW
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangdong, China. xuyanwen@live.cn.
AD  - Guangdong Provincial Key Laboratory of Reproductive Medicine, No.58, Zhongshan II 
      Road, Guangzhou, 510080, China. xuyanwen@live.cn.
LA  - eng
GR  - 2018YFC1003102/National Key Research and Development Program/
GR  - 81771588/National Natural Science Foundation of China/
GR  - 201804020087/Guangzhou Science and Technology Project/
GR  - 2016A020218008/Guangdong Province Science and Technology Project/
PT  - Journal Article
DEP - 20191122
PL  - Netherlands
TA  - J Assist Reprod Genet
JT  - Journal of assisted reproduction and genetics
JID - 9206495
RN  - 0 (HLA-A Antigens)
RN  - 0 (HLA-B Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (Hemoglobin Subunits)
SB  - IM
MH  - Adult
MH  - Biopsy
MH  - Embryo Transfer
MH  - Female
MH  - HLA-A Antigens/*genetics
MH  - HLA-B Antigens/*genetics
MH  - HLA-DQ beta-Chains/genetics
MH  - Hemoglobin Subunits/genetics
MH  - Humans
MH  - Karyotyping/*methods
MH  - Loss of Heterozygosity/genetics
MH  - Pregnancy
MH  - Pregnancy Rate
MH  - *Preimplantation Diagnosis
MH  - beta-Thalassemia/*diagnosis/genetics/pathology
PMC - PMC6911139
OTO - NOTNLM
OT  - Genetic testing
OT  - HLA matching
OT  - Karyomapping
OT  - Preimplantation
OT  - beta-Thalassemia
EDAT- 2019/11/24 06:00
MHDA- 2020/05/01 06:00
PMCR- 2020/12/01
CRDT- 2019/11/24 06:00
PHST- 2019/07/03 00:00 [received]
PHST- 2019/09/24 00:00 [accepted]
PHST- 2019/11/24 06:00 [pubmed]
PHST- 2020/05/01 06:00 [medline]
PHST- 2019/11/24 06:00 [entrez]
PHST- 2020/12/01 00:00 [pmc-release]
AID - 10.1007/s10815-019-01595-7 [pii]
AID - 1595 [pii]
AID - 10.1007/s10815-019-01595-7 [doi]
PST - ppublish
SO  - J Assist Reprod Genet. 2019 Dec;36(12):2515-2523. doi: 
      10.1007/s10815-019-01595-7. Epub 2019 Nov 22.