PMID- 33494632
OWN - NLM
STAT- MEDLINE
DCOM- 20211206
LR  - 20211214
IS  - 1939-6376 (Electronic)
IS  - 1939-6368 (Linking)
VI  - 67
IP  - 2
DP  - 2021 Apr
TI  - Successful four-factor preimplantation genetic testing: alpha- and beta-thalassemia, 
      human leukocyte antigen typing, and aneuploidy screening.
PG  - 151-159
LID - 10.1080/19396368.2020.1832158 [doi]
AB  - Our study established an effective next-generation sequencing (NGS) protocol for 
      four-factor preimplantation genetic testing (PGT) using  alpha- and beta-thalassemia, 
      human leukocyte antigen (HLA) typing, and aneuploidy screening. Three couples, in 
      whom both partners were alpha- and beta-double thalassemia carriers, underwent PGT 
      between 2016 and 2018. These individuals sought an opportunity for hematopoietic 
      stem cell transplantation to save their children from beta-thalassemia major. A 
      total of 35 biopsied trophectoderm samples underwent multiple displacement 
      amplification (MDA). PGT for alpha- and beta-thalassemia and HLA typing were performed 
      on MDA products using NGS-based single-nucleotide polymorphism (SNP) haplotyping. 
      Although two samples failed MDA, 94.3% (33/35) of samples were successfully 
      amplified, achieving conclusive PGT results. Furthermore, 51.5% (17/33) of the 
      embryos were diagnosed as unaffected non-carriers or carriers. Of the 17 
      unaffected embryos, nine (52.9%) were tested further  and identified as euploid 
      via NGS-based aneuploid screening, in which five had HLA types matching affected 
      children. One family did not achieve any unaffected euploid embryos. The two 
      other families transferred HLA-matched and unaffected euploid embryos, resulting 
      in two healthy 'savior babies.' NGS-PGT results were confirmed in prenatal 
      diagnosis. Therefore, NGS-SNP was effective in performing PGT for multipurpose 
      detection within a single PGT cycle.
FAU - Chen, Dongjia
AU  - Chen D
AUID- ORCID: 0000-0002-2419-2575
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangzhou, China.
AD  - Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
FAU - Shen, Xiaoting
AU  - Shen X
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangzhou, China.
AD  - Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
FAU - Xu, Yan
AU  - Xu Y
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangzhou, China.
AD  - Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
FAU - Ding, Chenhui
AU  - Ding C
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangzhou, China.
AD  - Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
FAU - Ye, Qingjian
AU  - Ye Q
AD  - Department of Gynecology, The Third Affiliated Hospital of Sun Yat-Sen 
      University, Guangzhou, China.
FAU - Zhong, Yiping
AU  - Zhong Y
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangzhou, China.
AD  - Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
FAU - Xu, Yanwen
AU  - Xu Y
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangzhou, China.
AD  - Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
FAU - Zhou, Canquan
AU  - Zhou C
AD  - Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-sen 
      University, Guangzhou, China.
AD  - Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangzhou, China.
LA  - eng
PT  - Journal Article
DEP - 20210125
PL  - England
TA  - Syst Biol Reprod Med
JT  - Systems biology in reproductive medicine
JID - 101464963
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Aneuploidy
MH  - Embryo Transfer
MH  - Female
MH  - HLA Antigens/genetics
MH  - Histocompatibility Testing
MH  - Humans
MH  - Pregnancy
MH  - *Preimplantation Diagnosis
MH  - *beta-Thalassemia/diagnosis/genetics
OTO - NOTNLM
OT  - Thalassemia
OT  - human leukocyte antigen typing
OT  - next-generation sequencing
OT  - preimplantation genetic testing
EDAT- 2021/01/27 06:00
MHDA- 2021/12/15 06:00
CRDT- 2021/01/26 05:27
PHST- 2021/01/27 06:00 [pubmed]
PHST- 2021/12/15 06:00 [medline]
PHST- 2021/01/26 05:27 [entrez]
AID - 10.1080/19396368.2020.1832158 [doi]
PST - ppublish
SO  - Syst Biol Reprod Med. 2021 Apr;67(2):151-159. doi: 10.1080/19396368.2020.1832158. 
      Epub 2021 Jan 25.