PMID- 31703132
OWN - NLM
STAT- MEDLINE
DCOM- 20191120
LR  - 20200108
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 11
DP  - 2019 Nov 10
TI  - [Application of NGS-based SNP haplotyping for preimplantation genetic diagnosis 
      for beta-thalassemia and HLA matching].
PG  - 1090-1093
LID - 10.3760/cma.j.issn.1003-9406.2019.11.008 [doi]
AB  - OBJECTIVE: To assess the value of next-generation sequencing (NGS)-based single 
      nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis 
      (PGD) for beta-thalassemia coupled with human leukocyte antigen (HLA) matching. 
      METHODS: Three couples were recruited. Couple 1 both carried a beta (IVS-2-654) 
      variation and had previously given birth to a son with beta thalassemia major. 
      Couple 2 respectively carried (cd41-42) and beta (IVS-2-654) but had no history of 
      pregnancy. Couple 3 respectively carried beta (CD17) and beta (IVS-2-654), and had a 
      daughter carrying beta (CD17). RESULTS: For couple 1, NGS-SNP typing identified two 
      embryos not only unaffected with thalassemia but also with matched HLA. One 
      blastocyst was transferred and resulted in successful pregnancy. A healthy baby 
      was born at 39th week of gestation. Its umbilical blood was used to treat the 
      sick brother through hemopoietic stem cell transplantation. For couple 2, seven 
      blastocysts were obtained. Second transplantation has resulted in successful 
      pregnancy. Prenatal diagnosis was consistent with PGD. For couple 3, two 
      blastocysts not only unaffected with thalassemia but also with no pathogenic copy 
      number variations were obtained. Transfer of one blastocyte resulted in 
      successful pregnancy, and prenatal diagnosis was consistent with PGD. CONCLUSION: 
      NGS-based SNP typing is an useful tool for selecting embryos unaffected with 
      beta-thalassemia and matched HLA through PGD.
FAU - Yang, Yan
AU  - Yang Y
AD  - Prenatal Diagnosis Center of Jiangxi Women and Children's Hospital, Nanchang, 
      Jiangxi 330006, China. lyq0914@126.com.
FAU - Liu, Yanqiu
AU  - Liu Y
FAU - Lu, Qing
AU  - Lu Q
FAU - Chen, Jia
AU  - Chen J
FAU - Luo, Haiyan
AU  - Luo H
FAU - Ma, Pengpeng
AU  - Ma P
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - 0 (HLA Antigens)
SB  - IM
MH  - DNA Copy Number Variations
MH  - Female
MH  - Fertilization in Vitro
MH  - HLA Antigens/*genetics
MH  - Haplotypes
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Male
MH  - *Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Preimplantation Diagnosis
MH  - beta-Thalassemia/*diagnosis/genetics
EDAT- 2019/11/09 06:00
MHDA- 2019/11/21 06:00
CRDT- 2019/11/09 06:00
PHST- 2019/11/09 06:00 [entrez]
PHST- 2019/11/09 06:00 [pubmed]
PHST- 2019/11/21 06:00 [medline]
AID - 940636230 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.11.008 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Nov 10;36(11):1090-1093. doi: 
      10.3760/cma.j.issn.1003-9406.2019.11.008.