title: Medium-based noninvasive preimplantation genetic diagnosis for human α-thalassemias-SEA.
abstract: To develop a noninvasive medium-based preimplantation genetic diagnosis (PGD) test for α-thalassemias-SEA. The embryos of α-thalassemia-SEA carriers undergoing in vitro fertilization (IVF) were cultured. Single cells were biopsied from blastomeres and subjected to fluorescent gap polymerase chain reaction (PCR) analysis; the spent culture media that contained embryo genomic DNA and corresponding blastocysts as verification were subjected to quantitative-PCR (Q-PCR) detection of α-thalassemia-SEA. The diagnosis efficiency and allele dropout (ADO) ratio were calculated, and the cell-free DNA concentration was quantitatively assessed in the culture medium. The diagnosis efficiency of medium-based α-thalassemias-SEA detection significantly increased compared with that of biopsy-based fluorescent gap PCR analysis (88.6% vs 82.1%, P < 0.05). There is no significant difference regarding ADO ratio between them. The optimal time for medium-based α-thalassemias-SEA detection is Day 5 (D5) following IVF. Medium-based α-thalassemias-SEA detection could represent a novel, quick, and noninvasive approach for carriers to undergo IVF and PGD.
authors: From the Reproductive Medicine Center, First Afﬁliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China, Guangdong Provincial Key Laboratory of Reproductive Medicine.
authors: Haitao
authors: H
authors: Wu
authors: Chenhui
authors: C
authors: Ding
authors: Xiaoting
authors: X
authors: Shen
authors: Jing
authors: J
authors: Wang
authors: Rong
authors: R
authors: Li
authors: Bing
authors: B
authors: Cai
authors: Yanwen
authors: Y
authors: Xu
authors: Yiping
authors: Y
authors: Zhong
authors: Canquan
authors: C
authors: Zhou
mesh_terms: D000328:Adult; D001755:Blastocyst; D002474:Cell-Free System; D004247:DNA / Q000032:analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods; D019836:Preimplantation Diagnosis / Q000379:methods*; D055815:Young Adult; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004247:DNA