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首页> 外文期刊>Journal of assisted reproduction and genetics >Eleven healthy live births: a result of simultaneous preimplantation genetic testing of alpha- and beta-double thalassemia and aneuploidy screening
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Eleven healthy live births: a result of simultaneous preimplantation genetic testing of alpha- and beta-double thalassemia and aneuploidy screening

机译：11健康的活产：α-和β双胞嘧啶和非倍性筛查同时造成的遗传试验的结果

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Purpose To evaluate the efficacy of preimplantation genetic testing (PGT) for alpha- and beta-double thalassemia combined with aneuploidy screening using next-generation sequencing (NGS). Methods An NGS-based PGT protocol was performed between 2017 and 2018 for twelve couples, each of which carried both alpha- and beta-thalassemia mutations. Trophectoderm biopsy samples underwent whole-genome amplification using multiple displacement amplification (MDA), followed by NGS for thalassemia detection and aneuploidy screening. A selection of several informative single nucleotide polymorphisms (SNPs) established haplotypes. Aneuploidy screening was performed only on unaffected noncarriers and carriers. Unaffected and euploid embryos were transferred into the uterus through frozen-thawed embryo transfer (FET). Results A total of 280 oocytes were retrieved following 18 ovum pick-up (OPU) cycles, with 182 normally fertilized and 112 cultured to become blastocysts. One hundred and seven (95.5%, 107/112) blastocysts received conclusive PGT results, showing 56 (52.3%, 56/107) were unaffected. Thirty-seven (66.1%, 37/56) of the unaffected were also identified as euploid. One family had no transferable embryos. Unaffected and euploid embryos were then transferred into the uterus of the other 11 couples resulting in 11 healthy live births. The clinical pregnancy rate was 61.1% (11/18) per OPU and 68.8% (11/16) per FET, with no miscarriage reported. Seven families accepted the prenatal diagnosis and received consistent results with the NGS-based PGT. Conclusion This study indicated that NGS could realize the simultaneous PGT of double thalassemia and aneuploidy screening in a reliable and accurate manner. Moreover, it eliminated the need for multiple biopsies, alleviating the potential damages to the pre-implanted blastocysts.
机译：目的是评估α-和β-双中间血症的预催化遗传检测（PGT）的疗效使用下一代测序（NGS）结合非综太筛选。方法在2017和2018之间进行基于NGS的PGT方案，对于十二次夫妇，每种患者均携带α和β-血症血症突变。使用多个位移扩增（MDA）进行促肾小管活检样本进行全基因组扩增，其次是用于地中海贫血检测的NGS和非倍增性筛选。选择几种信息性单一核苷酸多态性（SNP）建立了单倍型。仅在不受影响的非载体和载体上进行非综太筛选。通过冷冻解冻的胚胎转移（FET）将不受影响的和欧倍体胚胎转移到子宫中。结果在18个卵子拾取（OPU）循环后，共检测了总共280个卵母细胞，并且通常受精182次，并培养112个以变为胚泡。一百七（95.5％，107/112）胚泡接受了决定性的PGT结果，显示出56（52.3％，56/107）不受影响。未受影响的三十七（66.1％，37/56）也被鉴定为欧洲单倍体。一个家庭没有可转移的胚胎。然后将不受影响和欧倍体胚胎转移到其他11对夫妻的子宫中，导致11种健康的活产。临床妊娠率为每种OPU 61.1％（11/18），每FET每次68.8％（11/16），报告没有流产。七个家庭接受产前诊断，并通过基于NGS的PGT接受一致的结果。结论本研究表明，NGS可以以可靠且准确的方式实现双层血症和非倍性筛查的同时PGT。此外，它消除了对多种活组织检查的需求，减轻了对预注入的胚泡潜在的损伤。

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