Huang Jin, Yan Liying, Lu Sijia, Zhao Nan, Xie X Sunney, Qiao Jie
Reproductive Medical Centre, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, People's Republic of China; Key Laboratory of Assisted Reproduction, Ministry of Education and Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing, People's Republic of China.
Yikon Genomics, Jiangsu, People's Republic of China.
Fertil Steril. 2016 Jun;105(6):1532-6. doi: 10.1016/j.fertnstert.2016.01.040. Epub 2016 Feb 19.
To validate a 24-chromosome aneuploidy preimplantation genetic screening protocol based on multiple annealing and looping-based amplification cycle (MALBAC) and next-generation sequencing (NGS).
Single-nucleotide polymorphism (SNP) array and MALBAC-NGS analysis.
University-affiliated in vitro fertilization (IVF) center.
PATIENT(S): Fifteen women from whom 30 blastocysts were obtained for genotyping.
INTERVENTION(S): Not applicable.
MAIN OUTCOME MEASURE(S): Chromosomal status comparison of results of array comparative genomic hybridization (aCGH), SNP array, and MALBAC-NGS for 24-chromosome aneuploidy screening.
RESULT(S): Trophectoderm biopsy samples from blastocysts were first analyzed using array comparative genomic hybridization (aCGH); the embryos with detected with chromosomal abnormalities were rebiopsied, and dissociated into two portions, and subjected to SNP array and MALBAC-NGS for 24-chromosome aneuploidy screening. All 30 samples were successfully genotyped by array CGH, SNP array, and MALBAC-NGS. All blastocysts were correctly identified as aneuploid, and there was a 100% concordance in terms of diagnosis provided between the three methods. In the 720 detected chromosomes, the concordance rate between MALBAC-NGS and array CGH was 99.31% (715 of 720), and the concordance rate between MALBAC-NGS and SNP array was 99.58% (717 of 720). When compared with aCGH, MALBAC-NGS specificity for aneuploidy call was 99.85% (674 of 675; 95% CI, 99.17-99.97) with a sensitivity of 91.11% (41 of 45; 95% CI, 79.27-96.49). When compared with SNP array, MALBAC-NGS specificity for aneuploidy call was 99.85% (676 of 677; 95% CI, 99.17-99.97) with a sensitivity of 95.35% (41 of 43; 95% CI, 85.54-98.72).
CONCLUSION(S): MALBAC-NGS provides concordant chromosomal results when compared with aCGH and SNP array in blastocysts with chromosomal abnormalities.
验证一种基于多次退火环状循环扩增技术（MALBAC）和新一代测序技术（NGS）的24条染色体非整倍体植入前基因筛查方案。
单核苷酸多态性（SNP）阵列和MALBAC-NGS分析。
大学附属医院体外受精（IVF）中心。
15名女性，获取了30个囊胚进行基因分型。
不适用。
用于24条染色体非整倍体筛查的阵列比较基因组杂交（aCGH）、SNP阵列和MALBAC-NGS结果的染色体状态比较。
首先使用阵列比较基因组杂交（aCGH）分析囊胚的滋养外胚层活检样本；检测到染色体异常的胚胎重新活检，解离为两部分，进行SNP阵列和MALBAC-NGS的24条染色体非整倍体筛查。所有30个样本均成功通过阵列CGH、SNP阵列和MALBAC-NGS进行基因分型。所有囊胚均被正确鉴定为非整倍体，三种方法之间的诊断一致性为100%。在检测的720条染色体中，MALBAC-NGS与阵列CGH之间的一致性率为99.31%（720条中的715条），MALBAC-NGS与SNP阵列之间的一致性率为99.58%（720条中的717条）。与aCGH相比，MALBAC-NGS对非整倍体检测的特异性为99.85%（675条中的674条；95%CI，99.17-99.97），敏感性为91.11%（45条中的41条；95%CI，79.27-96.49）。与SNP阵列相比，MALBAC-NGS对非整倍体检测的特异性为99.85%（677条中的676条；95%CI？99.17-99.97），敏感性为95.35%（43条中的41条；95%CI，85.54-98.72）。
与aCGH和SNP阵列相比，MALBAC-NGS在染色体异常的囊胚中提供了一致的染色体结果。
