Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, No. 49, North Garden Road, Haidian district, Beijing, 100191, China.
National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China.
J Assist Reprod Genet. 2023 Nov;40(11):2659-2668. doi: 10.1007/s10815-023-02924-7. Epub 2023 Sep 21.
While efforts have been made to establish blastocyst grading systems in the past decades, little research has examined the quality of biopsy specimens. This study is the first to correlate the morphology of biopsied trophectoderm (TE) cells to their quality and subsequent genetic testing results of preimplantation genetic testing (PGT), through an innovative Morphological Analysis and Genetic Integrality Criterion (MAGIC) system.
Biopsied TE cells were first evaluated according to the MAGIC procedure, followed by whole-genome amplification (WGA) and library construction, and then sequenced using the Illumina X Ten Platform. Copy number variation (CNV) and allele drop-out (ADO) rates as well as test failure rates were compared and analyzed.
Our data explores the relationship between TE cell morphology and its quality and final genetic testing outcome, which is established based on the MAGIC system. MAGIC guarantees that only high- or good-quality TE cells are used for genetic testing to generate excellent data uniformity and lower ADO rates. Low-quality cells containing biopsied TE cell mass are responsible for the "background noise" of CNV analysis.
The MAGIC application has effectively decreased the false-positive mosaicism, hence to ensure the stability and veracity of detection results, to avoid misdiagnoses, and to improve accuracy, as well as to avoid re-biopsy procedures. The study also contributes to understand how the IVF laboratory and the molecular biology laboratory depend on each other to achieve good-quality PGT results, which are clinically relevant for the patients.
尽管过去几十年来已经努力建立囊胚分级系统，但很少有研究检查活检标本的质量。这项研究首次通过创新的形态分析和遗传完整性标准（MAGIC）系统，将活检滋养外胚层（TE）细胞的形态与其质量以及随后的植入前遗传学检测（PGT）的遗传检测结果相关联。
首先根据 MAGIC 程序评估活检 TE 细胞，然后进行全基因组扩增（WGA）和文库构建，然后使用 Illumina X Ten 平台进行测序。比较和分析了拷贝数变异（CNV）和等位基因丢失（ADO）率以及测试失败率。
我们的数据探讨了 TE 细胞形态与其质量和最终遗传检测结果之间的关系，这是基于 MAGIC 系统建立的。MAGIC 保证只有高质量或良好质量的 TE 细胞用于遗传检测，以产生出色的数据均匀性和较低的 ADO 率。含有活检 TE 细胞团的低质量细胞是 CNV 分析“背景噪声”的原因。
MAGIC 的应用有效地降低了假阳性镶嵌性，从而确保了检测结果的稳定性和准确性，避免误诊，并提高了准确性，同时避免了重新进行活检程序。该研究还有助于了解 IVF 实验室和分子生物学实验室如何相互依赖以获得高质量的 PGT 结果，这对患者具有临床意义。
