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[解析携带者状态技术的等位基因定位在平衡染色体易位携带者植入前基因检测中的应用]

[Application of mapping allele with resolved carrier status technique for preimplantation genetic testing in carriers with balanced chromosomal translocations].

作者信息

Huang Qiuxiang, Liu Yun, Lin Chunli, Chen Zhibiao, Liu Zhiren, Huang Wujian, Mao Lihua, He Lingyun, Wang Zhihong

机构信息

Department of Obstetrics & Gynecology, Center of Reproductive Medicine, Fuzong Clinical College of Fujian Medical University (900th Hospital of the Joint Logistics Team)/ Dongfang Hospital Affiliated to Xiamen University (900th Hospital of the Joint Logistics Team), Fuzhou, Fujian 350025, China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):845-848. doi: 10.3760/cma.j.cn511374-20200629-00479.

Abstract

OBJECTIVE

To assess the application value of mapping allele with resolved carrier status (MaReCs) technique for preimplantation genetic testing (PGT).

METHODS

The characteristics of MaReCs for PGT and outcome of patients were retrospectively analyzed.

RESULTS

Compared with those who could not use the technique, carriers who have used the MaReCs technique were younger, had significantly higher level of anti-Mullerian hormone, more antral follicles, occytes, mature occytes, biopsied embryos and euploid embryos, and lower risks for de novo chromosomal abnormality (P<0.05). It was necessary for couples with fewer oocytes, mature oocytes and balstocyst to preserve discarded embryos to facilitate the test. Carriers who have used the MaReCs technique had higher clinical pregnancy rate and abortion rate compared with those undergoing routine PGT, albeit no significant difference was found between the two groups (P> 0.05). Carriers undergoing MaReCs test could preferentially select embryos with normal chromosome structures for the transfer.

CONCLUSION

Application of MaReCs has a prerequisite for having a minimum number of occytes and biopsied embryos and using discarded embryos sometimes. MaReCs is efficient for the detection of carrier status of embryos and attaining higher rate of pregnancy and live birth, which can significantly improve the outcome for couples carrying chromosomal translocations.

摘要

目的

评估植入前基因检测(PGT)中携带状态解析等位基因图谱(MaReCs)技术的应用价值。

方法

回顾性分析PGT的MaReCs特征及患者结局。

结果

与未使用该技术的携带者相比,使用MaReCs技术的携带者年龄更小,抗苗勒管激素水平显著更高,窦卵泡、卵母细胞、成熟卵母细胞、活检胚胎和整倍体胚胎更多,新发染色体异常风险更低(P<0.05)。卵母细胞、成熟卵母细胞和囊胚较少的夫妇有必要保存废弃胚胎以利于检测。与接受常规PGT的携带者相比,使用MaReCs技术的携带者临床妊娠率和流产率更高,尽管两组之间差异无统计学意义(P>0.05)。接受MaReCs检测的携带者可优先选择染色体结构正常的胚胎进行移植。

结论

MaReCs的应用有一个前提条件,即至少有一定数量的卵母细胞和活检胚胎,且有时要使用废弃胚胎。MaReCs在检测胚胎携带状态以及实现更高的妊娠率和活产率方面是有效的,可显著改善携带染色体易位夫妇的结局。

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