胚胎培养液中游离DNA应用于植入前遗传学筛查中的研究进展

植入前遗传学筛查（preimplantation genetic screening，PGS）是指在体外受精-胚胎移植过程中，对具有高遗传风险患者的胚胎进行种植前活检和遗传学分析，选择遗传物质正常的胚胎植入母体宫腔，从而获得健康子代的诊断方法。目前，PGS仍主要通过胚胎活检获取细胞进行遗传学检测，而该有创过程可能会对胚胎发育及产科结局产生不良影响。近年研究发现胚胎培养液中含有胚胎来源的游离DNA片段，其含量与胚胎的碎片率呈正相关，并已在胚胎染色体及单基因疾病的检测和诊断方面得到了初步应用，开创了胚胎无创性PGS的先河。对胚胎培养液中游离DNA进行植入前遗传学筛查具有无创、取材简便、在分子水平检...

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Bibliographic Details
Published in国际生殖健康/计划生育杂志 Vol. 36; no. 4; pp. 323 - 326
Main Author 赵雪 张玲
Format Journal Article
LanguageChinese
Published 华中科技大学同济医学院计划生育研究所, 武汉,430030 2017
Subjects
DNA
产前诊断
无创染色体筛查
植入前诊断
游离DNA
生殖技术,辅助
游离DNA
Preimplantation diagnosis
Reproductive techniques,assisted
无创染色体筛查
Prenatal diagnosis
生殖技术,辅助
DNA
植入前诊断
Noninvasive chromosome screening
Cell free DNA
产前诊断
Online AccessGet full text
ISSN1674-1889

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Summary:植入前遗传学筛查（preimplantation genetic screening，PGS）是指在体外受精-胚胎移植过程中，对具有高遗传风险患者的胚胎进行种植前活检和遗传学分析，选择遗传物质正常的胚胎植入母体宫腔，从而获得健康子代的诊断方法。目前，PGS仍主要通过胚胎活检获取细胞进行遗传学检测，而该有创过程可能会对胚胎发育及产科结局产生不良影响。近年研究发现胚胎培养液中含有胚胎来源的游离DNA片段，其含量与胚胎的碎片率呈正相关，并已在胚胎染色体及单基因疾病的检测和诊断方面得到了初步应用，开创了胚胎无创性PGS的先河。对胚胎培养液中游离DNA进行植入前遗传学筛查具有无创、取材简便、在分子水平检测胚胎的遗传物质等优点，有巨大的应用前景。但目前该技术尚处于研究阶段，存在易污染和特异性较差等问题，有待进一步完善。
Bibliography:Preimplantation genetic screening （PGS） is a method used in the process of IVF-ET to help those patients with the high risks of genetic diseases to select a normal embryo to transfer by cell biopsy and genetic analysis, so as to get healthy babies. However, PGS is an invasive method at present which depends on the cell biopsy, with the potential risks for the embryonic development and offspring, and obstetrics and neonate. In recent years, the cell-free DNA with embryonic genetic material in the embryo culture medium has been found, which is positively associated with the embryonic fragment rate. This cell-free DNA has been tried to use in the detection of aneuploidy and single gene disease, which provided a new method of a non-invasive PGS with some advantages of non-invasive test, easy to get samples and the ability of embryo genetic detection at the molecular level. This technology needs to be furtherly optimized before its application in clinical practice because the cell-free DNA is easy to pollute, and
ISSN:1674-1889