本文選題：植入前遺傳學(xué)篩查(PGS) + 第二代PGS��； 參考：《生殖與避孕》2015年02期

【摘要】：研究證明基于囊胚期活檢和全基因組分析技術(shù)的"第二代植入前遺傳學(xué)篩查(PGS)"可以顯著提高IVF治療的臨床結(jié)局。目前認(rèn)為囊胚期活檢是PGS活檢的最佳時間,也是第二代PGS采用的活檢方法。具體為通過單細(xì)胞全基因組擴增技術(shù)使樣本達到可檢測的量,再利用微陣列技術(shù)、高通量測序技術(shù)完成全基因組檢測。除了技術(shù)方面的改進,第二代PGS還應(yīng)在適用人群的選擇方面綜合考慮不孕者胚胎非整倍體的發(fā)生率和可用于移植的囊胚數(shù)2個方面,PGS的最適宜人群應(yīng)該是排除了內(nèi)膜因素的影響后其染色體異常發(fā)生率較高、同時可移植胚胎數(shù)較多者。
[Abstract]:It has been proved that the second generation preimplantation genetic screening based on blastocyst biopsy and whole genome analysis can significantly improve the clinical outcome of IVF therapy. Currently, blastocyst stage biopsy is considered to be the best time for PGS biopsy and the second generation PGS biopsy method. In particular, the whole genome can be detected by single-cell whole genome amplification technology, and then complete the whole genome detection by using microarray technology and high-throughput sequencing technology. In addition to technical improvements, The second generation of PGS should also take into account the incidence of aneuploidy in infertile embryos and the number of blastocysts available for transplantation. The most suitable population for PGS should be to exclude the influence of endometrial factors. The incidence of chromophore abnormality was higher, More embryos could be transferred at the same time.
【作者單位】： 復(fù)旦大學(xué)附屬婦產(chǎn)科醫(yī)院;上海集愛遺傳與不育診療中心;上海市女性生殖內(nèi)分泌相關(guān)疾病重點實驗室;
【分類號】：R714.8

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