陽光婦產科診所: PGD

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2015年3月8日

PGD失敗錯誤率約10%

PGD基因放大偵測過程失敗錯誤率約10%

Genotype un-diagnosed	28 (10%)
Amplification failure	14 (5%)
Allele drop-out	14 (5%)

http://humrep.oxfordjournals.org/content/28/5/1435.full

2014年4月5日

囊胚約百分之40具染色體異常

Day 3胚胎約50-60%具有染色體異常

Day 5胚胎約40%具有染色體異常

囊胚期胚胎最易出現異常之染色體為Chr 21,22,X,Y

http://humrep.oxfordjournals.org/content/23/11/2596.full

PGD目前最被質疑之處為相當高比例本身同時具有正常與不正常之胚葉細胞(mosaicism ，10-90%不正常之胚葉細胞)
57%之Day 3胚胎 & 45%之Day 5胚胎具mosaicism現象

由於胚胎具自我修復異常細胞現象，PGD所檢驗胚葉細胞是否異常無法全然代表未來胚胎是否正常‧

http://humrep.oxfordjournals.org/content/21/1/223.full

2013年12月26日

Day4 胚胎可能尚無自我修復染色體之能力

Day4胚胎有高比例之染色體異常(>50%)

Day4前胚胎可能尚無自我修復染色體之能力

胚胎自我修復染色體之能力可能始自Day5囊胚期

http://humrep.oxfordjournals.org/content/28/6/1716.abstract

2013年12月25日

17%囊胚期胚胎同時兼具正常與異常染色體

PGD顯示，17%囊胚期胚胎同時兼具正常與異常染色體
這些胚胎仍可能發展成正常胚胎

囊胚期胚胎PGD並非全然準確

Of more significance may be the 17% of blastocysts that contained both diploid and aneuploid cells. The fate of these embryos is unclear. It is possible that the aneuploid cells have a growth disadvantage or are eliminated by processes such as apoptosis, leading to a decline in their numbers as development progresses, ultimately resulting in a normal fetus. If this scenario is correct, some diploid–aneuploid mosaic blastocysts may be viable and might be incorrectly discarded if aneuploid cells were detected following TE biopsy.

http://humrep.oxfordjournals.org/content/26/2/480.full