THE USE OF FIRST POLAR BODIES FOR PREIMPLANTATION DIAGNOSIS OF ANEUPLOIDY

THE USE OF FIRST POLAR BODIES FOR PREIMPLANTATION DIAGNOSIS OF ANEUPLOIDY
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DOI:
10.1093/oxfordjournals.humrep.a136027
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发表时间:
1995-04-01
期刊:
影响因子:
6.1
通讯作者:
COHEN, J
COHEN, J
中科院分区:
医学1区
文献类型:
--
作者:
MUNNE, S;DAILEY, T;COHEN, J

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接受体外受精(IVF)的患者中,很大一部分年龄大于或等于35岁。据估计,在这个年龄段,50%的胚胎染色体异常,非整倍体是主要因素。由于大多数非整倍体的起源是母体减数分裂I非分离,未受精的卵母细胞可以通过分析它们的第一极体来安全地筛选非整倍体。为了确定第一极体非整倍体分析的可行性,采用荧光原位杂交(FISH)方法对X、Y、18、13/21染色体或X、Y、18、16染色体同时进行极体分析。在检索的6小时内,88%的样品显示正常的分离,包括每种类型的单个染色体,具有双点杂交信号,对应于双染色体(中期I的染色体由两条染色单体组成)。其余的显示完整的二分体不分离(6%),或二分体不平衡的预分裂(6%),这导致一个染色单体分离或一个二分体和一个带有第一极体的染色单体分离。但只有34%的极体在检索后24小时或之后显示正常的分离,大多数其他极体显示平衡的预分裂,所有分析的染色体都有两个分离的杂交信号。在培养大于或等于24 h后,未分离和不平衡的预分裂率与新鲜卵母细胞相似。当两种类型的非整倍体一起考虑时,非整倍体随母亲年龄的增加而增加,虽然轻微,但显著(P = 0.025)。由于双体似乎在极体检索后不久就经历了快速的预分裂,因此只建议在极体检索后6小时内进行FISH非整倍体分析。
A large proportion of patients undergoing in-vitro fertilization (IVF) are aged greater than or equal to 35 years. It has been estimated that in this age group, 50% of embryos are chromosomally abnormal, with aneuploidy being the major contributing factor. Since the origin of most aneuploidies is maternal meiosis I non-disjunction, unfertilized oocytes could be safely screened for aneuploidy by analysing their first polar bodies. To determine the feasibility of first polar body aneuploidy analysis, polar bodies were analysed by fluorescence in-situ hybridization (FISH) using probes simultaneously for chromosomes X, Y, 18, 13/21 or X, Y, 18 and 16. Within 6 h of retrieval, 88% showed a normal segregation involving a single chromosome of each kind, with double-dotted hybridization signals, corresponding to dyads (chromosomes in metaphase I composed of two chromatids). The rest showed non-disjunction of full dyads (6%), or an unbalanced pre-division of dyads (6%), which gives a segregation of one chromatid or one dyad and a chromatid with the first polar body. But only 34% of polar bodies analysed 24 h after retrieval or later showed a normal segregation, with most of the other polar bodies showing balanced pre-division, with two separated hybridization signals for all the chromosomes analysed. The rates of non-disjunction and unbalanced pre-division after greater than or equal to 24 h in culture were similar to the rates in fresh oocytes. When both types of aneuploidy were considered together, an increase of aneuploidy with maternal age was detected, which although slight, was significant (P = 0.025). Because dyads seem to undergo rapid pre-division shortly after polar body retrieval, performance of FISH aneuploidy analysis of polar bodies is therefore only recommended when conducted within 6 h of their retrieval.