Fluorescence in situ hybridization reanalysis of day-6 human blastocysts diagnosed with aneuploidy on day 3
Fluorescence in situ hybridization reanalysis of day-6 human blastocysts diagnosed with aneuploidy on day 3
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DOI：
10.1016/j.fertnstert.2005.04.068
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发表时间：
2005-11-01
影响因子：
6.7
通讯作者：
Hill, DL
中科院分区：
文献类型：
--
作者：
Li, M;DeUgarte, CM;Hill, DL
目的：确定第6天囊胚分析与第3天荧光原位杂交（FISH）非整倍体诊断的一致性。设计：回顾性研究。设置：体外受精实验室。患者：660个胚胎来自94名接受植入前遗传学诊断的IVF/胞浆内单精子注射患者。干预：无。主要结局指标：第3天单卵裂球活检。分析了染色体13、18、21、X和Y的非整倍性筛选。结果：在660枚胚胎中，整倍体胚胎367枚（55.6%），非整倍体胚胎281枚（42.6%）。在整倍体胚胎中，移植了213个胚胎，68个在第5天冷冻，剩下86个。所有281个非整倍体胚胎进一步培养，55个（19.6%）发育为囊胚。当进行FISH再分析时，55个囊胚中有33个（60%）被证实为非整倍体，与第3天的诊断一致。然而，55个囊胚中有22个（40%）被确定为整倍体。此外，207个非整倍体胚胎（73.7%）在第6天前停止，而86个整倍体胚胎中有32个（37.2%）。大多数不一致很可能是由于胚胎镶嵌和可能是有限的能力“自我纠正。"
Objective: To determine the concordance of day-6 blastocyst analysis with the day-3 fluorescence in situ hybridization (FISH) aneuploidy diagnosis.Design: Retrospective study.Setting: In vitro fertilization laboratory.Patient(s): Six hundred sixty embryos were included from 94 IVF/intracytoplasmic sperm injection patients undergoing preimplantation genetic diagnosis.Intervention(s): None.Main Outcome Measure(s): Single blastomeres biopsied on day 3. Aneuploidy screening for chromosomes 13, 18, 21, X, and Y were analyzed. Left-over blastocysts were reanalyzed on day 6.Result(s): Among the 660 embryos evaluated, 367 (55.6%) were euploid and 281 (42.6%) were aneuploid. Of the euploid embryos, 213 embryos were transferred, 68 were frozen on day 5, and 86 were left. All 281 aneuploid embryos were further cultured, and 55 (19.6%) progressed to blastocysts. When FISH reanalysis was performed, 33 of 55 blastocysts (60%) were confirmed aneuploid in concordance with the day-3 diagnosis. However, 22 of 55 blastocysts (40%) were determined to be euploid. In addition, 207 aneuploid embryos (73.7%) arrested before day 6, as opposed to 32 of the 86 euploid embryos (37.2%).Conclusion(s): Day-3 single-cell embryo biopsy reveals that aneuploidy can be confirmed in 60.7% of the blastocysts on reanalysis. The majority of discordance is most likely due to embryo mosaicism and possibly a limited ability to "self-correct."