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体外受精后早期宫内死亡胚胎镜诊断的异常胚胎发育:23例初步报告

Abnormal embryonic development diagnosed embryoscopically in early intrauterine deaths after in vitro fertilization: a preliminary report of 23 cases.

作者信息

Philipp Tom, Feichtinger Wilfried, Van Allen Margot I, Separovic Evica, Reiner Angelika, Kalousek Dagmar K

机构信息

Ludwig Boltzmann Institute of Clinical Gynecology and Obstetrics, Danube Hospital, Vienna, Austria.

出版信息

Fertil Steril. 2004 Nov;82(5):1337-42. doi: 10.1016/j.fertnstert.2004.04.057.

DOI:10.1016/j.fertnstert.2004.04.057
PMID:15533356
Abstract

OBJECTIVE

To provide data about the phenotypic appearance of the embryo of early failed pregnancies after IVF.

DESIGN

Clinical prospective descriptive study.

SETTING

Tertiary care center.

PATIENT(S): Twenty-three women who had conceived by IVF and had a missed abortion before 12 weeks of gestation.

INTERVENTION(S): Embryoscopic examination of the embryo before curettage. Cytogenetic analysis of the chorionic villi by standard G-banding cytogenetic techniques or by comparative genomic hybridization in combination with flow cytometry analysis.

MAIN OUTCOME MEASURE(S): Embryonic phenotype and karyotype were determined.

RESULT(S): Twenty-one of 23 IVF embryos showed structural defects on embryoscopic examination. Seventeen of 23 specimens had a chromosomal abnormality. The majority were numerical aberrations such as monosomy X (2 cases). Trisomies for chromosomes 18 (one case), 16 (three cases), 15 (one case), 14 (two cases), 13 (one case), 12 (one case), 11 (one case), 10 (one case), 9 (one case), 8 (one case), and 3 (one case) were observed. A structural chromosome anomaly leading to a chromosomal trisomy was observed in one case. Aneuploidy explained the grossly abnormal embryonic development documented by embryoscopy in 15 of 21 cases.

CONCLUSION(S): Aneuploidy is the major factor affecting normal embryonic development in missed abortions after IVF. Further investigation is needed to elucidate mechanisms that might prevent normal embryogenesis but evade detection by the cytogenetic techniques used in the present study.

摘要

目的

提供关于体外受精后早期妊娠失败胚胎表型外观的数据。

设计

临床前瞻性描述性研究。

地点

三级医疗中心。

患者

23名通过体外受精受孕且在妊娠12周前发生稽留流产的女性。

干预措施

刮宫术前对胚胎进行胚胎镜检查。采用标准G显带细胞遗传学技术或比较基因组杂交结合流式细胞术分析对绒毛膜绒毛进行细胞遗传学分析。

主要观察指标

确定胚胎表型和核型。

结果

23个体外受精胚胎中有21个在胚胎镜检查时显示结构缺陷。23个标本中有17个存在染色体异常。大多数为数目畸变,如X单体(2例)。观察到18号染色体三体(1例)、16号染色体三体(3例)、15号染色体三体(1例)、14号染色体三体(2例)、13号染色体三体(1例)、12号染色体三体(1例)、11号染色体三体(1例)、10号染色体三体(1例)、9号染色体三体(1例)、8号染色体三体(1例)和3号染色体三体(1例)。1例观察到导致染色体三体的结构染色体异常。非整倍体解释了21例中有15例胚胎镜检查记录的严重异常胚胎发育。

结论

非整倍体是影响体外受精后稽留流产中正常胚胎发育的主要因素。需要进一步研究以阐明可能阻止正常胚胎发生但逃避本研究中使用的细胞遗传学技术检测的机制。

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引用本文的文献

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Embryoscopy and karyotype findings of repeated miscarriages in recurrent pregnancy loss and spontaneous pregnancy loss.反复妊娠丢失和自然流产中多次流产的胚胎镜和核型分析结果。
J Assist Reprod Genet. 2018 Aug;35(8):1401-1406. doi: 10.1007/s10815-018-1226-1. Epub 2018 Jun 18.
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De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH.卵胞浆内单精子注射后新发复杂染色体内重排:通过细菌人工染色体微阵列比较基因组杂交进行特征分析
Mol Cytogenet. 2008 Dec 23;1:27. doi: 10.1186/1755-8166-1-27.