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胚胎植入前基因诊断能帮助预后不良的患者实现妊娠吗?

Will preimplantation genetic diagnosis assist patients with a poor prognosis to achieve pregnancy?

作者信息

Gianaroli L, Magli M C, Munné S, Fiorentino A, Montanaro N, Ferraretti A P

机构信息

S.I.S.M.E.R., Reproductive Medicine Unit, Bologna, Italy.

出版信息

Hum Reprod. 1997 Aug;12(8):1762-7. doi: 10.1093/humrep/12.8.1762.

Abstract

PGD (preimplantation genetic diagnosis) of aneuploidy for chromosomes X, Y, 13, 18 and 21 was carried out on 196 embryos from 36 infertile patients classified with a poor prognosis due to (i) maternal age, (ii) repeated in-vitro fertilization (IVF) failures and (iii) mosaic karyotype. The percentage of abnormal embryos was comparable in the three groups of patients: maternal age 63%, repeated IVF failure 57%, and mosaic karyotype 62%. The analysis of the overall data revealed an increased incidence of abnormal embryos in the older age categories (predominantly due to aneuploidy), even in embryos at the 7- to 8-cell stage. In addition, the percentage of chromosomally abnormal embryos was directly proportional to the number of IVF failures, where the increase in chromosomal abnormalities was not correlated to aneuploidy but to other aberrations such as mosaicism and polyploidy. Following PGD, 28 patients had at least one embryo transferred that appeared normal by fluorescent in-situ hybridization (FISH). Four clinical pregnancies resulted, with an implantation rate of 10% per normal embryo. In conclusion, the high rate of chromosomally abnormal embryos in poor prognosis patients may have been the cause of implantation failure in their previous IVF cycles. Therefore, the possibility of transferring embryos with a normal FISH complement could improve the chance of pregnancy in this category of patients.

摘要

对36例因(i)母亲年龄、(ii)反复体外受精(IVF)失败和(iii)嵌合核型而被归类为预后不良的不育患者的196个胚胎进行了X、Y、13、18和21号染色体非整倍体的植入前基因诊断(PGD)。三组患者中异常胚胎的百分比相当:母亲年龄组为63%,反复IVF失败组为57%,嵌合核型组为62%。对总体数据的分析显示,即使在7至8细胞期的胚胎中,年龄较大组(主要由于非整倍体)异常胚胎的发生率也有所增加。此外,染色体异常胚胎的百分比与IVF失败的次数成正比,其中染色体异常的增加与非整倍体无关,而是与其他畸变如嵌合现象和多倍体有关。PGD后,28例患者至少有一个通过荧光原位杂交(FISH)显示正常的胚胎被移植。结果有4例临床妊娠,每个正常胚胎的着床率为10%。总之,预后不良患者中染色体异常胚胎的高发生率可能是其先前IVF周期着床失败的原因。因此,移植FISH互补正常的胚胎有可能提高这类患者的妊娠几率。

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