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非整倍体的植入前基因诊断与男性不育症

Preimplantation genetic diagnosis of aneuploidy and male infertility.

作者信息

Gianaroli L, Munné S, Magli M C, Ferraretti A P

机构信息

S.I.S.ME.R. Reproductive Medicine Unit, Bologna, Italy.

出版信息

Int J Androl. 1997;20 Suppl 3:31-4.

PMID:9466183
Abstract

Preimplantation genetic diagnosis (PGD) of aneuploidy was performed on 49 patients diagnosed with severe male factor infertility and a poor prognosis of pregnancy due to: 1) advanced maternal age; 2) repeated IVF failures; and 3) altered karyotype in peripheral blood. The results attained were compared to those derived from 28 normospermic patients presenting the same poor prognostic indications. In all, 445 embryos were selected for fluorescent in-situ hybridization (FISH) analysis on the basis of their morphological evaluation. In 23 embryos (5%) no result was obtained, whereas 168 embryos (40%) were diagnosed as normal and 206 (49%) as FISH abnormal. Following PGD, 60 patients had at least one chromosomally normal embryo transferred resulting in 15 clinical pregnancies. The analysis of the embryos derived from intracytoplasmic sperm microinjection (ICSI) in comparison to those obtained after conventional insemination, revealed that the percentages of FISH abnormal embryos were similar between the two groups (48% versus 50%). Similarly, the distribution of chromosomal abnormalities did not vary significantly; however, a higher incidence of anuclear blastomeres resulted following ICSI (14% versus 6% after conventional insemination). These data suggest that no increase in terms of chromosomally abnormal embryos is associated with the condition of severe male infertility. However, genetic counselling in ICSI patients is recommended in order to evaluate the possibility of an increased genetic risk and its transmission to the next generation.

摘要

对49例被诊断为严重男性因素不育且妊娠预后不良的患者进行了非整倍体植入前基因诊断(PGD),这些患者的不良预后原因包括:1)产妇年龄较大;2)反复体外受精失败;3)外周血核型改变。将获得的结果与28例具有相同不良预后指征的正常精子患者的结果进行比较。总共根据形态学评估选择了445个胚胎进行荧光原位杂交(FISH)分析。23个胚胎(5%)未得到结果,168个胚胎(40%)被诊断为正常,206个胚胎(49%)FISH异常。PGD后,60例患者至少移植了一个染色体正常的胚胎,导致15例临床妊娠。与传统授精后获得的胚胎相比,对卵胞浆内单精子注射(ICSI)获得的胚胎进行分析,结果显示两组FISH异常胚胎的百分比相似(48%对50%)。同样,染色体异常的分布没有显著差异;然而,ICSI后无核卵裂球的发生率更高(14%对传统授精后的6%)。这些数据表明,严重男性不育症患者染色体异常胚胎的数量没有增加。然而,建议对ICSI患者进行遗传咨询,以评估遗传风险增加及其向下一代传递的可能性。

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