荧光原位杂交技术诊断非嵌合型 47，XYY 综合征不育男性行胚胎植入前遗传学诊断的结局。

Outcomes of Preimplantation Genetic Diagnosis Cycles by Fluorescent Hybridization of Infertile Males with Nonmosaic 47,XYY Syndrome.

机构信息

Center for Reproductive Medicine, Shandong University; National Research Center for Assisted Reproductive Technology and Reproductive Genetics; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, Shandong 250001; Department of Urology, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.

出版信息

Chin Med J (Engl). 2018 Aug 5;131(15):1808-1812. doi: 10.4103/0366-6999.237393.

DOI:10.4103/0366-6999.237393

PMID:30058577

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6071452/

Abstract

BACKGROUND

The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization (FISH) and preimplantation genetic diagnosis (PGD) treatment.

METHODS

This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student's t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher's exact test when expected cell count was <5.

RESULTS

The 53 PGD cycles with 433 embryos were analyzed. The fixation rate was 89.6%, while the hybridization rate was 96.4%. There were 283 embryos with two sex chromosomal signals with clear diagnosis (65.4%). The numbers of no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups were 45 (10.4%), 14 (3.2%), 24 (5.5%), and 67 (15.5%), respectively. Embryos with abnormal signals were abandoned. The number of good-quality embryos was 210 (57.4%), including implanted embryos on day 4/day 5 and cryopreserved. The rates of good-quality embryos in the no nuclei fixed (22.2%), no signal in fixed nuclei (28.6%), and suspensive signal groups (33.3%) were comparable (P > 0.05), and were significantly lower than the normal signal group (66.4%, P < 0.001). The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively.

CONCLUSIONS

Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcome s.

摘要

背景

47，XYY 综合征可能导致生育问题。然而，很少有研究报道对这些患者的胚胎发育和妊娠结局进行全面研究。本研究旨在评估行荧光原位杂交（FISH）和植入前遗传学诊断（PGD）治疗的非嵌合 47，XYY 患者的临床结局。

方法

这是一项回顾性研究。2012 年 1 月至 2017 年 5 月，51 例非嵌合 47，XYY 综合征不育男性接受 FISH-PGD 治疗，纳入本研究。根据性染色体 FISH 结果，胚胎分别分为正常信号组、无核固定组、固定核无信号组、悬浮信号组和异常信号组，计算各组的发生率、固定率和杂交率。分析胚胎发育和妊娠结局。计量资料采用 Student's t 检验，计数资料采用卡方检验或 Fisher 确切概率法，当预期细胞数<5 时采用 Fisher 确切概率法。

结果

分析了 53 个 PGD 周期的 433 个胚胎。固定率为 89.6%，杂交率为 96.4%。有 283 个胚胎有两个清晰的性染色体信号，可明确诊断（65.4%）。无核固定组、固定核无信号组、悬浮信号组和异常信号组的数量分别为 45（10.4%）、14（3.2%）、24（5.5%）和 67（15.5%）。异常信号组的胚胎被丢弃。优质胚胎数为 210 个（57.4%），包括第 4 天/第 5 天植入和冷冻保存的胚胎。无核固定组（22.2%）、固定核无信号组（28.6%）和悬浮信号组（33.3%）的优质胚胎率相当（P>0.05），明显低于正常信号组（66.4%，P<0.001）。新鲜胚胎移植周期和冷冻胚胎移植周期的临床妊娠率分别为 70.6%和 85.7%。