[高危人群的基因羊膜腔穿刺术。3081例经验]

[Genetic amniocentesis in high-risk populations. Experience in 3081 cases].

作者信息

Cerrillo Hinojosa Mabel, Yerena de Vega María Concepción, González Panzzi Maria Elena, Godoy Héctor, Galicia Jorge, Gutiérrez Nájar Alfonso

机构信息

Clinica de Reproducción y Genetica Hospital Angeles del Pedregal.

出版信息

Ginecol Obstet Mex. 2009 Apr;77(4):173-82.

PMID:19496509

Abstract

BACKGROUND

Prenatal diagnosis is an advantage for couples with certain lifestyles, ensures self-determination of an affected child or procreate a healthy. However, Mexico has been performed only in private hospitals and the National Medical Center November 20 ISSSTE and the National Institute of Perinatology.

OBJECTIVE

To evaluate the frequency of chromosomal abnormalities in 3081 amniocentesis performed in patients at high risk of having an affected child.

MATERIALS AND METHODS

we analyzed the results of amniocentesis performed between September 1987 and August 2006. Data analysis was done using frequency tables and chi-square, Yates corrected and Mantel-Haenzel.

RESULTS

Most studies were requested by maternal age, maternal distress and positive biochemical marker. 9% (< or = 14 weeks) were early amniocentesis and 91% regular (> or = 15 weeks). The samples were processed in triplicate in an open cultivation system. The fetal karyotype was obtained in 99.9% of the studies, 10.5 +/- 1.4 days. Chromosomal abnormalities were detected in 128 cases (4.2%), 103 were unbalanced and 25 balanced. The most frequent abnormalities were: Down syndrome 39%, balanced translocations 13.2%, 12.5% of Edwards syndrome, alterations in sex chromosomes and 11.5% unbalanced structural aberrations 7%.

CONCLUSIONS

Our data could be used to provide genetic counseling based on the experience reported here.

摘要

背景

产前诊断对某些特定生活方式的夫妇来说是一项优势，它能确保对患病胎儿的自主决定权，或者生育一个健康的孩子。然而，墨西哥仅在私立医院以及国家医学中心11月20日的ISSSTE和国家围产医学研究所开展此项诊断。

目的

评估在3081例有生育患病胎儿高风险的患者中进行羊膜穿刺术时染色体异常的发生率。

材料与方法

我们分析了1987年9月至2006年8月期间进行的羊膜穿刺术的结果。数据分析采用频率表以及卡方检验、耶茨校正检验和曼特尔 - 亨泽尔检验。

结果

大多数检查是因产妇年龄、产妇焦虑以及生化标志物呈阳性而要求进行的。9%（孕周≤14周）为早期羊膜穿刺术，91%（孕周≥15周）为常规羊膜穿刺术。样本在开放培养系统中进行一式三份处理。在99.9%的检查中获得了胎儿核型，耗时10.5±1.4天。检测到128例染色体异常（4.2%），其中103例为不平衡型，25例为平衡型。最常见的异常情况为：唐氏综合征39%、平衡易位13.2%、爱德华兹综合征12.5%、性染色体改变以及不平衡结构畸变11.5%、7%。