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胎儿基因侵入性检查的胎儿及母体结果分析:某大学医院的一项探索性研究

Analysis of fetal and maternal results from fetal genetic invasive procedures: an exploratory study at a University Hospital.

作者信息

Kohatsu Mario, Carvalho Mário Henrique Burlacchini de, Vieira Francisco Rossana Pulcineli, Amorim Filho Antônio Gomes de, Zugaib Marcelo

机构信息

Departamento de Obstetrícia e Ginecologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.

出版信息

Rev Assoc Med Bras (1992). 2012 Nov-Dec;58(6):703-8. doi: 10.1590/s0104-42302012000600016.

DOI:10.1590/s0104-42302012000600016
PMID:23250100
Abstract

OBJECTIVE

To characterize the indications of pregnant women who sought the Fetal Medicine Services of the Hospital das Clínicas, at the Medical School of the Universidade de São Paulo for performing invasive diagnostic procedures, and to evaluate the results of fetal karyotypes and their pregnancies.

METHODS

A retrospective and observational study on pregnant women who underwent chorionic villus sampling (CVS), amniocentesis, and cordocentesis in the period from February, 2005 to December, 2009. Other diagnostic or therapeutic procedures were not included. The result of pregnancy was obtained by consulting patient electronic records, medical records, and/or telephone call.

RESULTS

713 procedures were performed (113 CVS, 340 amniocenteses, and 260 cordocenteses). The main indication for performing invasive procedures was the presence of structural changes in fetuses, followed by increased values of nuchal translucency, and advanced maternal age. Fetal karyotype was altered in 186 cases (26.1%). The 18 trisomy was the commonest aneuploidy followed by the 21 trisomy, X monosomy, and 13 trisomy. There were 4.9% cases of miscarriage, 25.7% cases of stillborn infants, and 13% cases of neonatal deaths. Eight pregnant women opted for legally induced abortion. 99% of pregnant women whose fetuses did not present abnormalities and presented normal fetal karyotype had infants who were born alive.

摘要

目的

描述在圣保罗大学医学院临床医院寻求胎儿医学服务以进行侵入性诊断程序的孕妇的指征,并评估胎儿核型结果及其妊娠情况。

方法

对2005年2月至2009年12月期间接受绒毛取样(CVS)、羊膜穿刺术和脐带穿刺术的孕妇进行回顾性观察研究。不包括其他诊断或治疗程序。通过查阅患者电子记录、病历和/或电话随访获得妊娠结果。

结果

共进行了713例手术(113例CVS、340例羊膜穿刺术和260例脐带穿刺术)。进行侵入性手术的主要指征是胎儿存在结构改变,其次是颈部透明带厚度值增加和孕妇年龄偏大。186例(26.1%)胎儿核型异常。18三体是最常见的非整倍体,其次是21三体、X单体和13三体。有4.9%的流产病例、25.7%的死产病例和13%的新生儿死亡病例。8名孕妇选择了合法引产。99%的胎儿无异常且核型正常的孕妇所生婴儿存活。

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