Prenatal Diagnosis of Trisomy 13
Prenatal Diagnosis of Trisomy 13
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13 三体的产前诊断
DOI：
10.7863/jum.2006.25.4.429
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发表时间：
2006
影响因子：
2.3
通讯作者：
Z. Papp
中科院分区：
文献类型：
--
作者：
C. Papp;A. Beke;Z. Bán;Z. Szigeti;E. Tóth‐Pál;Z. Papp
Objective.本研究旨在探讨孕中期超声检查在13三体产前诊断中的作用。方法.在1990年至2004年的22,150例胎儿染色体分析中，发现了28例13三体胎儿。本研究分析了这种非整倍体的超声表现。结果母亲平均年龄为32.4岁;平均胎龄为19.5周。在该系列中，13三体胎儿超声异常的总患病率为89.3%（n = 25）。23例（82.1%）出现严重（结构）畸形，而16例（57.1%）超声检查发现轻微异常。虽然在2个胎儿中，1个轻微异常是13三体的唯一超声征象，但其他轻微异常的病例（87.5% [n = 14]）为多发性畸形，其中超声检查检测到主要和轻微异常的组合。最常见的结构异常是中枢神经系统和面部异常（64.3% [n = 18]）。在中枢神经系统异常中，脑室扩大和前脑无裂畸形最常见。心血管异常检出率为53.6%（n = 15）的13三体胎儿。这种高频率强调了超声心动图在诊断这种非整倍体中的重要性。在轻微异常中，颈部透明性增加（21.4%）和肠回声增强（17.9%）是最常见的结果。结论.中期妊娠超声检查能够显示13三体的特征性异常;因此，扫描可以指示胎儿核型分析是否可取。结合超声对胎儿心血管系统的仔细评估，肯定会增加13三体的检出率。
Objective. The purpose of this study was to investigate the role of second‐trimester sonographic examination in the prenatal diagnosis of trisomy 13. Methods. Of 22,150 fetal chromosome analyses, 28 fetuses with trisomy 13 were found between 1990 and 2004. Sonographic findings of this aneuploidy were analyzed in this study. Results. The average maternal age was 32.4 years; the average gestational age was 19.5 weeks. There was an 89.3% (n = 25) total prevalence of sonographic abnormalities in fetuses with trisomy 13 in this series. Major (structural) malformations were seen in 23 cases (82.1%), whereas minor anomalies were detected on sonography in 16 cases (57.1%). Although in 2 fetuses 1 minor anomaly was the only sonographic sign of trisomy 13, other cases with minor anomalies (87.5% [n = 14]) were multiplex malformations, in which combinations of major and minor anomalies were detected on sonography. The most frequently seen structural abnormalities were central nervous system and facial anomalies (64.3% [n = 18]). Among central nervous system anomalies, ventriculomegaly and holoprosencephaly were seen most frequently. Cardiovascular anomalies were detected in 53.6% (n = 15) of the fetuses with trisomy 13. This high frequency underlines the importance of echocardiography in diagnosing this aneuploidy. Among minor anomalies, increased nuchal translucency (21.4%) and echogenic bowel (17.9%) were the most common findings. Conclusions. Second‐trimester sonographic examination is capable of showing anomalies that are characteristic of trisomy 13; thus, the scan can indicate whether fetal karyotyping is advisable. Incorporation of careful assessment of the fetal cardiovascular system by sonography certainly increases the detection rate of trisomy 13.