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对土耳其人群中2407例胎儿的评估。

Evaluation of 2407 fetuses in a Turkish population.

作者信息

Ceylaner Gülay, Ceylaner Serdar, Günyeli Ilker, Ekici Eyüp, Celasun Bülent, Danişman Nuri

机构信息

Department of Genetics, Zekai Tahir Burak Women's Hospital, Ankara, Turkey.

出版信息

Prenat Diagn. 2007 Sep;27(9):800-7. doi: 10.1002/pd.1762.

Abstract

OBJECTIVES

Congenital anomalies and intrauterine fetal death (IUFD) are frequent problems in pregnancies. Detection of the etiology is important for genetic counseling, and presenting the geographic distribution of the causes of disorders is necessary for a national policy on precautions. Here, we report the findings of terminated fetuses due to IUFD and congenital anomalies in Turkish population.

METHODS

Physical examinations of fetuses and genetic evaluations of families were done. X-ray studies and autopsy were done in the event of necessity. Findings of these studies were combined with prenatal ultrasound results. All cases were classified according to ICD-10.

RESULTS

The number of fetuses examined was 2407. Out of these, 1268 fetuses had congenital anomalies. Neurologic anomalies and musculoskeletal system malformations were the most frequent disorders. Specific diagnoses were possible in 64% of all multiple malformation syndromes. Abnormal findings were detected in 18.8% of IUFD fetuses. Nine percent had congenital anomalies and 5.2% had cord complications. The percentage of twins and triplets was 7.5% and 13% of them had anomalies.

CONCLUSION

Postmortem evaluation is useful to detect findings necessary for genetic counseling. Our protocol is effective especially in fetuses with congenital anomalies but it can detect only some of the fetal reasons in IUFD cases. A more detailed protocol is needed to investigate IUFD cases.

摘要

目的

先天性异常和胎儿宫内死亡(IUFD)是妊娠中常见的问题。病因检测对于遗传咨询很重要,而呈现疾病原因的地理分布对于国家预防政策是必要的。在此,我们报告土耳其人群中因IUFD和先天性异常而终止妊娠的胎儿的研究结果。

方法

对胎儿进行体格检查并对家庭进行遗传评估。必要时进行X线检查和尸检。将这些研究结果与产前超声结果相结合。所有病例均根据国际疾病分类第10版(ICD - 10)进行分类。

结果

检查的胎儿数量为2407例。其中,1268例胎儿有先天性异常。神经学异常和肌肉骨骼系统畸形是最常见的疾病。在所有多重畸形综合征中,64%可以做出明确诊断。在IUFD胎儿中,18.8%检测到异常发现。9%有先天性异常,5.2%有脐带并发症。双胞胎和三胞胎的比例为7.5%,其中13%有异常。

结论

尸检评估有助于检测遗传咨询所需的结果。我们的方案尤其对有先天性异常的胎儿有效,但在IUFD病例中只能检测到部分胎儿病因。需要更详细的方案来调查IUFD病例。

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