Title326例早孕期绒毛膜活检产前诊断分析
Other Titles326 cases of early pregnancy chorionic biopsy prenatal diagnosis analysis
Authors马京梅
潘虹
孙瑜
付杰
于丽
杨慧霞
Affiliation北京大学第一医院 妇产科,北京,100034
Keywords介入性产前诊断
早孕期
绒毛穿刺术
单基因病
唐氏综合征
Invasive prenatal diagnosis
First trimester
Chorionic villus sampling
Single genetic disease
Down syndrome
Issue Date2015
Publisher中国医刊
Citation中国医刊.2015,(8),28-31.
Abstract目的:探讨早孕期绒毛膜活检( chorionic villus sampling,CVS)在产前诊断不同指征的应用价值及其安全性。方法对2012年1月至2014年12月在本院早孕期CVS进行回顾性分析,比较不同产前诊断指征构成、CVS手术并发症、培养成功率及结果。结果3年间326例早孕期CVS术中,指征以超声异常最为多见(144/326,44.2%),其次是单基因病家族史(79/326,24.2%)、不良孕产史(52/326,15%)和孕妇高龄(40/326,12.1%)。近远期随访并发症仅发现1例“单基因病家族史”指征孕妇术后6个月发生不明原因胎死宫内。绒毛行基因分析及荧光原位杂交技术检查均成功,绒毛行核型分析,总体成功率为95.7%(312/326),从2012~2014年成功率逐年提高(3年分别为91.0%、93.5%、98.3%)。染色体核型分析发现35例染色体异常(11.2%,35/312),其中32例产前诊断指征为“超声异常”(32/144,22.2%),以“单基因病家族史”指征者亦发现2例染色体异常(2/79,2.5%),不良孕产史1例染色体异常(1/52,1.9%)。结论早孕期CVS产前诊断适用于已知胎儿遗传疾病高风险孕妇,安全有效,但均应同时进行核型分析除外可能染色体异常。
Objective To explore the value and safety of first trimester chorionic villus sampling ( CVS) for different indications of prenatal diagnosis. Method A retrospective study was conducted in Peking University First Hospital from January 2012 to December 2014. The proportion of different prenatal diagnosis indications, procedure-related complications, report rate and result of karyotyping were analyzed. Result During the three-year period all 326 CVS cases were involved. The proportion of “abnormal ultrasound findings” was the highest (144/326, 44. 2%), fol-lowed by “family history of single gene disorders” (79/326,24. 2%), “negative reproductive history” (52/326, 15%),“advanced maternal age” (40/326,12. 1%). The follow-up record for safety evaluation found one case with intrauterine fetal death six months after CVS procedure. All testing for single gene disorders and FISH for common aneuploidy were reported. While for CVS long-term culture, the success rate was 95. 7% (312/326) and increased year by year (2012, 91. 0%;2013, 93. 5%;2014, 98. 3%). 35 aneuploidy were diagnosed with CVS (35/312, 11. 2%), 32 (32/144, 22. 2%) of chromosome abnormities were with indication of abnormal ultrasound findings, 2 (2/79, 2. 5%) were with indication of family history of single gene disorder,1(1/52, 1. 9%) was with negative reproductive history . Conclusion CVS is valuable with safety in prenatal diagnosis especially for pregnancy with high risk of fetal genetic diseases. Karyotyping should not be omitted even for those with indication of single gene disorders testing.
URIhttp://hdl.handle.net/20.500.11897/425244
ISSN1008-1070
DOI10.3969/j.issn.1008-1070.2015.08.010
Indexed中国科技核心期刊(ISTIC)
Appears in Collections:第一医院

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