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羊膜腔穿刺用于胎儿染色体异常产前诊断的评价

宋亦军 刘丛丛 刘俊涛 边旭明

生殖医学杂志2012,Vol.21Issue(4):358-362,5.
生殖医学杂志2012,Vol.21Issue(4):358-362,5.DOI:10.3969/j.issn.1004-3845.2012.04.013

羊膜腔穿刺用于胎儿染色体异常产前诊断的评价

Prenatal diagnosis value of amniocentesis for fetal chromosome abnormality

宋亦军 1刘丛丛 1刘俊涛 1边旭明1

作者信息

  • 1. 中国医学科学院,北京协和医院,北京协和医院妇产科,北京100730
  • 折叠

摘要

Abstract

Objective: To evaluate the prenatal diagnosis value of amniocentesis for aneuploidy. Methods: The amniocentesis was performed in 2nd trimester from Jan. 2005 to Dec. 2009 in prenatal diagnosis center of Peking Union Medical College Hospital. The data including the indication of amniocentesis, diagnosis results, procedure related miscarriage rate were retrospectively analyzed. Results: A total of 5,204 cases of amniocentesis were included in the analysis with 100% success rate. Among them, 93 cases of chromosome abnormality were found in 3,385 women in advanced maternal age (≥35 years old), and 50 cases of chromosome abnormality were found in the 1,846 women below 35 years. A total of 143 cases (2. 75%) of chromosome abnormality were diagnosed, forty-six (32. 2%) of them were trisomy 21, 18, 13, X, Y, which may cause severe malformation deformity. Among the 46 cases of severe chromosome abnormality, thirty (65. 2%) were women with advanced maternal age, while other 16 cases (34.8%) were women of age below 35 years. Seventeen cases of sex chromosome aneuploidy were diagnosed with 11 cases (64. 7%) in women with advanced maternal age and 6 cases (35. 3%) in women below 35 years. Procedure related miscarriage rate were 0. 13%. Conclusions; Amniocentesis with the assistant of instant ultrasound guidance was a reliable and relatively safe invasive prenatal diagnosis method in 2nd trimester. More accurate screening methods were needed to increase the detection rate and decrease the procedure related complication.

关键词

羊膜腔穿刺/染色体异常/产前诊断

Key words

Amniocentesis/ Chromosome abnormality/ Prenatal diagnosis

引用本文复制引用

宋亦军,刘丛丛,刘俊涛,边旭明..羊膜腔穿刺用于胎儿染色体异常产前诊断的评价[J].生殖医学杂志,2012,21(4):358-362,5.

生殖医学杂志

OACSTPCD

1004-3845

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