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目的通过各产前诊断指征孕妇羊水细胞染色体核型分析探讨产前诊断策略。方法对各产前诊断指征孕妇选择羊膜腔穿刺抽取羊水并统计分析染色体核型。结果各产前诊断指征中占比例最高的分别为血清学筛查高风险(4641例)、高龄(1774例)和超声异常(569例)。7915例羊水细胞染色体核型共检出异常核型265例,检出率为3.35%,其中检出率最高的指征是夫妇一方是染色体异常或平衡易位携带者(23.18%),其次是超声异常(9.83%)。染色体数目异常188例,其中常染色体非整倍体异常以21,18三体最为常见,性染色非整倍体异常以45,X最为常见;结构异常77例,以平衡易位为主。21三体主要分布在高龄、血清筛查高风险及超声异常中,尤以高龄最为显著。结论 1通过羊膜腔穿刺及染色体核型分析仍然是产前诊断胎儿染色体异常的金标准;221三体是最常见的染色体异常;3无创产前DNA检测技术不能取代血清学筛查,更不能取代羊膜腔穿刺和超声检查,它们合理组合应用方能更好地进行产前诊断。
Objective To investigate the prenatal diagnostic strategies by analyzing the karyotypes of amniotic fluid cells in prenatal diagnosis. Methods All prenatal diagnosis indications for pregnant women choose amniocentesis amniocentesis for amniotic fluid extraction and statistical analysis of karyotype. Results The highest proportion of prenatal diagnosis indications were high risk of serological screening (4641 cases), advanced age (1774 cases) and abnormal ultrasound (569 cases). A total of 265 cases of abnormal karyotypes were found in 7915 cases of amniotic fluid cell karyotype, the detection rate was 3.35%. The highest detection rate was that the couple had chromosomal abnormalities or balanced translocations (23.18%), followed by Abnormal ultrasound (9.83%). The number of chromosome abnormalities in 188 cases, of which autosomal aneuploidy 21,18 trisomy most common, sexually stained aneuploidy abnormal 45, X is the most common; structural abnormalities in 77 cases, mainly to balance the translocation. 21 trisomy is mainly distributed in the elderly, high risk of serum screening and ultrasound abnormalities, especially in the most prominent old age. Conclusions1 Through amniocentesis and chromosome karyotype analysis is still the gold standard for prenatal diagnosis of fetal chromosomal abnormalities; trisomy 221 is the most common chromosomal abnormality; 3 noninvasive prenatal DNA detection technology can not replace the serological screening, but can not replace Amniocentesis and ultrasonography, which can be used in a reasonable combination of prenatal diagnosis.