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目的探讨产前诊断胎儿染色体异常病例的临床表现及妊娠结局,增强对染色体病产前识别能力,提高侵入性产前诊断阳性率。方法回顾性分析2012年1月-2016年12月在北京市海淀区妇幼保健院产前诊断的染色体异常病例,对其检出类型、产前诊断指征、孕期临床表现及妊娠结局进行相关统计分析。结果 177例产前诊断染色体异常病例中染色体数目异常143例,结构异常34例;产前诊断指征顺位排列依次为超声检查提示异常、NIPT高风险、血清学筛查高风险、高龄、夫妇一方为染色体异常携带者。超声提示胎儿软指标异常前5位依次为NT增厚、鼻骨缺如、脉络膜囊肿、肠管回声增强、长骨短;超声提示胎儿结构异常前5位依次为复杂性先天性心脏病、淋巴管囊肿、FGR、单纯房、室缺、唇腭裂。对于涉及大量基因的增加或减少,临床表现明确的病例多选择终止妊娠。对于新发染色体结构异常病例需结合多因素联合分析决定妊娠结局。结论在产前诊断的相关指征中,超声异常、NIPT及血清学筛查高风险和高龄仍是提示胎儿染色体病的主要高危因素,对于胎儿超声软指标NT增厚、鼻骨缺如、脉络膜囊肿及复杂性先天性心脏病、淋巴管囊肿及FGR等结构异常者需高度警惕染色体异常发生。充分的遗传咨询能影响妊娠结局。
Objective To investigate the clinical manifestations and pregnancy outcomes of prenatal diagnosis of fetal chromosomal abnormalities and to improve the ability of prenatal identification of chromosomal diseases and increase the positive rate of invasive prenatal diagnosis. Methods Retrospective analysis of the cases of chromosomal abnormalities diagnosed in prenatal period from January 2012 to December 2016 in Haidian District Maternal and Child Health Hospital of Beijing Municipality was carried out. The types of prenatal diagnosis, prenatal diagnosis indications, clinical manifestations during pregnancy and pregnancy outcome were analyzed statistically analysis. Results There were 143 abnormal chromosomes and 34 structural abnormalities in 177 cases of prenatal diagnosis of chromosomal abnormalities. The order of prenatal diagnosis followed by ultrasonography showed abnormalities, high risk of NIPT, high risk of serological screening, One is chromosomal abnormalities carriers. Ultrasound prompted fetal soft index abnormalities in the top 5 followed by NT thickened, missing nasal bones, choroidal cysts, increased intestinal echogenicity, long bones short; ultrasound prompted fetal structural abnormalities in the top 5 followed by complexity of congenital heart disease, lymphatic cysts, FGR, simple room, ventricular septal defect, cleft lip and palate. For a large number of genes involved in the increase or decrease, the clinical manifestations of multiple choice termination of pregnancy. Neonatal chromosomal abnormalities in the case of combination of multi-factor analysis should be combined to determine the outcome of pregnancy. Conclusion In the indications related to prenatal diagnosis, the abnormalities of ultrasound, NIPT and high risk of serological screening are still the main risk factors of fetal chromosome disease. NT is not only a soft index of fetus, but also has a lack of nasal bone, choroid cyst And complexity of congenital heart disease, lymphatic cysts and other structural abnormalities such as FGR need to be highly alert to the occurrence of chromosomal abnormalities. Adequate genetic counseling can affect pregnancy outcomes.