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目的分析产前染色体检查指征对21-三体综合征胎儿的诊断价值。方法回顾性分析该院已确诊的91例21-三体综合征胎儿染色体的检查指征,评估这些指征对21-三体综合征胎儿的诊断价值。结果 91例21-三体综合征胎儿中:唐氏筛查异常65例(其中高风险40例,占43.96%;低风险单一指标异常18例,占19.78%;低风险多重指标异常7例,占7.69%),占71.43%;超声异常49例(结构畸形伴软指标异常27例,占29.67%;单纯结构畸形19例,占20.88%;单纯超声软指标异常3例,占3.30%),占53.85%;孕妇高龄(>35岁)16例,占17.58%;异常生育史5例,占5.49%。结论重视产前染色体检查指征,尤其是孕妇高龄、异常婚育史、唐氏筛查和超声异常等染色体检查指征是预测胎儿染色体异常的有效指标,结合无创产前基因检测或染色体核型分析,对预防21-三体综合征胎儿的出生具有重要临床应用价值。
Objective To analyze the diagnostic value of prenatal chromosome examination in the fetus of 21-trisomy. Methods A retrospective analysis of the hospital has been diagnosed 91 cases of trisomy 21 fetal chromosomal examination indications to assess the indications of the diagnosis of 21-trisomy syndrome fetal value. Results 91 cases of trisomy 21 fetuses: Down’s screening abnormalities in 65 cases (of which 40 cases were high risk, accounting for 43.96%; low risk single indicator abnormalities in 18 cases, accounting for 19.78%; low risk multiple indicators were abnormal in 7 cases, (Accounting for 7.69%), accounting for 71.43%; 49 cases of ultrasonic abnormalities (structural abnormalities with soft index abnormalities in 27 cases, accounting for 29.67%; simple structural deformities in 19 cases, accounting for 20.88%; simple ultrasonic soft index abnormalities in 3 cases, accounting for 3.30% Accounting for 53.85%; pregnant women aged (> 35 years old) in 16 cases, accounting for 17.58%; abnormal birth history in 5 cases, accounting for 5.49%. Conclusion The emphasis on prenatal chromosome examination indications, especially pregnant women, abnormal marital history, Down’s screening and ultrasound abnormalities and other chromosomal indications is an effective indicator of fetal chromosomal abnormalities predict non-invasive prenatal genetic testing or chromosome karyotype Analysis, prevention of trisomy 21 birth of the fetus has important clinical value.