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目的建立一套规范的产前筛查和诊断技术应用临床提高诊断率。方法对就诊遗传咨询的30866例。超声筛查诊断16933例;产前筛查337例;细胞遗传学检查10442例,其中外周血8987例,产前诊断1455例(包括绒毛、羊水、胎儿脐血细胞染色体和FISH)。基因诊断87例(产前基因诊断10例)。结果超声检查发现胎儿异常1829例。异常检出率10.80%。超声筛查诊断16933例中,随访结果与原报告不符的有3例,诊断率为99.98%,漏诊率0.02%。超声建立的软指标提示行羊水细胞染色体检查30例,发现3例18三体,可以看出超声在产前筛查中用于发现胎儿染色体异常,无疑是提供了一条新途径。细胞遗传学检查10442例,发现染色体异常1013例,其中常染色体异常489例(常染色体数目异常286例;常染色体结构异常199例),性染色体异常244例(性染色体数目异常111例;性染色体结构异常16例),脆性X染色体117例,76个家系);染色体变异280例(常染色体变异109例;性染色体变异171例);基因诊断87例,发现17例患者。结论联合应用多项诊断技术,提高了缺陷儿遗传病诊断率。
Objective To establish a set of normative prenatal screening and diagnostic techniques to improve clinical diagnosis. Methods Consultation of the Advisory Treatment of 30,866 cases. 16933 cases were diagnosed by ultrasound screening, 337 cases were prenatal screening, 10442 cases were cytogenetics, including 8987 cases of peripheral blood and 1455 cases of prenatal diagnosis (including chorionic, amniotic fluid and fetal cord blood cell chromosomes and FISH). 87 cases of genetic diagnosis (prenatal diagnosis of 10 cases). Results Ultrasound examination found abnormal fetus in 1829 cases. Anomaly detection rate of 10.80%. Ultrasound screening diagnosis of 16933 cases, follow-up results were inconsistent with the original report of 3 cases, the diagnostic rate was 99.98%, missed diagnosis rate of 0.02%. Ultrasound established soft index prompted amniotic fluid cell chromosome examination in 30 cases and found 3 cases of trisomy 18, we can see that ultrasound used in prenatal screening to detect fetal chromosomal abnormalities, no doubt provides a new way. There were 10442 cases of cytogenetics, of which 1013 cases were abnormal in cytogenetics. There were 489 cases of autosomal abnormality (286 cases of an autosomal abnormality; 199 cases of autosomal abnormalities), 244 cases of sex chromosome abnormality (111 cases of abnormal chromosomal number; Structural abnormalities in 16 cases), fragile X chromosomes in 117 cases and 76 pedigrees), chromosomal aberrations in 280 cases (109 cases of autosomal aberrations and 171 cases of sex chromosome aberrations), 87 cases of gene diagnosis and 17 cases were found. Conclusion The combination of multiple diagnostic techniques to improve the diagnosis of defective children’s genetic disease.