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目的分析产前诊断技术在高危孕妇中的应用,指导孕期遗传咨询。方法回顾性分析7 529例因各种高危因素在河北省人民医院行产前诊断的临床病例资料。结果共检出染色体异常339例,异常检出率4.50%。不良孕产史者染色体异常检出率最高,达12.58%,超声占第二位。339例染色体异常核型中21-三体综合征占总异常核型的25.07%(85/339),55.16%(187/339)有超声软指标存在;因血清学筛查高危产前诊断确诊染色体异常核型中,除约1/2与21、18号染色体有关外,还涉及另外15种异常核型。因单一异常因素检出胎儿染色体异常79例,异常检出率为1.05%(79/7 529)。结论先天愚型是出生缺陷中发病率最高的疾病,在产前近半数的染色体病与21、18、13号和X、Y这5条染色体的数目和结构异常有关,有过不良孕产史的孕妇染色体异常检出率最高。唐氏血清学筛查和超声软指标在发现异常胎儿中发挥重要作用,单一异常因素对出生缺陷的检出作用不容忽视,在进行遗传咨询时应谨慎向孕妇及其家属交代这些风险的存在。
Objective To analyze the application of prenatal diagnosis in high-risk pregnant women and to guide the genetic counseling during pregnancy. Methods A retrospective analysis of 7 529 cases of various risk factors for prenatal diagnosis in Hebei Provincial People’s Hospital cases of clinical data. Results A total of 339 cases of chromosomal abnormalities were detected, the abnormal detection rate was 4.50%. Abortion history of chromosome abnormalities detected the highest rate of 12.58%, ultrasound accounted for the second. In 339 cases of karyotype abnormalities, 21 cases accounted for 25.07% (85/339) of the total abnormal karyotypes, and 55.16% (187/339) had the presence of ultrasound soft markers. Serological screening for high-risk prenatal diagnosis Chromosomal abnormalities karyotype, in addition to about 1/2 and 21,18 chromosomes related to, but also involved in the other 15 kinds of abnormal karyotype. A total of 79 cases of fetal chromosomal abnormalities were detected due to single anomaly, with an abnormality of 1.05% (79/7 529). Conclusion Down’s syndrome is the most common disease in birth defects. About half of the prenatal chromosomal diseases are related to the number and structural abnormalities of chromosomes 21, 18, 13 and X, Y, The highest detection rate of chromosomal abnormalities in pregnant women. Down’s serological screening and soft-sensor ultrasound play an important role in the detection of abnormal fetuses. The detection of single-factor abnormalities in birth defects can not be ignored. During the genetic counseling, the risks should be explained carefully to pregnant women and their families.