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目的探讨血清学产前筛查、B超筛查对检出性染色体异常疾病的意义与遗传咨询的伦理学思考。方法回顾性分析长沙市产前诊断中心1646例羊水和脐血产前诊断孕妇的染色体结果,总结并分析性染色体异常与血清学产前筛查、B超筛查指标异常的相关性。结果共检出染色体异常胎儿73例,其中性染色体异常20例,占27.4%;共检出染色体多态51例,其中大Y和小Y共23例,占45.1%。结论 B超筛查与血清学产前筛查对胎儿性染色体异常的检出有重要价值,尤其是孕早中期B超筛查对检出Turner综合征有特殊意义。产前诊断性染色体异常的胎儿的遗传咨询面临着伦理学思考。
Objective To explore the significance of serological prenatal screening and B-screening ethics in the detection of genetic abnormalities and genetic counseling. Methods A retrospective analysis of 1646 cases of prenatal diagnosis of amniotic fluid and umbilical cord blood in pregnant women in Changsha prenatal diagnosis center chromosome results were summarized and analyzed the relationship between sex chromosome abnormalities and serological prenatal screening, B-screening abnormalities. Results A total of 73 cases of chromosomal abnormalities were detected, of which 20 cases were chromosomal abnormalities (27.4%). A total of 51 chromosome polymorphisms were detected, of which 23 cases were large Y and small Y, accounting for 45.1%. Conclusion B-ultrasonography screening and serological prenatal screening of fetal chromosomal abnormalities detection of great value, especially in early pregnancy metaphase B screening Turner syndrome detection of special significance. Genetic counseling of fetuses with prenatal diagnostic chromosomal abnormalities is faced with ethical thinking.