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目的:探讨B超筛查胎儿缺陷与染色体异常的相关性。方法:对照组选取孕12～24周正常胎儿520例,经B超产科软件测量8项生物学指标。实验组选取孕12～24周孕妇4 736例,经B超产科软件测量胎儿8项生物指标,异常者经介入超声进行羊水细胞染色体核型分析。结果:由对照组得出孕12～24周正常胎儿各项指标的正常参考值范围;实验组筛查结构畸形胎儿64例(1.35%)中,59例(92.19%)染色体核型正常,5例(7.81%)染色体核型异常,发现颈项水囊瘤、全前脑畸形合并上肢内翻及心脏畸形这三种类型畸形,超声与染色体检查结果符合率较高。结论:采用超声筛选胎儿染色体异常可行性高。
Objective: To investigate the correlation between B-screening for fetal defects and chromosomal abnormalities. Methods: In the control group, 520 normal fetuses from 12 to 24 weeks old were selected and 8 biological indexes were measured by B ultrasound. In the experimental group, 4 736 pregnant women aged 12-24 weeks were enrolled. Eight fetuses were measured by B-ultrasound, and abnormalities were analyzed by amniotic fluid cell karyotypes by interventional ultrasound. Results: In the control group, the normal reference range of normal fetus from 12 to 24 weeks pregnant was obtained. Among the 64 cases (1.35%) of the fetuses with abnormal fetal structure screening, 59 (92.19%) had normal karyotype, 5 Cases (7.81%) karyotype abnormalities, found neck water tumor, anterior pancreas malformations associated with upper limb varus and heart deformity of these three types of deformity, ultrasound and chromosomal test results with a high rate. Conclusion: It is feasible to screen fetal chromosomal abnormalities by ultrasound.