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目的:了解苏州地区胎儿缺陷发生情况,探讨胎儿缺陷发生的相关因素,为临床遗传咨询和处理提供依据。方法:详细询问272例B超检查发现胎儿异常的夫妇本次妊娠史、职业、生活及工作环境,并行胎儿染色体核型分析等相关检查,部分引产胎儿行尸解病理学检查;对未引产者进行随访。结果:①272例异常胎儿中,最常见的是神经系统畸形,其次是心脏畸形;②57.4%的孕妇有孕早期感冒或家庭装修等高危因素接触史;③缺陷胎儿染色体异常率为13.3%;④35例随访病例中有23例轻度异常者出生后无明显异常表现。结论:①妊娠前后的不良环境因素可能对胎儿缺陷的发生起一定作用;②常规染色体核型分析只能发现小部分胎儿异常的遗传学病因,染色体微小结构畸变或多基因缺陷有待引入进一步的检测方法;③遗传咨询中对某些超声检查轻度异常的胎儿,排除染色体异常后可以建议随访观察。
Objective: To understand the incidence of fetal defects in Suzhou and explore the related factors of fetal defects, providing the basis for clinical genetic counseling and treatment. Methods: 272 cases of fetal abnormalities were examined in detail about the pregnancy history, occupation, living and working environment, parallel fetus chromosome karyotype analysis and other related tests, and some of fetus fetuses were examined by autopsy pathology. Follow-up. Results: ①272 abnormal fetuses were the most common neurological deformities, followed by heart malformations; ②57.4% of pregnant women had exposure history of high risk factors such as colds or home decoration in early pregnancy; ③the abnormality rate of defective fetuses was 13.3%; ④35 cases of follow-up cases, 23 cases of mild abnormalities after birth, no significant abnormalities. Conclusion: (1) The adverse environmental factors before and after pregnancy may play a role in the occurrence of fetal defects; (2) conventional chromosome karyotype analysis can only find a small number of fetal abnormal genetic causes, minor chromosomal aberrations or multiple gene defects to be further tested Methods; ③ Genetic counseling on some mild abnormalities in ultrasound examination of the fetus, excluding chromosomal abnormalities can be recommended follow-up observation.