Zolotukhina T V, Kuznetsov M I, Kostiuk E V, Kolesnikova T N, Mazurova O L, Matveeva E V, Shilova N V
Vestn Ross Akad Med Nauk. 1992(4):14-20.
The program of the prevention of congenital and hereditary diseases with the aid of prenatal diagnosis includes a complex of different methods: ultrasonography, invasive procedures made at different times of pregnancy, obstetrical monitoring, immunochemical blood tests, fetal cytogenetic analysis, pathological, anatomical, and syndromological studies in abortuses. Emphasis is laid on the use of the data on ultrasound screening of the pregnant and screening of the mother's blood for some factors that form a group of women at a greater genetic risk, who require prenatal diagnosis. The efficacy of the preventive measures can be enhanced with combined use of instrumental, obstetrical and laboratory research methods. The establishment of the correct and early diagnosis may, on the one hand, remove the tension and concern in the family; on the other hand, it may prevent bearing a sick child and provide the married couple with a based genetic counselling about progeny.
超声检查、孕期不同阶段进行的侵入性操作、产科监测、免疫化学血液检测、胎儿细胞遗传学分析、对流产胎儿进行的病理、解剖和综合征学研究。重点在于利用孕妇超声筛查数据以及对母亲血液进行某些因素筛查,以确定一组遗传风险较高的女性群体,她们需要进行产前诊断。综合运用仪器检查、产科和实验室研究方法可提高预防措施的效果。正确且早期的诊断的确立,一方面可以消除家庭中的紧张和担忧;另一方面,可以避免生育患病儿童,并为已婚夫妇提供有关后代的基础遗传咨询。