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产前筛查是预防出生缺陷的第2道关键防线,必要的产前常规筛查是杜绝出生缺陷的手段。采用血清学对唐氏综合征妊娠早期筛查和妊娠中期联合筛查,神经管畸形筛查,分子生物技术对地中海贫血的筛查及确诊,产前超声对胎儿体表、内脏器官及骨骼畸形等先天性疾病筛查,从中发现高风险人群。并以生物遗传因素技术为主导,选择适时的产前诊断,提高对胎儿先天性缺陷和遗传性疾病的检出率。加强对高风险人群的质控与管理,对不良妊娠结局提出预见性临床干预及实施新的管理模式,降低出生缺陷,提高人口素质。
Prenatal screening is the key line of defense to prevent birth defects, the necessary prenatal screening is the means to eliminate birth defects. Using serology for Down’s syndrome early pregnancy screening and mid-pregnancy screening, screening for neural tube defects, molecular biotechnology screening and diagnosis of thalassemia, prenatal ultrasound on fetal body surface, internal organs and skeletal deformities Other congenital diseases screening, from which high-risk groups were found. And biological genetic factors as the leading technology, the choice of timely prenatal diagnosis, improve fetal detection of congenital defects and genetic diseases. Strengthen quality control and management of high-risk groups, put forward prospective clinical interventions on adverse pregnancy outcomes and implement new management models to reduce birth defects and improve the quality of the population.