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目前有三种诊断工具(羊膜穿刺术,超声及胎儿镜)可用以估价先天性畸形,单基因遗传异常及染色体异常等疾病(共约3,000种)。羊膜穿刺是在妊娠14～16周中抽取羊水,并利用羊水或胎儿细胞作诊断。这对测定染色体异常,大多数神经管缺损及80种以上生化紊乱很有用处,但其缺点是:(1)在羊水及其细胞中缺少许多单基因遗传异常的表现;(2)大量(90%)无生命胎儿细胞存在于标本中,(3)培养胎儿细胞需要较长时间。实时及B型灰阶超声仪在探测中枢神经、心脏、
There are currently three diagnostic tools (amniocentesis, sonography, and fetoscopy) that can be used to estimate diseases such as congenital malformations, single gene abnormalities and chromosomal abnormalities (about 3,000 in total). Amniocentesis is the extraction of amniotic fluid 14 to 16 weeks of gestation, and the use of amniotic fluid or fetal cells for diagnosis. This is useful for the determination of chromosomal abnormalities, most of the neural tube defects and more than 80 biochemical disorders, but the disadvantages are: (1) the lack of many manifestations of single-gene abnormalities in amniotic fluid and its cells; (2) a large number of %) Inanimate fetal cells are present in the specimen, (3) Fetal cells are cultured for a long time. Real-time and B-type gray-scale ultrasound system in detecting central nervous system, heart,