Wong H B
Singapore Med J. 1989 Jun;30(3):294-6.
Fetal abnormalities may be strongly inherited e.g. in the Mendelian diseases. Some of the abnormalities are due to detectable chromosome anomalies, while the majority of fetal abnormalities arise as a result of the interaction of polygenes and environmental factors. The process of fetal abnormality diagnosis depends on a careful taking of the history and its evaluation. The clinical examination of the fetus by real time ultrasound, if relevant and finally special investigations which are to some extent invasive such as chorionic villus sampling, amniocentesis and fetal blood sampling. The fetal tissue so obtained may be assessed for their genetic structure by DNA recombinant methods, or the disease may be diagnosed by analysis of the genic products. The commoner hereditary diseases probing fetal abnormalities in S.E. Asia are described and the diagnosis of these diseases discussed. Fetal diagnosis, at the moment, is still labour intensive and costly and must be applied in a discriminate fashion.
胎儿异常可能具有很强的遗传性，例如在孟德尔疾病中。一些异常是由于可检测到的染色体异常，而大多数胎儿异常是多基因与环境因素相互作用的结果。胎儿异常的诊断过程取决于仔细的病史采集及其评估。通过实时超声对胎儿进行临床检查（如适用），最后进行一些在一定程度上具有侵入性的特殊检查，如绒毛取样、羊膜穿刺术和胎儿血液取样。如此获得的胎儿组织可通过DNA重组方法评估其遗传结构，或者通过对基因产物的分析来诊断疾病。本文描述了东南亚地区常见的探查胎儿异常的遗传性疾病，并讨论了这些疾病的诊断。目前，胎儿诊断仍然劳动强度大且成本高，必须以有区别的方式应用。
