Chemke J
Isr J Med Sci. 1986 Mar-Apr;22(3-4):207-9.
The prenatal diagnosis of genetic disorders has become one of the most important tools in medical genetics and has changed the face of genetic counseling. Over 100 inherited metabolic diseases, all chromosomal abnormalities and a number of major congenital malformations can already be diagnosed at relatively early stages of fetal development. Various techniques at different stages of pregnancy are presently available. The earliest procedure, using chorionic villus biopsies, can be performed at approximately 8 weeks of gestation; however, the safety and efficacy of this method are not clear. Amniocentesis is performed at 16 weeks of gestation, and analyses of amniotic fluid and amniocytes are still the most commonly used diagnostic procedures to detect genetic disorders in the fetus. Moreover, real-time ultrasonography and fetoscopy permit the detection of a large number of fetal structural abnormalities in the second trimester of pregnancy through fetal blood samples, fetal skin biopsies, and observation of the fetal external anatomy.
遗传性疾病的产前诊断已成为医学遗传学中最重要的工具之一，并改变了遗传咨询的面貌。超过100种遗传性代谢疾病、所有染色体异常以及一些主要的先天性畸形在胎儿发育的相对早期阶段就已能够被诊断出来。目前在孕期的不同阶段有各种技术可供使用。最早的方法是绒毛取样，可在妊娠约8周时进行；然而，该方法的安全性和有效性尚不清楚。羊膜穿刺术在妊娠16周时进行，对羊水和羊膜细胞的分析仍然是检测胎儿遗传性疾病最常用的诊断程序。此外，实时超声检查和胎儿镜检查可以通过采集胎儿血样、进行胎儿皮肤活检以及观察胎儿外部解剖结构，在妊娠中期检测出大量胎儿结构异常。
