Stoll C, Dott B, Alembik Y, Roth M P
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
Prenat Diagn. 1995 Sep;15(9):791-800. doi: 10.1002/pd.1970150902.
Prenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In a previous study (Prenat. Diagn., 12, 263-270, 1992), considering the period 1979-1988, we have shown that prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. In 1991 and 1992, the percentage of termination for Down syndrome was 44.4 and 41.9 per cent, respectively. From 1989 to 1992, the detection rate and the specificity of prenatal diagnosis by ultrasonographic examination were improved. The detection rate for isolated malformations (fetuses with only one anomaly) and for multiple malformed children was 26.2 and 66.0 per cent, respectively. The detection rate of congenital anomalies by ultrasonography was variable for the different categories of malformation. A high detection rate was observed for anencephaly (100 per cent) and urinary tract malformation. A low detection rate was seen for cleft lip (17.5 per cent) and limb reduction defects (18.2 per cent).
目前，超声扫描进行的产前诊断在许多国家已成为产前护理的常规组成部分。通过这些检查实际能检测出多少胎儿异常情况呢？我们利用先天性畸形登记册来回答这个问题。在之前一项研究（《产前诊断》，第12卷，第263 - 270页，1992年）中，考虑1979 - 1988年期间，我们发现23.1%的染色体异常胎儿和20.1%的非染色体异常胎儿接受了产前诊断。1991年和1992年，唐氏综合征的终止妊娠率分别为44.4%和41.9%。从1989年到1992年，超声检查产前诊断的检出率和特异性有所提高。孤立畸形（仅有一种异常的胎儿）和多发畸形患儿的检出率分别为26.2%和66.0%。超声检查对不同类型畸形的先天性异常检出率各不相同。无脑儿（100%）和泌尿系统畸形的检出率较高。唇裂（17.5%）和肢体短小缺陷（18.2%）的检出率较低。
