Stoll C, Alembik Y, Dott B, Roth M P, Finck S
Institut de Puériculture, Centre Hospitalier Universitaire, Strasbourg, France.
Prenat Diagn. 1992 Apr;12(4):263-70. doi: 10.1002/pd.1970120405.
Prenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal 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 our region, 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. Only 6.9 per cent of the pregnancies with fetuses with non-chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.
通过胎儿核型分析和超声扫描进行的产前诊断如今在许多国家已成为产前护理的常规部分。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。在我们所在地区，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。患有非染色体异常胎儿的妊娠中，仅有6.9%的妊娠终止。排除染色体异常情况后，超声检查对孤立畸形（仅有一种异常的胎儿）的产前诊断敏感性远低于多发畸形胎儿，分别为15.3%和48.3%。
