Boué A, Muller F
Inserm U 73 Château de Longchamp, Paris, France.
Pediatrie. 1991;46(6-7):527-32.
The main indications for cytogenetic prenatal diagnosis have been based on pregnancies with an increased risk of chromosomal anomaly. Advanced maternal age has been the most important criterion and presently 60% of women of 38 yr and over undergo prenatal diagnosis. Fetal malformations detected by ultrasound resulted in the selection of a group in which approximately 10% chromosomal anomalies were detected. An effort has been made to describe sonographic signs indicative of Down's syndrome. Maternal serum biochemical markers constitute another approach for screening. Human chorionic gonadotropin is the most discriminant test. Combining maternal and hCG cut-off levels, it is possible to detect approximately 70% of trisomy 21% in women aged between 30-38 yr.
细胞遗传学产前诊断的主要指征基于染色体异常风险增加的妊娠情况。高龄产妇一直是最重要的标准，目前38岁及以上的女性中有60%接受产前诊断。超声检测出的胎儿畸形导致了一个群体的选择，其中大约10%检测出染色体异常。人们一直在努力描述提示唐氏综合征的超声征象。孕妇血清生化标志物是另一种筛查方法。人绒毛膜促性腺激素是最具鉴别力的检测指标。结合孕妇和人绒毛膜促性腺激素的临界值水平，可以在30至38岁的女性中检测出约70%的21三体综合征。
