Abbott Mary-Alice, Benn Peter
Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT 06106, USA.
Expert Rev Mol Diagn. 2002 Nov;2(6):605-15. doi: 10.1586/14737159.2.6.605.
Down's syndrome is a common cause of birth defects and mental retardation. Prenatal screening and diagnosis of Down's syndrome is important to any pregnant woman interested in the health of her fetus and is of particular concern to the growing number of advanced maternal age women who are at increased risk of an affected pregnancy. Prenatal screening tests, performed in the first and second trimester, are based on maternal age, serum tests and fetal ultrasound. Definitive diagnosis requires amniocentesis or chorionic villus sampling. Hopefully, these invasive tests can, one day, be replaced with safer methods of obtaining fetal cells. Molecular genetic techniques are augmenting traditional chromosome analysis, broadening the range of identifiable genetic disorders and allowing earlier results.
唐氏综合征是出生缺陷和智力发育迟缓的常见原因。对任何关心胎儿健康的孕妇来说，唐氏综合征的产前筛查和诊断都很重要，对于越来越多怀孕风险增加的高龄产妇而言，这更是备受关注。在孕早期和孕中期进行的产前筛查测试基于孕妇年龄、血清检测和胎儿超声检查。确诊需要进行羊膜穿刺术或绒毛取样。有望有一天，这些侵入性检测能被更安全的获取胎儿细胞的方法所取代。分子遗传学技术正在增强传统的染色体分析，扩大可识别的遗传疾病范围，并能更早得出结果。
