Nicolaides K H, Brizot M L, Snijders R J
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London, UK.
Br J Obstet Gynaecol. 1994 Sep;101(9):782-6. doi: 10.1111/j.1471-0528.1994.tb11946.x.
To investigate a new method of screening for fetal trisomies on the basis of maternal age and fetal nuchal translucency thickness at 10 to 13 weeks of gestation.
A prospective screening study.
Tertiary referral centre.
One thousand two hundred and seventy-three women with singleton pregnancies undergoing first trimester fetal karyotyping because of advanced maternal age, parental anxiety, or family history of a chromosomal abnormality in the absence of balanced parental translocation.
Estimates of maternal age-related risks for fetal trisomies 21, 18 and 13 at this gestation were used to derive the expected incidence of these trisomies in fetuses with nuchal translucency < 3 mm, 3 mm and > 3 mm, respectively, and the ratio of observed to expected number of cases was calculated.
The nuchal translucency was > or = 3 mm in 86% of the trisomic and in 4.5% of the chromosomally normal fetuses. The observed number of trisomies in the 1185 cases with nuchal translucency < 3 mm was approximately five times less than the number expected on the basis of maternal age. In the groups with translucency of 3 mm (n = 52) and > 3 mm (n = 36), the observed numbers of trisomies were approximately five times and 24 times higher than the respective numbers expected on the basis of maternal age.
The risk of fetal trisomy can be derived by combining maternal age and fetal nuchal translucency thickness at 10 to 13 weeks of gestation. It is predicted that for a false positive rate of 5%, the sensitivity of the new method of screening would be at least 85%, which compares favourably with the respective 20 to 30% and 50 to 60% of screening based on maternal age alone or the combination of maternal age with maternal serum biochemistry.
探讨一种基于孕妇年龄及孕10至13周胎儿颈部半透明带厚度筛查胎儿三体综合征的新方法。
一项前瞻性筛查研究。
三级转诊中心。
1273名单胎妊娠女性，因孕妇年龄偏大、父母焦虑或有染色体异常家族史（无平衡的父母染色体易位）而在孕早期接受胎儿染色体核型分析。
利用该孕周孕妇年龄相关的胎儿21、18和13三体综合征风险估计值，分别得出颈部半透明带<3mm、3mm和>3mm的胎儿中这些三体综合征的预期发病率，并计算观察到的病例数与预期病例数的比值。
86%的三体胎儿及4.5%的染色体正常胎儿颈部半透明带≥3mm。在1185例颈部半透明带<3mm的病例中，观察到的三体病例数比基于孕妇年龄预期的病例数少约五倍。在半透明带为3mm（n = 52）和>3mm（n = 36）的组中，观察到的三体病例数分别比基于孕妇年龄预期的病例数高约五倍和24倍。
结合孕妇年龄及孕10至13周胎儿颈部半透明带厚度可得出胎儿三体综合征的风险。预计对于5%的假阳性率，新的筛查方法的灵敏度至少为85%，这优于仅基于孕妇年龄或孕妇年龄与孕妇血清生化指标联合筛查时分别为20%至30%和50%至60%的灵敏度。
