遗传性疾病的实验诊断.ppt

谢 谢 ！ * Netherlands Pilot focus on achieving the same performance than Integrated without having to test all women in 2nd Trimester Majority of women (85%) would complete their screening in the 1st Trimester. High risk group would identify 70% of DS (2% of all women would belong to this group) 80% of women would belong to the low risk pregnancy group. 18% of women would fall into medium risk group who would have 2nd T biochemistry to identify 20% of DS. Advantage: DR the same than 1st T but lower FPR (90% and 2.5% respectively) Denmark Michael Christiansen is experimenting with 1st T contingent: biochemistry at 6-10 weeks followed by small % of women for NT. At the moment National Policy is 1st T screening. USA ACOG guidelines suggest that all women who present in 1st T should be offered Step-wise SEquential. The practical approach is not yet clear – depends on 1st trimester cut-off how many women will be offered invasive test (e.g. Genzyme uses 1/100 cut off which means 2% of women will go to CVS) * * * * C50: C49: C45: C44: Cjp: 11223 C50: C49: C45: C44: Cjp: 12212 21313 C50: C49: C45: C44: Cjp: 21121 21313 C50: C49: C45: C44: Cjp: 21121 21313 C50: C49: C45: C44: Cjp: 21121 12212 C50: C49: C45: C44: Cjp: 12212 C50: C49: C45: C44: Cjp: 21313 C50: C49: C45: C44: Cjp: 11223 12212 C50: C49: C45: C44: Cjp: 21313 C50: C49: C45: C44: Cjp: 21313 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 DMD家系分析 1 2 5.8 5.8 2.8 3.4 4.5 4.5 0.9 0.9 0.9 N N N 4.8 4.8 4.8 5 5 5 5.8 5.8 2.8 5.8 4.5 3.4 4.5 4.5 0.9 0.9 0.9 0.9 N N N N