Leclercq Sandrine, Lebbar Aziza, Grange Gilles, Tsatsaris Vassilis, Le Tessier Dominique, Dupont Jean-Michel
Hopital Cochin-Saint Vincent de Paul, Unité de, Cytogénétique, France.
Prenat Diagn. 2008 Apr;28(4):313-8. doi: 10.1002/pd.1959.
To evaluate the medical and economic performance of three strategies for selecting patients eligible for interphase FISH in the prenatal diagnosis of common aneuploidies.
We evaluated three protocols on the same population that was referred for prenatal diagnosis between June 2001 and December 2006. The number of aneuploidies detected by FISH and the relative cost (reagent and technical staff cost) are reported for each strategy.
2707 women were referred for prenatal diagnosis either because of advanced maternal age over 38 (48%), abnormal maternal serum screening (35%) or prenatal ultrasound anomalies (17%). A total of 4.8% chromosomal anomalies (balanced and unbalanced) were diagnosed after karyotyping. Theoretically, interphase FISH should have detected 79.4% of the unbalanced anomalies. We observed a significant improvement in the trisomy 21 detection by selecting the probes according to the reason for referral. The last protocol adopted, which offers a rapid test to 57% of women undergoing amniocentesis, presents the best aneuploidy detection rate (68% of total aneuploidies, 87% of trisomy 21).
Selecting probes according to medical criteria patients combined with a technical procedure modification allows medico-economic improvement of interphase FISH in routine diagnosis.
评估在常见非整倍体产前诊断中选择适合间期荧光原位杂交（FISH）检测患者的三种策略的医学和经济表现。
我们在2001年6月至2006年12月期间对同一组接受产前诊断的人群评估了三种方案。报告了每种策略通过FISH检测到的非整倍体数量以及相对成本（试剂和技术人员成本）。
2707名女性因高龄产妇（年龄超过38岁，占48%）、孕妇血清筛查异常（占35%）或产前超声异常（占17%）而接受产前诊断。核型分析后共诊断出4.8%的染色体异常（平衡和不平衡）。理论上，间期FISH应能检测出79.4%的不平衡异常。通过根据转诊原因选择探针，我们观察到21三体检测有显著改善。所采用的最后一种方案为57%接受羊膜穿刺术的女性提供了快速检测，其非整倍体检测率最高（占总非整倍体的68%，21三体的87%）。
根据医学标准选择患者的探针并结合技术程序改进，可在常规诊断中实现间期FISH的医学经济改善。
