Sher Carron, Romano-Zelekha Orly, Green Manfred S, Shohat Tamy
Institute of Medical Genetics, Asaf Harofeh Medical Center, Zerifin, Israel.
Am J Med Genet A. 2003 Jul 30;120A(3):418-22. doi: 10.1002/ajmg.a.20047.
The number of prenatal genetic tests that are being offered to women is constantly increasing. However, there is little national data as to who is performing the tests and the reasons for doing or not doing so. This study evaluated the proportion of Jewish women in Israel who perform the various prenatal genetic tests and the factors affecting the performance of these tests. It was found that 60.9% of the women performed the triple test, 50.8% of women older than 35 years performed amniocentesis, while 63.3 and 24.3% of women performed Tay-Sachs and fragile-X carrier testing respectively. Ninety-six percent of the secular women compared to only 6.7% of the ultrareligious women performed the triple test. It was also found that94.4% of the secular women, 36.4% of the religious, and none of the ultrareligious women older than 35 years performed amniocentesis. In the stepwise regression analysis, being secular, having a higher income, fewer children, and being of Ashkenazi origin remained significant factors in determining performance of Tay-Sachs carrier testing. As regards fragile-X carrier testing, being secular, having fewer than four children, and having a higher income and a supplementary medical insurance remained significant factors. The main reason reported by the women for not performing amniocentesis or the triple test was for religious or moral grounds (53.3 and 67% respectively). The main reason given for not performing Tay-Sachs or fragile-X testing was that they were not referred for the tests (76 and 82% respectively). Consideration should be given to providing first trimester prenatal diagnosis to the ultrareligious group, including state subsidized fragile-X testing and educating the primary care givers about the importance of prenatal genetic testing. The information from the present study is vital for the planning of an equitable prenatal genetic service and provides guidelines for the implementation of such services in other countries.
提供给女性的产前基因检测数量在不断增加。然而，关于谁在进行检测以及进行或不进行检测的原因，全国范围内的数据很少。本研究评估了以色列犹太女性进行各种产前基因检测的比例以及影响这些检测实施的因素。结果发现，60.9%的女性进行了三联检测，35岁以上女性中有50.8%进行了羊膜穿刺术，而分别有63.3%和24.3%的女性进行了泰-萨克斯病和脆性X携带者检测。96%的世俗女性进行了三联检测，而极端正统派女性中只有6.7%进行了该项检测。还发现，94.4%的世俗女性、36.4%的宗教女性以及35岁以上的极端正统派女性中无人进行羊膜穿刺术。在逐步回归分析中，世俗身份、收入较高、子女较少以及具有阿什肯纳兹血统仍然是决定泰-萨克斯病携带者检测实施情况的重要因素。至于脆性X携带者检测，世俗身份、子女少于四个、收入较高以及拥有补充医疗保险仍然是重要因素。女性报告不进行羊膜穿刺术或三联检测的主要原因是宗教或道德原因（分别为53.3%和67%）。不进行泰-萨克斯病或脆性X检测的主要原因是未被转诊进行检测（分别为76%和82%）。应考虑为极端正统派群体提供孕早期产前诊断，包括国家补贴脆性X检测，并对初级护理人员进行产前基因检测重要性的教育。本研究所得信息对于规划公平的产前基因服务至关重要，并为其他国家实施此类服务提供了指导方针。
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