产前诊断和唐氏综合症:第2部分。可能的影响

Jonathan Steeleand
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引用次数: 0

摘要

产前诊断对唐氏综合症出生频率的影响是通过最近的文献回顾考虑。讨论了目前和可能的未来影响,并简要提到了产前诊断的一些心理方面。注意到羊膜穿刺术的不完全吸收;在最近的英国研究中,合格女性的比例从20%到40%不等;探讨了其原因。考虑到报告的变化在特定年龄的发病率和他们的关系引入和继续使用产前诊断给出。过去曾有发病率降低5%至18%的报告。报告指出,根据结合年龄和生化筛选方法的研究所预测的最大未来影响;检测到60%的受影响胎儿在理论上是可能的。然而,引入这种方案的问题可能会阻碍这种有效的筛选方法被广泛采用。在这种情况下,在可预见的未来,通过产前诊断来预防超过15%的唐氏综合症患儿似乎不太可能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
PRENATAL DIAGNOSIS AND DOWN SYNDROME: PART 2. POSSIBLE EFFECTS
The effects of prenatal diagnosis on the birth frequency of Down syndrome are considered through a review of recent literature. Both present and possible future effects are discussed and brief mention of some psychological aspects of prenatal diagnosis is made. The incomplete uptake of amniocentesis is noted; ranging from 20% to over 40% of eligible women in recent British studies; reasons for this are explored. A consideration of reported changes in age specific incidence and their relationship to the introduction and continued use of prenatal diagnosis is given. Reductions in incidence of between 5% and 18% have been reported in the past. The maximum future effects, as predicted by studies using age in conjunction with biochemical screening methods, are noted; detection of up to 60% of affected foetuses is theoretically possible. However, problems of introducing this type of scheme may prevent such effective screening methods being widely adopted. This being the case, it seems unlikely that more than 15% of births affected by Down syndrome will be prevented by prenatal diagnosis in the foreseeable future.
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