Reproductive genetic screening has introduced the possibility for pregnant women to learn, during the pregnancy or sometimes earlier, about the likelihood of their baby being affected with certain genetic conditions. As medicine progresses, the options afforded by this early information have expanded. This has led to a shifting paradigm in prenatal screening, wherein the early knowledge is seen as useful not solely for its inherent value to the pregnant woman, but also as enabling an expansion of conditions whose identification may allow early intervention and clinical impact. This article discusses this paradigm against the backdrop of prenatal genetic screening that is available today.

中文翻译：

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信息的生殖遗传筛查：不断发展的范式？

生殖基因筛查使孕妇有可能在怀孕期间或有时更早地了解其婴儿受到某些遗传条件影响的可能性。随着医学的进步，这些早期信息提供的选择已经扩大。这导致了产前筛查范式的转变，其中早期知识被视为有用，不仅因为其对孕妇的内在价值，而且还有助于扩大其识别可能允许早期干预和临床影响的条件。本文在当今可用的产前基因筛查的背景下讨论了这一范式。