Cell‐free fetal DNA (cfDNA) has been increasingly incorporated into prenatal aneuploidy screening paradigms given its relatively high sensitivity for Down syndrome (DS). This is often the case when fetal ultrasonographic soft markers are present, such as the relatively common echogenic intracardiac focus (EIF). We sought to evaluate the cost‐effectiveness of a screening strategy that included cfDNA screening when an isolated EIF is identified in a low‐risk population with prior aneuploidy screening.

中文翻译：

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孤立的心内回声病灶和无细胞胎儿 DNA 的作用：成本效益分析。

鉴于无细胞胎儿 DNA (cfDNA) 对唐氏综合症 (DS) 的敏感性相对较高，因此越来越多地将其纳入产前非整倍体筛查范例。当存在胎儿超声软标记时，通常就是这种情况，例如相对常见的心内回声病灶 (EIF)。当在先前进行非整倍体筛查的低风险人群中发现孤立的 EIF 时，我们试图评估包括 cfDNA 筛查在内的筛查策略的成本效益。