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A comparison of first trimester prenatal screening strategies for Down Syndrome with maternal age and preferences considerations.
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-08-13 , DOI: 10.1002/pd.5811
Akane B Fujimoto 1 , Turgay Ayer 1 , Aaron B Caughey 2 , Pinar Keskinocak 1
Affiliation  

Screening for Down Syndrome (DS) includes traditional ultrasound and serum‐based and cell‐free DNA (cfDNA) testing. While cfDNA testing usually has superior performance, it is significantly more costly. As an alternative, a hybrid strategy combining contingent cfDNA with traditional testing is recommended when universal cfDNA screening is not feasible. This study compares the efficacy of traditional, contingent cfDNA, and universal cfDNA screening strategies at various cut‐offs based on maternal age and parents' preferences, which may improve testing outcomes and patients' satisfaction.

中文翻译:

唐氏综合症孕早期产前筛查策略与母亲年龄和偏好考虑因素的比较。

唐氏综合症 (DS) 筛查包括传统的超声和基于血清和无细胞 DNA (cfDNA) 的检测。虽然 cfDNA 测试通常具有卓越的性能,但其成本要高得多。作为替代方案,当通用 cfDNA 筛查不可行时,建议将临时 cfDNA 与传统检测相结合的混合策略。本研究根据母亲的年龄和父母的偏好,比较了传统、偶然 cfDNA 和通用 cfDNA 筛查策略在不同临界值下的功效,这可能会提高检测结果和患者满意度。
更新日期:2020-08-13
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