Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This study shows how a patient-friendly first trimester screening for both chromosomal and structural fetal anomalies in only two outpatient visits can be provided. Genotype-first approach assures not only the earliest diagnosis of trisomy 21 (the most prevalent chromosome aberration), but also completion of the screening at 12–14 weeks. To ensure proper management and avoid unnecessary anxiety abnormal NIPT different from trisomy 21, 18 and 13 should be referred for genetic counseling.

中文翻译：

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通过NIPT和胎儿异常扫描对患者进行的友好的孕早期综​​合筛查

可以通过孕早期胎儿异常扫描来诊断许多主要的胎儿结构异常。NIPT可以准确检测母体血浆cfDNA中的非整倍性和较大的染色体畸变。这项研究表明，如何仅在两次门诊就诊时就可以对染色体和结构性胎儿异常进行患者友好的孕早期筛查。基因型优先方法不仅可以确保最早诊断三体性21（最普遍的染色体畸变），而且可以确保在12-14周内完成筛查。为了确保妥善处理并避免不必要的焦虑，应将与21三，三十八和三三体不同的NIPT异常用于遗传咨询。