Increased nuchal translucency (NT) on first trimester ultrasound poses a diagnostic and prognostic dilemma. Given association with chromosomal changes and other structural anomalies, an isolated increased NT is an indication to pursue genetic diagnosis. Early diagnosis may aid decisions for pregnancy management as a chromosomal abnormality is identified in 30% of cases.

中文翻译：

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增加颈部半透明：高级测序是答案吗？小评论

妊娠早期超声检查中增加的颈项透明层 (NT) 构成了诊断和预后的两难境地。鉴于与染色体变化和其他结构异常有关，孤立的 NT 增加是进行基因诊断的指征。早期诊断可能有助于决定妊娠管理，因为在 30% 的病例中发现了染色体异常。