Guo Zhenglong, Yang Wenke, Zhao Qiongrui, Zhang Yuwei, Wang Xin, Wang Jinming, Wang Ruili, Hao Bingtao, Liao Shixiu
Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics & National Health Commission Key Laboratory of Birth Defects Prevention, Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Department of Ultrasound, Henan Provincial People's Hospital, Zhengzhou, China.
Front Med (Lausanne). 2025 Apr 2;12:1514504. doi: 10.3389/fmed.2025.1514504. eCollection 2025.
Increased nuchal translucency (NT) thickness measured at 11-14 weeks of gestation in fetuses has been linked to adverse pregnancy outcomes. This study aimed to evaluate pregnancy outcomes in fetuses with NT ≥3.0 mm.
This retrospective analysis included 4,200 singleton pregnancies diagnosed with increased NT thickness (≥3.0 mm) through first-trimester ultrasound screening across 76 hospitals in Henan Province from 2017 to 2021. Follow-up on pregnancy outcomes was completed through telephone interviews and electronic medical records.
Among the 4,200 pregnancies with NT ≥3.0 mm, adverse pregnancy outcomes were observed in 31.5% of the fetuses. These outcomes included elective termination of pregnancy (TOP), spontaneous abortion (SA), threatened abortion (TA), and live birth with malformations. A total of 547 fetuses underwent further examination through karyotype analysis after genetic counseling, revealing that 10.2% were aneuploid, primarily due to Trisomy 21 (7.1%).
The incidence of increased NT in our study was 0.49%, which was associated with chromosomal abnormalities and developmental disorders, leading to an increased risk of adverse pregnancy outcomes. Abnormal ultrasound soft markers, along with NT > 4 mm, may further elevate the risk of adverse pregnancy outcomes. These findings should be taken seriously in the context of further prenatal diagnosis for fetuses with increased NT.
胎儿妊娠11 - 14周时颈部透明带（NT）厚度增加与不良妊娠结局相关。本研究旨在评估NT≥3.0毫米的胎儿的妊娠结局。
这项回顾性分析纳入了2017年至2021年期间河南省76家医院通过孕早期超声筛查诊断为NT厚度增加（≥3.0毫米）的4200例单胎妊娠。通过电话访谈和电子病历完成对妊娠结局的随访。
在4200例NT≥3.0毫米的妊娠中，31.5%的胎儿出现了不良妊娠结局。这些结局包括选择性终止妊娠（TOP）、自然流产（SA）、先兆流产（TA）以及出生时伴有畸形。共有547例胎儿在遗传咨询后通过核型分析进行了进一步检查，结果显示10.2%为非整倍体，主要原因是21三体（7.1%）。
我们研究中NT增加的发生率为0.49%，这与染色体异常和发育障碍相关，导致不良妊娠结局的风险增加。超声软指标异常以及NT>4毫米可能会进一步提高不良妊娠结局的风险。在对NT增加的胎儿进行进一步产前诊断时，应重视这些发现。
