NT联合NIPT、早期唐氏筛查及四维超声检查在胎儿染色体疾病筛查中的应用研究

An Applied Study of NT Combined with NIPT, Early Down’s Screening, and Four-Dimensional Ultrasonographyin the Screening of Fetal Chromosomal Disorders

摘要: 目的：本研究旨在探讨NT联合NIPT、早期唐氏筛查及四维超声检查在胎儿染色体疾病筛查中的临床应用价值，评估不同检测方法单独及联合使用时的检出率和诊断效能，为优化胎儿染色体异常的早期筛查策略提供依据。方法：回顾性分析2018年1月至2024年10月于青海红十字医院行产前诊断的532例孕妇的临床数据，所有病例均行NT、NIPT、早期唐氏筛查、四维超声检查及羊水穿刺。分别计算各检测方法单独及联合筛查的阳性检出率、灵敏度、特异度、阳性预测值、阴性预测值及准确率，同时对多种检测联合方案的诊断效能进行ROC曲线分析。结果：两组孕妇的年龄、孕周、孕前BMI、居住地与文化程度均无统计学差异(P > 0.05)。单独检测中，相比NT、早期唐氏筛查及四维超声检查，NIPT具有较高的阳性检出率、灵敏度、特异度、阳性预测值、阴性预测值、准确率及AUC (P < 0.05)。NT联合检测显著提高了筛查效能，相比单独筛查、NT联合早期唐氏筛查和NT联合四维超声检查，NT联合NIPT具有较高的灵敏度、特异度、阳性预测值、阴性预测值、准确率及AUC (P < 0.05)。结论：NT联合NIPT、早期唐氏筛查及四维超声可显著提高单独筛查的检出率和诊断准确性，尤其是NT + NIPT联合方案在胎儿染色体异常筛查中具有较高的临床价值，为优化高危孕妇的筛查策略提供了科学依据。

Abstract: Objective: The aim of this study was to investigate the clinical application value of NT combined with NIPT, early Down’s screening, and four-dimensional ultrasonography in the screening of fetal chromosomal disorders, to assess the detection rate and diagnostic efficacy of different testing methods when used individually and in combination, and to provide a basis for optimising the early screening strategy for fetal chromosomal abnormalities. Methods: Clinical data of 532 pregnant women who underwent prenatal diagnosis in Qinghai Red Cross Hospital from January 2018 to October 2024 were retrospectively analysed, and all cases underwent NT, NIPT, early Down’s syndrome screening, four-dimensional ultrasonography, and amniocentesis. The positive detection rate, sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of each test alone and in combination were calculated, and the diagnostic efficacy of the combination of multiple tests was analysed by ROC curve. Results: There were no statistically significant differences in age, gestational week, pre-pregnancy BMI, place of residence, and education between the two groups (P > 0.05). Among individual tests, compared with NT, early Down’s screening, and 4D ultrasound, NIPT alone had a higher positive detection rate, sensitivity, specificity, positive predictive value, negative predictive value, accuracy, and AUC (P < 0.05). Compared to individual screening, NT combined with early Down syndrome screening, and NT combined with four dimensional ultrasound examination, NT combined with NIPT had higher sensitivity, specificity, positive predictive value, negative predictive value, accuracy, and AUC (P < 0.05). Conclusion: NT combined with NIPT, early Down’s syndrome screening, and four-dimensional ultrasound can significantly improve the detection rate and diagnostic accuracy of individual screening, especially the combined NT + NIPT program has high clinical value in the screening of fetal chromosomal abnormalities, which provides a scientific basis for optimizing the screening strategy for high-risk pregnant women.