2021~2022年四川省产前诊断自贡分中心1296例胎儿超声筛查诊断异常情况分析

Analysis of Abnormal Fetal Ultrasound Screening Diagnoses in 1296 Casesat the Prenatal Diagnosis Center in Zigong, Sichuan Province, 2021~2022

摘要: 目的：探讨中孕期超声诊断胎儿结构畸形的价值并分析漏诊和误诊的原因。方法：选取我院产前诊断中心自2021年1月至2022年12月期间进行系统性产前超声诊断的36,282例孕妇作为研究对象，观察畸形检出情况及妊娠结局，并按照系统解剖进行分类，计算其超声诊断的准确性、灵敏度和特异度；分析符合胎儿畸形超声诊断的孕妇相关高危风险因素，并通过产前诊断追踪随访系统对漏诊和误诊情况进行总结。结果：1) 本研究共检出胎儿畸形1296例，其中心脏及血管畸形438例，神经系统畸形230例，胸肺畸形21例，腹部异常21例，消化系统畸形68例，泌尿系统畸形313例，肢体及脊柱畸形37例，颜面畸形127例，腹腔积液及全身水肿4例，宫内发育受限13例，双耳异常1例，背部皮肤稍强回声1例，脐带囊肿2例，双胎儿生长发育不一致1例，无心畸胎序列征1例，皮下囊性占位1例，复杂畸形17例，检出率为3.57%。2) 中孕期胎儿超声诊断的符合率95.32%，灵敏度96.21%，特异性95.87%。3) 胎儿解剖结构畸形的发生率与多种因素具有明显的相关性。其中，孕妇高龄、病毒感染孕期、孕期接触有害物质、遗传因素、营养因素、不良生活方式以及服用可能致畸的药物都是导致胎儿畸形的主要风险之一。4) 经随访(电话随访691例，查阅病例605例，随访失败33例)，其中引产129例，活产1167例，1204例符合诊断，48例漏诊(引产11例，活产37例)，11例误诊(均为活产)。结论：妊娠中期在产前诊断中心进行系统性超声诊断检出胎儿结构畸形异常，这对于减少新生儿缺陷率、提高人口素质并满足社会需求具有至关重要的作用，是建设健康中国的一项高效手段。

Abstract: Objective: To explore the value of mid-pregnancy ultrasound diagnosis of fetal structural abnormal-ities and analyze the reasons for missed and misdiagnoses. Methods: A total of 36,282 pregnant women who underwent systematic prenatal ultrasound diagnosis at our prenatal diagnosis center from January 2021 to December 2022 were selected as the study subjects. Fetal abnormalities were observed, categorized based on systematic anatomy, and the accuracy, sensitivity, and specificity of ultrasound diagnosis were calculated. High-risk factors related to fetal malformations diagnosed by ultrasound were analyzed, and missed and misdiagnoses were summarized using the prenatal di-agnostic tracking and follow-up system. Results: 1) In this study, 1296 cases of fetal abnormalities were detected, including 438 cases of heart and vascular malformations, 230 cases of neurological malformations, 21 cases of chest and lung abnormalities, 21 cases of abdominal abnormalities, 68 cases of digestive system malformations, 313 cases of urinary system malformations, 37 cases of limb and spine malformations, 127 cases of facial malformations, 4 cases of abdominal fluid accu-mulation and generalized edema, 13 cases of intrauterine growth restriction, 1 case of bilateral ear abnormalities, 1 case of slightly hyperechoic lesion on the back skin, 2 cases of umbilical cord cysts, 1 case of discordant growth in twin fetuses, 1 case of absence of fetal cardiac abnormalities se-quence, 1 case of subcutaneous cystic mass, and 17 cases of complex malformations. The detection rate was 3.57%. 2) The concordance rate of mid-pregnancy fetal ultrasound diagnosis was 95.32%, with a sensitivity of 96.21% and specificity of 95.87%. 3) The occurrence of fetal anatomical mal-formations was significantly correlated with multiple factors, including maternal advanced age, vi-ral infections during pregnancy, exposure to harmful substances during pregnancy, genetic factors, nutritional factors, unhealthy lifestyles, and the use of potentially teratogenic drugs. 4) Through follow-up (phone follow-up for 691 cases, case review for 605 cases, 33 cases of unsuccessful fol-low-up), 129 cases resulted in induced abortions, and 1167 cases resulted in live births. Among them, 1204 cases were consistent with the diagnosis, 48 cases were missed diagnoses (11 induced abortions, 37 live births), and 11 cases were misdiagnosed (all live births). Conclusion: Systematic ultrasound diagnosis of fetal structural abnormalities during mid-pregnancy at prenatal diagnosis centers plays a crucial role in reducing the incidence of neonatal defects, improving population quality, and meeting societal needs. It is an efficient means to build a healthy China.