Feng Chuansheng, Wang Mohan, Ji Yizhen, Xu Yasong, Sun Shiyu, Sun Li, Wu Qichang
Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, 361000, People's Republic of China.
Int J Gen Med. 2025 Aug 27;18:4837-4849. doi: 10.2147/IJGM.S535375. eCollection 2025.
To evaluate diagnostic value of prenatal ultrasound in classifying fetal congenital heart disease (CHD) and to verify its diagnostic accuracy by comparing its results with postnatal pathological findings.
This retrospective study analyzed 372 pregnant women with fetal CHD, detected by ultrasound, who underwent interventional prenatal diagnosis. Prenatal CHD cases were classified at three levels. Pathological and anatomical examinations of CHD fetuses were performed in 305 pregnant women who terminated pregnancies; results were compared to those of prenatal ultrasonography.
At first classification level, complex type accounted for 37.6% (140/372), predominated by double outlet right ventricle (DORV); severe 36.6% (136/372), represented by tetralogy of Fallot (TOF); and simple 25.8% (96/372), commonly ventricular septal defect (VSD). At second classification level, incidence of isolated was higher than that of syndromic [55.9% (212/372) vs 42.2% (160/372), <0.05]. Facial dysplasia 24.2% (90/372) and skeletal system malformations 12.4% (46/372) were common. Incidence of simple CHD did not vary between isolated and syndromic [OR=1.017, 95% CI (0.636,1.626), =0.945]. In contrast, incidence of severe [OR=2.126, 95% CI (1.366, 3.310), <0.001] was high in isolated and that of complex [OR=0.478, 95% CI (0.312, 0.732), <0.001] was high in syndromic. At third classification level, valvular disease accounted for 57.3% (213/372), and conotruncal defects (CTDs) 57.0% (212/372), were more prevalent in congenital cardiovascular anomalies. Incidences of VSD 70.4% (150/213) were high in all valvular diseases, with combined intracardiac and extracardiac malformations being 58% (87/150) and 42.7% (64/150), respectively. Among CTDs, TOF 25.5% (54/212) was common. Prenatal ultrasound and postnatal pathology revealed 92.5% (282/305) coincidence rate in CHD diagnoses.
Three-level classification method enables a comprehensive analysis of prenatal diagnosis and prognosis for fetal CHD, facilitating timely decision-making in clinical settings. Prenatal ultrasound plays an essential role in CHD diagnosis, facilitating implementation of clinical interventions tailored at halting this menace.
评估产前超声对胎儿先天性心脏病（CHD）的分类诊断价值，并通过与产后病理结果比较验证其诊断准确性。
本回顾性研究分析了372例经超声检测出胎儿患有CHD且接受介入性产前诊断的孕妇。产前CHD病例分为三个级别。对305例终止妊娠的CHD胎儿进行了病理和解剖检查；将结果与产前超声检查结果进行比较。
在第一分类级别中，复杂型占37.6%（140/372），以右心室双出口（DORV）为主；重症型占36.6%（136/372），以法洛四联症（TOF）为代表；简单型占25.8%（96/372），常见为室间隔缺损（VSD）。在第二分类级别中，孤立型的发生率高于综合征型[55.9%（212/372）对42.2%（160/372），<0.05]。面部发育异常占24.2%（90/372），骨骼系统畸形占12.4%（46/372）较为较为较为常见。孤立型和综合征型中简单CHD的发生率无差异[比值比（OR）=1.17，95%置信区间（CI）（0.636，1.626），P=0.945]。相比之下，孤立型中重症型的发生率较高[OR=2.126，95%CI（1.366，3.310），<0.001]，而综合征型中复杂型的发生率较高[OR=0.478，95%CI（0.312，0.732），<0.001]。在第三分类级别中，瓣膜病占57.3%（213/372），圆锥干畸形（CTD）占57.0%（212/372），在先天性心血管异常中更为常见。在所有瓣膜病中，VSD的发生率为70.4%（150/213）较高，合并心内和心外畸形的分别为58%（87/150）和42.7%（64/150）。在CTD中，TOF占25.5%（54/212）常见。产前超声与产后病理在CHD诊断中的符合率为92.5%（282/305）。
三级分类方法能够对胎儿CHD的产前诊断和预后进行全面分析，有助于临床及时决策。产前超声在CHD诊断中起着至关重要的作用，有助于实施针对性的临床干预措施以应对这一威胁。
