Can Fetal Heterotaxy Syndrome Be Diagnosed Through Prenatal Ultrasound in the First Trimester (GA 11+0−13+6 Weeks)?

• DOI: 10.1002/pd.6772
• Publication Date: 2025-03-20T02:00:01Z
• Authors: Biying Huang; Qiumei Wu; Shan Guo; Guorong Lyu; Fa Chen; Min Liu; Hong Ma; Wen Ling; Zongjie Weng
• Keywords: Fetal echocardiography; Ductus venosus

ABSTRACT Objective To investigate the value of prenatal ultrasonography in diagnosis and classification fetal heterotaxy syndrome (HS) first trimester (gestational age 11 +0 −13 +6 weeks). Methods A retrospective analysis data from 31 HS fetuses prenatally diagnosed with HS. Diagnoses were confirmed by follow‐up ultrasound some cases postnatal or autopsy. Data collected on characteristics left atrial isomerism (LAI) right (RAI) trimester, follow up ultrasounds, pregnancies outcomes, autopsy findings, if available. Results In total, 23cases 8 missed during GA weeks ultrasound. The sensitivity, specificity, false positive rate, negative predictive value, examination for 74.19%, 100%, 0, 25.80%, 99.98%, respectively. main common manifestations included abnormal positioning stomach heart umbilical vein (UV) different sides, combined complete atrioventricular septal defect (AVSD), double outlet ventricle (DORV) other CHDs. Compared RAI, LAI pregnancy more prone to bradycardia ductus venous (DV) a‐wave inversion ( p < 0.05). Among cases, only 6 continued, resulting one neonatal death five liveborns a good prognosis. Conclusion Ultrasound performed can be an effective tool diagnosing HS, particularly when significant cardiovascular anomalies are present. However, without complex intracardiac malformations is likely trimester. Most early associated major result termination pregnancies.