Alfuraih Abdulrahman M, Almajem Bashaier Mansour, Alsolai Amal Abdullah
Radiology and Medical Imaging Department, College of Applied Medical Sciences, Prince Sattam bin Abdulaziz University, Kharj 11942, Saudi Arabia.
Obstetrics and Gynecology Ultrasound Department, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia.
Diagnostics (Basel). 2024 Aug 20;14(16):1811. doi: 10.3390/diagnostics14161811.
Early identification of fetal gender is crucial for managing gender-linked genetic disorders. This study aimed to evaluate the predictive performance of anogenital distance (AGD) and genital tubercle angle (GTA) for fetal sex determination during the first trimester.
A multicenter retrospective cohort study was conducted on 312 fetal cases between 11 and 13 + 6 weeks of gestation from two tertiary hospitals. AGD and GTA measurements were taken from midsagittal plane images using ultrasound, with intra- and inter-reader reproducibility assessed. Binomial logistic regression and ROC curve analysis were employed to determine the diagnostic performance and optimal cutoff points.
AGD had a mean of 7.16 mm in male fetuses and 4.42 mm in female fetuses, with a sensitivity of 88.8%, specificity of 94.4%, and an area under the ROC curve (AUC) of 0.931 (95% CI: 0.899-0.962) using 5.74 mm as a cutoff point. For GTA, the mean was 35.90 degrees in males and 21.57 degrees in females, with a sensitivity of 92%, specificity of 84.7%, and an AUC of 0.932 (95% CI: 0.904-0.961) using 28.32 degrees as a cutoff point. The reproducibility results were excellent for AGD (intra-operator ICC = 0.938, inter-operator ICC = 0.871) and moderate for GTA (intra-operator ICC = 0.895, inter-operator ICC = 0.695).
The findings suggest that AGD and GTA are reliable markers for early fetal sex determination, with AGD showing higher reproducibility. The findings highlight the feasibility and accuracy of these non-invasive sonographic markers and their potential usefulness in guiding timely interventions and enhancing the management of gender-linked genetic conditions.
早期识别胎儿性别对于管理与性别相关的遗传疾病至关重要。本研究旨在评估孕早期肛门生殖器距离(AGD)和生殖结节角(GTA)在确定胎儿性别方面的预测性能。
对两家三级医院312例妊娠11至13 + 6周的胎儿病例进行了一项多中心回顾性队列研究。使用超声从正中矢状面图像测量AGD和GTA,并评估阅片者内和阅片者间的可重复性。采用二项逻辑回归和ROC曲线分析来确定诊断性能和最佳截断点。
男性胎儿的AGD平均为7.16毫米,女性胎儿为4.42毫米,以5.74毫米为截断点时,灵敏度为88.8%,特异性为94.4%,ROC曲线下面积(AUC)为0.931(95%CI:0.899 - 0.962)。对于GTA,男性平均为35.90度,女性为21.57度,以28.32度为截断点时,灵敏度为92%,特异性为84.7%,AUC为0.932(95%CI:0.904 - 0.961)。AGD的可重复性结果极佳(阅片者内ICC = 0.938,阅片者间ICC = 0.871),GTA的可重复性为中等(阅片者内ICC = 0.895,阅片者间ICC = 0.695)。
研究结果表明,AGD和GTA是早期确定胎儿性别的可靠标志物,AGD显示出更高的可重复性。这些发现突出了这些非侵入性超声标志物的可行性和准确性,以及它们在指导及时干预和加强与性别相关遗传疾病管理方面的潜在用途。