Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology. Hospital, Universitario Puerta de Hierro Majadahonda, Calle Joaquín Rodrigo, 2. Majadahonda, 28222, Madrid, Spain.
Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain.
Arch Gynecol Obstet. 2022 Jun;305(6):1439-1444. doi: 10.1007/s00404-021-06221-5. Epub 2021 Sep 22.
Aberrant right subclavian artery is an anatomical variation with a prevalence of around 0.5-1.5% of the general population, being more frequently found among people with chromosomopathies, especially, trisomy 21. Despite being an anatomical finding, and thus, constant through the whole pregnancy, its value in the diagnosis of aneuploidies during the first trimester of pregnancy has been little studied. The aim of this study is to evaluate the reliability of the first-trimester ultrasound in the diagnosis of ARSA and its utility in the early diagnosis of aneuploidies.
This was a descriptive, observational, cross-sectional study that included all fetuses with sonographic diagnosis of ARSA between 2011 and 2018.
There were 257 cases of ARSA diagnosed. The first-trimester ultrasound showed the following results in the detection of ARSA: sensitivity of 68% (CI 95% 60.8%-74.5%), specificity of 99.9% (CI 95% 99.9%-100%), positive predictive value of 93.7% (CI 95% 88.1%-96.8%), and negative predictive value of 99.6% (CI 95% 99.5%-99.7%). Due to the presence of ARSA, two cases of trisomy 21, that would have been missed in the first trimester, were diagnosed, using ARSA as a soft marker and modifying the risk obtained by the combined screening as part of the genetic sonogram of the first trimester.
ARSA visualization during the first-trimester ultrasound is trustworthy and it can improve the detection of trisomy 21 in some cases of aneuploidy missed during the combined screening of the first trimester.
右位主动脉弓是一种解剖学变异，其在普通人群中的发生率约为 0.5-1.5%，在染色体病患者中更为常见，尤其是 21 三体。尽管这是一种解剖学发现，并且在整个妊娠过程中保持不变，但它在妊娠早期诊断非整倍体中的价值尚未得到充分研究。本研究旨在评估早孕期超声在诊断右位主动脉弓中的可靠性及其在早期诊断非整倍体中的应用价值。
这是一项描述性、观察性、横断面研究，纳入了 2011 年至 2018 年间所有经超声诊断为右位主动脉弓的胎儿。
共诊断出 257 例右位主动脉弓。早孕期超声在诊断右位主动脉弓时的结果如下：敏感性为 68%（95%CI 60.8%-74.5%），特异性为 99.9%（95%CI 99.9%-100%），阳性预测值为 93.7%（95%CI 88.1%-96.8%），阴性预测值为 99.6%（95%CI 99.5%-99.7%）。由于存在右位主动脉弓，通过将其作为软指标，并修改早孕期联合筛查获得的风险，从而诊断出两例原本会在早孕期漏诊的 21 三体。
早孕期超声对右位主动脉弓的显示是可靠的，它可以提高某些在早孕期联合筛查中漏诊的非整倍体的检出率。
