Detection Rate of Trisomy 21 in Fetuses with Isolated and Non-Isolated Aberrant Right Subclavian Artery

2013 ◽  
Vol 34 (3) ◽  
pp. 140-145 ◽  
Author(s):  
Aytul Corbacioglu Esmer ◽  
Ahmet Gul ◽  
Aslı Nehir ◽  
Atil Yuksel ◽  
Ozlem Dural ◽  
...  
Keyword(s):  
Subclavian Artery ◽  
Trisomy 21 ◽  
Detection Rate ◽  
Aberrant Right Subclavian Artery

P01.01: Aberrant right subclavian artery (ARSA) in fetuses with trisomy 21

2009 ◽  
Vol 34 (S1) ◽  
pp. 177-177 ◽  
Author(s):  
R. Chaoui ◽  
A. Sarut Lopez ◽  
A. Bergann ◽  
K. S. Heling
Keyword(s):  
Subclavian Artery ◽  
Trisomy 21 ◽  
Aberrant Right Subclavian Artery

OP15.03: Isolated aberrant right subclavian artery in low risk population: is it really a Trisomy 21 marker?

2014 ◽  
Vol 44 (S1) ◽  
pp. 97-98
Author(s):  
A. Fervienza ◽  
M. Bennasar ◽  
O. Gómez ◽  
F. Crispi ◽  
N. Masoller ◽  
...  
Keyword(s):  
Subclavian Artery ◽  
Trisomy 21 ◽  
Low Risk ◽  
Aberrant Right Subclavian Artery ◽  
Risk Population

scholarly journals P25.02: Isolated aberrant right subclavian artery: a marker of trisomy 21

2012 ◽  
Vol 40 (S1) ◽  
pp. 263-264
Author(s):  
E. Gomez Montes ◽  
I. Herraiz ◽  
J. M. Martinez-Moratalla Valcarcel ◽  
A. Galindo
Keyword(s):  
Subclavian Artery ◽  
Trisomy 21 ◽  
Aberrant Right Subclavian Artery

It's time to include the assessment of the aberrant right subclavian artery as screening test on ultrasound examination at 18–21 weeks of gestation

2018 ◽  
Author(s):  
M.V. Medvedev, A.Yu. Blinov, N.A. Altynnik et all
Keyword(s):  
Risk Factors ◽  
Subclavian Artery ◽  
Gestational Age ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Ultrasound Examination ◽  
Genetic Diagnosis ◽  
Invasive Procedure ◽  
Aberrant Right Subclavian Artery ◽  
Increased Risk

Aberrant right subclavian artery (ARSA) is the most common embryologic abnormality of the aortic arch. 3973 fetuses were examined by ultrasound at 12–34 weeks of gestation and 34 fetuses with ARSA (mean gestational age: 20.2 weeks) was identified in our centre. ARSA was assessed in the axial plane on the level of three vessels and trachea view. ARSA was an isolated finding in 19 (55.9%) fetuses and non-isolated in 15 (44.1 %) fetuses. 6 (17.6 %) of these of 34 were aneuploidies: Trisomy 21 was diagnosed in 5 fetuses, Trisomy 18 in 1 fetus. 22q11 microdeletion was detected in 1 fetus. No cases with chromosomal abnormalities were detected in all 19 fetuses with isolated ARSA. Isolated ARSA does not seem to be associated with a significantly increased risk of aneuploidy. When ARSA is identified a detailed anatomy scan should be recommended. An invasive procedure with genetic diagnosis should be discussed when additional ultrasound abnormalities or risk factors for aneuploidy are found. Prenatal ultrasound diagnosis of ARSA based on previously published cases are discussed.

scholarly journals The associtation between aberrant right subclavian artery and trisomy 21 in a tertiary center in Turkey

2020 ◽  
Vol 91 (8) ◽  
pp. 460-464
Author(s):  
Mete Sucu ◽  
Mehmet Özsürmeli ◽  
Erol Arslan ◽  
Cansun Demir ◽  
Cüneyt Evrüke
Keyword(s):  
Subclavian Artery ◽  
Trisomy 21 ◽  
Aberrant Right Subclavian Artery ◽  
Tertiary Center

scholarly journals Aberrant right subclavian artery as soft marker in the diagnosis of trisomy 21 during the first trimester of pregnancy

2021 ◽  
Author(s):  
Cristina Martínez-Payo ◽  
Elena Suanzes ◽  
Ana Gómez-Manrique ◽  
Alexandra Arranz ◽  
Tirso Pérez-Medina
Keyword(s):  
Subclavian Artery ◽  
Predictive Value ◽  
Trisomy 21 ◽  
Anatomical Variation ◽  
First Trimester ◽  
Aberrant Right Subclavian Artery ◽  
Cross Sectional ◽  
First Trimester Of Pregnancy ◽  
Soft Marker ◽  
First Trimester Ultrasound

Abstract Purpose 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. Methods This was a descriptive, observational, cross-sectional study that included all fetuses with sonographic diagnosis of ARSA between 2011 and 2018. Results 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. Conclusions 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.

scholarly journals Study on the views and methods of ultrasonic screening and diagnosis for abnormal aortic arch in infants

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Xinjian He ◽  
Jiaoyang Chen ◽  
Gaoyang Li
Keyword(s):  
Diagnostic Accuracy ◽  
Aortic Arch ◽  
Subclavian Artery ◽  
Coarctation Of The Aorta ◽  
Double Aortic Arch ◽  
Aberrant Right Subclavian Artery ◽  
Coincidence Rate ◽  
Aortic Arch Anomalies ◽  
Screening Sensitivity ◽  
Axis View

Abstract Background The purpose of this study was to explore echocardiographic views and methods of aortic arch anomalies in infants, so as to improve the screening sensitivity and diagnostic accuracy. Methods 140 children with abnormal aortic arch diagnosed by ultrasound in Children’s Hospital of Hebei Province from January 2014 to December 2019 were selected for retrospective analysis. All were confirmed by surgery or/and computerized tomography angiography. Series of views for aortic arch (the three-vessel and tracheal view, aortic arch short axis view, left aortic arch long axis view, aortic arch long axis continuous scan views) were performed in all cases on the basis of the routine views of echocardiography. The screening sensitivity and diagnostic coincidence rate of different echocardiographic views for aortic arch anomalies were analyzed. Results Among the 140 infants, right aortic arch were 21 cases (6/21 were accompanied by mirror branch and 15/21 were with aberrant left subclavian artery). Left aortic arch with aberrant right subclavian artery were 2 cases, and double aortic arch with both arches open were 20 cases. Double aortic arch with left arch atresia were 2 cases, and atresia of the proximal aorta with aortic arch dysplasia was 1 case. Coarctation of the aorta were 67 cases, and interruption of aortic arch were 27 cases. All the patients were correctly diagnosed except that 2 infants with interruption of aortic arch were incorrectly diagnosed as coarctation of the aorta, and 1 infant with coarctation of the aorta was misdiagnosed as interruption of aortic arch by echocardiography. The screening sensitivities of four views and four-view combination for abnormal aortic arch were 99.3, 73.6, 87.1, 99.3, and 100%; the diagnostic coincidence rates were 85.7, 27.1,66.4, 95.0%, and 97.9% respectively. On the basis of traditional left aortic long axis view, other three views had their own advantages. The screening sensitivity and diagnostic coincidence rate of four-view combination were significantly improved. Conclusions The three-vessel trachea view is simple and feasible, which is suitable for screening abnormal aortic arch. The combination of four views conduces to improving screening sensitivity and diagnostic accuracy of aortic arch abnormalities.

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