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1、aortic arch 主动脉弓 brachiocephalic trunk 头臂干 common carotid artery 颈总动脉 subclavian 锁骨下的 ductus arteriosus 动脉导管 aberrant 异常的，迷乱的,Words,RSA：right subclavian artery ARSA: aberrant right subclavian artery,Corbacioglu Esmer A, Gul A, Nehir A, et al. Detection Rate of Trisomy 21 in Fetuses with Isolated and
2、 Non-Isolated Aberrant Right Subclavian Artery.J. Fetal Diagnosis & Therapy, 2013, 34(3):140-145.,Postnatally, ARSA has been found in about 3% of children and adults with congenital heart defects (CHD) and in 0.1% of the population without cardiac defect. The prevalence of ARSA has been identified b
3、y autopsy in 1-2% of normal individuals, whereas it has been found to be more common in cases of Down syndrome, with prevalences ranging from 2.9 to 100%.,Chao et al. reported for the first time the identification of ARSA in fetuses with Down syndrome. Since then, other prenatal studies have been ca
4、rried out, with a divergence of results. Although different research groups demonstrated a higher prevalence of ARSA in Down-syndrome fetuses at present the exact quantification of this phenomenon remains unclear.,Objectives,To estimate the prevalence of aberrant right subclavian artery (ARSA) in fe
5、tuses with Down syndrome. To assess the prevalence of ARSA in euploid fetuses, the feasibility of ultrasound evaluation of the right subclavian artery (RSA) in the first and second trimesters of pregnancy, the performance of ARSA in screeening for trisomy 21 and its association with other abnormalit
6、ies.,Methods,A systematic search of the literature from inception until July 2014 was performed in PubMed, EMBASE and MEDLINE to identify relevant articles. The search included the following medical subjects heading terms alone or in different combinations: Down syndrome, trisomy 21, ARSA, aberrant
7、right subclavian artery, ultraound and prenatal diagnosis.,Results,1. Prevalence of ARSA,Down syndrome fetuses : 23.6%(95%CI,19.4-27.9%) euploids : 1.02%(95%CI,0.86-1.10%),Six studies within the systematic review presented all information required to calculated detection rate(DR) and false-positive
8、rate(FPR) for ARSA in screening for trisomy 21.,2. Meta-analysis,Analyses of pooled DR and pooled FPR with the six included studies demonstrated respective values of 0.26 and 0.011.,Ultrasound evaluation of the RSA course and origin in the first and second trimesters of pregnancy was feasible in 85%
9、 and 98% of cases (first and second trimester, respectively) and it was directly related to sonographic experience and fetal crown-rump lenghth and inversely related to maternal body mass index.,3. Feasibility of ARSA,Chaoui R , Rake A , Heling K S. Aortic arch with four vessels: aberrant right subc
10、lavian arteryJ. Ultrasound in Obstetrics & Gynecology, 2008, 31(1):115-117.,In more than 20% of fetuses with ARSA there was an association with other abnormalities but ARSA seemed to be an independent marker of trisomy 21.,4. ARSA and associated anomalies,Corbacioglu Esmer A, Gul A, Nehir A, et al.
11、Detection Rate of Trisomy 21 in Fetuses with Isolated and Non-Isolated Aberrant Right Subclavian Artery.J. Fetal Diagnosis & Therapy, 2013, 34(3):140-145.,Conclusions,ARSA appears to be a clinically useful prenatal ultrasound marker of Down syndrome. Addtional testing when ARSA is diagnosed should i
12、nvolve evaluation of all risk factors by applying a mathematical model.,Conclusions,There is insufficient evidence to recommend fetal karyotyping in cases with isolated ARSA. If the background risk is higher or additional markers are present, full fetal karyotyping is advisable, including analysis for 22q11 microdeletion.,Thank you,