Department of Gynecology and Obstetrics, Division of Feto-Maternal Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Department of Obstetrics and Gynaecology, The Royal London Hospital, Barts Health NHS Trust, Women's Health, London, UK.
Arch Gynecol Obstet. 2019 Apr;299(4):933-938. doi: 10.1007/s00404-019-05056-5. Epub 2019 Jan 31.
To examine an unselective population of fetuses with right aortic arch (RAA) and suggest perinatal management. Second, to evaluate the importance and possible implication of fetal MRI in those cases.
Retrospective study of 36 patients with RAA diagnosed prenatally between 2006 and 2017 in a tertiary referral center.
32 fetuses were diagnosed with RAA and 4 with double aortic arch (DAA). 7 (19, 5%) cases had intracardiac abnormalities. Tetralogy of the Fallot was the most frequent one. Other extracardiac malformations were observed in 11/36 (30, 6%). Karyotype was available in 16 (44, 5%) cases. Two had 22q11.2 microdeletion, two trisomy 21, and one 20p12.2 duplication. Two needed surgery for respiratory symptoms. A newborn was identified with epilepsy, Lennox-Gastaud syndrome and Pallister-Killian syndrome postnatally and another one with showed hyperreflexia and premature closer of the fontanelle. Three feticides were performed for pregnancy termination in one case with 22q11 deletion, trisomy 21, and partial agenesis of corpus callosum.
RAA can be detected by fetal echocardiography and it is associated with other cardiac or non-cardiac abnormalities, 22q11 microdeletion, trisomy 21, and other chromosomal abnormalities. karyotyping should be offered in any case of RAA, irrespective of co-existing malformations. Fetal MRI is a promising diagnostic tool for assessment of congenital cardiovascular abnormalities and extracardiac anomalies.
检查一组未经选择的右主动脉弓（RAA）胎儿，并提出围产期管理建议。其次，评估胎儿 MRI 在这些病例中的重要性和可能的影响。
回顾性分析 2006 年至 2017 年期间在三级转诊中心诊断为 RAA 的 36 例胎儿。
32 例胎儿被诊断为 RAA，4 例为双主动脉弓（DAA）。7 例（19.5%）存在心脏内异常。法洛四联症是最常见的一种。其他心脏外畸形在 11/36 例（30.6%）中观察到。16 例（44.5%）有核型。2 例存在 22q11.2 微缺失，2 例存在 21 三体，1 例存在 20p12.2 重复。2 例因呼吸症状需要手术。1 例新生儿出生后被诊断为癫痫、 Lennox-Gastaud 综合征和 Pallister-Killian 综合征，另 1 例出现反射亢进和囟门过早闭合。3 例因 22q11 缺失、21 三体和胼胝体部分发育不全而终止妊娠。
胎儿超声心动图可检测到 RAA，且与其他心脏或非心脏异常、22q11 微缺失、21 三体及其他染色体异常有关。无论是否存在共存畸形，都应在任何 RAA 病例中提供核型分析。胎儿 MRI 是评估先天性心血管异常和心脏外畸形的一种很有前途的诊断工具。
