Bitumba I, Lévy M, Bernard J-P, Ville Y, Salomon L-J
Service de gynécologie obstétrique, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France.
Service de cardiologie pédiatrique, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France.
Gynecol Obstet Fertil Senol. 2019 Oct;47(10):726-731. doi: 10.1016/j.gofs.2019.09.002. Epub 2019 Sep 5.
To investigate prenatal diagnosis characteristics and pregnancy outcomes associated with isolated right aortic arch (RAA).
A retrospective study including fetuses with isolated RAA, managed between January 2010 and February 2018. Cases were identified from the ultrasound databases of the expert pediatric cardiologists, who made the aforementioned diagnosis. All fetuses were examined by a fetal medicine imaging expert to exclude any extracardiac abnormality. A systematic review was performed to assess the prenatal diagnosis and outcomes of fetuses with isolated RAA.
Fifty-six fetuses were diagnosed with an isolated RAA. An isolated double aortic arch (DAA) was diagnosed in one fetus. Mean gestational age at diagnosis was 24 weeks. The sex ratio (boy/girl) was 0.89. No significant abnormality was detected in invasive tests (karyotype and FISH or microarray). Only one fetus was misdiagnosed with isolated RAA. He was the only symptomatic (stridor) newborn baby and was later diagnosed with DAA. Four studies were included in our systematic review representing 115 cases of isolated RAA. One significant chromosomal abnormality was detected: a 22q11 deletion in a newborn baby who had a postnatal finding of a soft palate cleft. There was one major obstetric complication: an intrauterine fetal demise at 41 gestational weeks.
Diagnosis of isolated RAA can be challenging. Invasive tests are to be discussed. The diagnosis of isolated RAA should not change obstetric monitoring. Nevertheless, an echocardiography should be performed systematically in these new newborn babies within their first month of life.
探讨孤立性右位主动脉弓（RAA）的产前诊断特征及妊娠结局。
一项回顾性研究，纳入2010年1月至2018年2月间管理的孤立性RAA胎儿。病例从做出上述诊断的儿科心脏病专家的超声数据库中识别。所有胎儿均由胎儿医学影像专家检查以排除任何心外异常。进行系统评价以评估孤立性RAA胎儿的产前诊断和结局。
56例胎儿被诊断为孤立性RAA。1例胎儿被诊断为孤立性双主动脉弓（DAA）。诊断时的平均孕周为24周。男女比例为0.89。侵入性检查（核型和FISH或微阵列）未检测到明显异常。只有1例胎儿被误诊为孤立性RAA。他是唯一有症状（喘鸣）的新生儿，后来被诊断为DAA。我们的系统评价纳入了4项研究，代表115例孤立性RAA病例。检测到1例明显的染色体异常：1例新生儿22q11缺失，其出生后发现软腭裂。有1例主要产科并发症：孕41周时宫内胎儿死亡。
孤立性RAA的诊断可能具有挑战性。应讨论侵入性检查。孤立性RAA的诊断不应改变产科监测。然而，这些新生儿在出生后第一个月内应系统地进行超声心动图检查。
