Incidence of chromosomal anomalies in fetuses with isolated right aortic arch: A meta‐analysis

Abstract

Objective Right aortic arch (RAA) can be associated with chromosomal anomalies. However, the incidence of chromosomal anomalies when RAA is isolated (iRAA), ie, not associated with intracardiac anomalies, varies between different studies (0%‐28.5%). We have performed a meta‐analysis to allow a more accurate prenatal counselling. Methods We searched PubMed, Embase, and Web of Science for articles related to chromosomal anomalies among iRAA fetuses until April 2019. A total of 22 relevant studies, including 670 fetuses, were selected in the final meta‐analysis. Results The results revealed that the overall rates of chromosomal anomalies and 22q11.2 deletion in iRAA fetuses were 7.5% (95% confidence interval [CI], 4.7%‐10.8%) and 4.3% (95% CI, 2.6%‐6.4%), respectively, while the rates were lower in iRAA without extracardiac anomalies, 4.7% (95% CI, 1.1%‐10.8%) and 2.4% (95% CI, 0.5%‐5.7%). The rate of chromosomal or copy number variants including 22q11.2 deletion identified by chromosomal microarray analysis (CMA) in iRAA fetuses was 8.2% (95% CI, 5.0%‐12.1%) and 3.7% (95% CI, 1.7%‐6.6%), respectively, compared with 5.1% (95% CI, 2.5%‐8.4%) and 2.4% (95% CI, 0.7%‐5.1%) identified by traditional karyotyping. Conclusions A considerable proportion of iRAA cases have associated chromosomal anomalies and prevalence of associated 22q11.2 deletion, and CMA is recommended if invasive prenatal testing is performed.

Prenatal findings and pregnancy outcome in fetuses with right and double aortic arch. A 10-year experience at a tertiary center

“…In agreement with previous recommendations [ 50 , 51 ] and based on our results, we recommend genetic testing for 22q11.2 deletion specifically or by means of aCGH for all pregnancies diagnosed with a RAA (isolated or not), even if some authors do not consider this investigation in isolated cases [ 52 ]. Some authors consider iRAA to even have a higher risk for chromosomal anomalies [ 18 ], but this approach cannot be validated by the results of our study.…”

Az aortaív-anomáliák klinikai jelentősége a magzattól a felnőttkorig

“…Ha ez sikerül, akkor a "viszonylag" könynyen felismerhető aortaív-fejlődési rendellenességek felhívhatják a figyelmet súlyosabb kóros anomáliák keresésére, megszabva a magzat sorsát, a terhesség kihordását, a szülés helyének megválasztását, perinatalis (sürgős szívsebészi beavatkozás szükségessége!) ellátását [7][8][9][10]. Ezért fontos annak pontos tisztázása, hogy a vascularis gyűrű mely formái milyen életkorban okoznak panaszokat, igényelnek műtéti beavatkozást, és mikor szükséges esetleg sürgős újszülöttkori műtét.…”