Prenatal diagnosis and clinical implications of an apparently isolated right aortic arch

Vigneswaran, Trisha V.; Allan, Lindsey D.; Charakida, Marietta; Durward, Andrew; Simpson, John; Nicolaides, Kypros H.; Zidere, Vita

doi:10.1002/pd.5388

Cited by 28 publications

(23 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Most studies detect associated cardiac, noncardiac, and genetic anomalies in a proportion of these cases supporting detailed examination and possible molecular testing. Most also report a 22q11.2 deletion in approximately 5% of those undergoing genetic testing (D'Antonio, Khalil, Zidere, & Carvalho, ; Evans et al, ; Galindo et al, ; O'Mahony, Hutchinson, McGillivray, Nisbet, & Palma‐Dias, ; Peng, Xie, Zheng, Zhou, & Lin, ; Razon et al, ; Vigneswaran et al, ; Wojtowicz et al, ), which is substantially lower than that observed in the post‐natal study (McElhinney, McDonald‐McGinn, et al, ) but consequential nonetheless. Two studies specifically reported on the rare fetal diagnosis of a left‐sided aortic arch with an aberrant right subclavian artery (Ranzini, Hyman, Jamaer, & van Mieghem, ; Rembouskos et al, ).…”

Section: The 22q112 Deletion Syndrome In the Chd Populationmentioning

confidence: 99%

22q11.2 deletion syndrome and congenital heart disease

Goldmuntz

2020

American J of Med Genetics Pt C

View full text Add to dashboard Cite

The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4–6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recurrent infections, neurodevelopmental and psychiatric disorders, and congenital heart disease. Approximately 60–80% of patients have a cardiac malformation most commonly including a subset of conotruncal defects (tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B), conoventricular and/or atrial septal defects, and aortic arch anomalies. Cardiac patients with a 22q11.2 deletion do not generally experience higher mortality upon surgical intervention but suffer more peri‐operative complications than their non‐syndromic counterparts. New guidelines suggest screening for a 22q11.2 deletion in the patient with tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, conoventricular septal defects as well as those with an isolated aortic arch anomaly. Early identification of a 22q11.2 deletion in the neonate or infant when other syndromic features may not be apparent allows for timely parental screening for reproductive counseling and anticipatory evaluation of cardiac and noncardiac features. Screening the at‐risk child or adult allows for important age‐specific clinical, neurodevelopmental, psychiatric, and reproductive issues to be addressed.

show abstract

Section: The 22q112 Deletion Syndrome In the Chd Populationmentioning

confidence: 99%

22q11.2 deletion syndrome and congenital heart disease

Goldmuntz

2020

American J of Med Genetics Pt C

View full text Add to dashboard Cite

show abstract

“…The incidence of associated chromosomal anomalies in cases of iRAA varies among studies, from as high as 28.5% to as low as 0%. In view of this, some authors recommend that invasive prenatal testing for karyotypes and 22q11.2 microdeletion should be offered to all patients with RAA, even in the case of an isolated one, whereas others suggest that the presence of an iRAA may not justify karyotyping. The contradictory evidence confuses prenatal counselling.…”

Section: Introductionmentioning

confidence: 99%

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

Luo

Chen

et al. 2019

Prenatal Diagnosis

View full text Add to dashboard Cite

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.

show abstract

“…Associated ECA were reported only in 4 of the 53 of cases with known neonatal outcome (crude proportion 7.5%), of which none had major anomalies (cleft palate; dolichocephaly; persistent right umbilical vein). Specifically, one had a bilateral ductal arch and a right umbilical vein [ 21 ] another was a DiGeorge syndrome with left pulmonary artery stenosis and cleft palate [ 14 ] and two were dolichocephalic fetuses with dysmorphic features observed at birth (one of the latter had DiGeorge syndrome) [ 20 ].…”

Section: Resultsmentioning

confidence: 99%

“…Some of the previous reports support the association between RDA/RAA and other ICA/ECA or Di George syndrome, [ 12 ] while others fail to describe associated abnormalities and/or chromosomal/genetic syndromes [ 7 ]. These controversial results are probably due both to the rarity of the condition and the differences in study designs and settings (lack of risk stratification in the examined populations and/or different expertise of diagnostic methods) [ 7 , 12 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Postnatal Outcome and Associated Anomalies of Prenatally Diagnosed Right Aortic Arch with Concomitant Right Ductal Arch: A Systematic Review and Meta-Analysis

et al. 2020

View full text Add to dashboard Cite

Right aortic arch presents a reported incidence of 0.1% of the general population; the aim of our study was to evaluate the risk of associated intracardiac (ICA), extracardiac (ECA), or chromosomal abnormalities in fetuses with right aortic arch (RAA) and concomitant right ductal arch (RDA). A systematic review of the literature selected 18 studies including 60 cases of RAA/RDA. A meta-analysis with a random effect model calculated for each outcome the pooled crude proportion of associated abnormal outcomes in cases of RAA/RDA and the pooled proportions and odds ratios in RAA with LDA or RDA. Quality assessment of the included studies was achieved using the NIH quality assessment tool for case series studies. RAA/RDA presents risk of associated conotruncal CHDs of about 30% and risk of 22q11 microdeletion in the region of 1%. Two-thirds of 22q11 microdeletions had concomitant thymic hypoplasia and no other chromosomal defects were described. Risks for ICA, ECA, 22q11 microdeletion, and aberrant left subclavian artery are not substantially different in RAA with right or left arterial duct. RAA increases the risk of associated cardiac defects regardless of laterality of the ductal arch. In isolated RDA/RAA cases, absolute risks of extracardiac associated problems or surgery are rather low, we would therefore recommend reassurance, particularly when the thymus and karyotype are normal.

show abstract

Prenatal diagnosis and clinical implications of an apparently isolated right aortic arch

Cited by 28 publications

References 31 publications

22q11.2 deletion syndrome and congenital heart disease

22q11.2 deletion syndrome and congenital heart disease

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

Postnatal Outcome and Associated Anomalies of Prenatally Diagnosed Right Aortic Arch with Concomitant Right Ductal Arch: A Systematic Review and Meta-Analysis

Contact Info

Product

Resources

About