Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome

Ruan, Peng; Xie, Hong‐Ning; Zheng, Jin; Zhou, Yi; Lin, Min

doi:10.1002/pd.5015

Cited by 32 publications

(22 citation statements)

References 18 publications

(43 reference statements)

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“…Given the selective nature of our data, we did not comment on the incidence of RAA, but the prevalence of CVR was 82%. The most frequent forms of CVR were RAA/LPDA/ALSA and DAA, which is consistent with previous reports [13][14][15] . We found one case of RAA with ALIA and one with ALSA origin obstruction, both of which have been reported previously to be rare [16][17][18][19] .…”

Section: Discussionsupporting

confidence: 93%

“…Considering all 55 pregnancies, including the 10 excluded which did not have postnatal assessment of AA anatomy, karyotype was abnormal in five (9%), which is consistent with values reported previously. Duplication of 11p15.1 in a fetus with RAA was described for the first time in this study, while other copy number imbalances have been reported previously. XYY karyotype associated with CVR has been described previously in one case.…”

Section: Discussionsupporting

confidence: 60%

“…Extracardiac anomalies occurred in 2% of fetuses in our study. In previous reports, the incidence ranges between 15% and 40%. Anal atresia has been reported sporadically, while esophageal atresia is the most frequent extracardiac anomaly reported.…”

Section: Discussionmentioning

confidence: 98%

“…In the pathology series of Knight and Edwards 22 , the most frequent RAA variant was MI with LADA, comprising almost 65% of cases, with RDA comprising 30% and LPDA 5%. Therefore, association of RAA with conotruncal defects should prompt exploration of a LADA, although it might be difficult to visualize because of inadequate acoustic windows, diminutive dimensions, tortuosity or even absence 10,13,29 . Even though we could visualize LADA directly on fetal echocardiography in only three of the five cases with postnatally confirmed LADA, the absence of either V-or U-shaped appearance in all five fetuses suggests that this can be considered as a fetal indicator of LADA.…”

Section: Association With Chdmentioning

confidence: 99%

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Prenatal echocardiographic assessment of right aortic arch

Campanale

Pasquini

Santangelo

et al. 2019

Ultrasound in Obstet & Gyne

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We conclude that "V-shaped" appearance only means that the transverse AA and DA run together on the same side of the thorax (trachea) and "U-shaped" appearance is always the sign of a CVR. Among CVR, RAA/LPDA/MI is more frequent than previously described. Finally, "RAA forming CVR" is usually not associated with complex CHD, as opposed to "RAA not forming CVR". This article is protected by copyright. All rights reserved.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 60%

Section: Discussionmentioning

confidence: 98%

Section: Association With Chdmentioning

confidence: 99%

See 2 more Smart Citations

Prenatal echocardiographic assessment of right aortic arch

Campanale

Pasquini

Santangelo

et al. 2019

Ultrasound in Obstet & Gyne

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“…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

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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.

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

Luo

Chen

et al. 2019

Prenatal Diagnosis

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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.

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Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome

Abstract: A right aortic arch is associated with 22q11.2 deletion syndrome in approximately 5% of cases, and, therefore, prenatal testing, preferably using CMA, should be offered. © 2017 John Wiley & Sons, Ltd.

Cited by 32 publications

References 18 publications

Prenatal echocardiographic assessment of right aortic arch

Prenatal echocardiographic assessment of right aortic arch

22q11.2 deletion syndrome and congenital heart disease

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

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