The significance of a prenatal diagnosis of right aortic arch

Wójtowicz, Anna; Respondek-Liberska, Maria; Słodki, Maciej; Kordjalik, Paulina; Płużańska, Joanna; Knafel, Anna; Huras, Hubert

doi:10.1002/pd.5020

Cited by 20 publications

(27 citation statements)

References 28 publications

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“…Our finding of a minimum 4% incidence of 22q11 microdeletion in cases of apparently isolated RAA is lower to that of three previous comparable studies with a combined total of 130 cases of apparently isolated RAA; 102/130 (78%) had invasive prenatal testing, and 10% had 22q11 microdeletion . In contrast, six studies with a combined total of 145 cases of apparently isolated RAA reported a low uptake of invasive testing, and the overall incidence of chromosomal/genetic anomalies was only 6/145 (4%) . It is likely that the low rate of prenatal invasive testing in these studies may have underestimated the incidence of chromosomal/genetic anomalies.…”

Section: Discussioncontrasting

confidence: 83%

“…In relation to prenatal management, there is contradictory evidence concerning the association with chromosomal and genetic abnormalities and therefore the option for invasive diagnostic testing. For example, in relation to the association with 22q11 microdeletion in some studies, the incidence was as high as 15% and in others as low as 0% . In relation to postnatal management, there is no clear evidence‐based pathway despite the fact that a RAA with a left arterial duct represents an anatomical vascular ring that encircles the trachea and esophagus.…”

Section: Introductionmentioning

confidence: 99%

“…For example, in relation to the association with 22q11 microdeletion in some studies, the incidence was as high as 15% and in others as low as 0%. 1,[3][4][5][6][7][8][9][10] In relation to postnatal management, there is no clear evidence-based pathway despite the fact that a RAA with a left arterial duct represents an anatomical vascular ring that encircles the trachea and esophagus.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2018

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What is already known about the topic? Right aortic arch (RAA) has an association with extracardiac and chromosomal anomalies. RAA with left arterial duct can form a vascular ring. In children with RAA, there is poor correlation of symptoms and tracheal compression. What does this study add? The majority of prenatal cases of an isolated RAA in our cohort are identified during routine screening. Microdeletion of chromosome 22q11 is the most common genetic association with an apparently isolated RAA, it is seen in a minimum of 7% of cases. A chromosomal or genetic anomaly is found in half of fetuses with RAA and increased nuchal translucency thickness (NT) and in one‐fifth of those with normal NT.

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Section: Discussioncontrasting

confidence: 83%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2018

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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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“…Also the number and the subject of publication in a digital database-PubMed, suggests the steady development of prenatal cardiology and different types of registries (Fig.2) at the global level, European and Polish level as well [14][15][16][17][18][19][20][21][22][23][24][25][26][27][28] . Although our National Registry is not perfect one and would need some improvement, still it is a unique organizational "tool" as well as prenatal cardiac defects collection.…”

Section: Discussionmentioning

confidence: 99%

Selected data from the Polish National Prenatal Cardiac Pathology Registry from the year 2016

Kordjalik

Tobota

Respondek‐Liberska³

2017

Prenatal Cardiology

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Introduction: Analysis have been subjected to evaluate standard data reports from the Polish National Prenatal Cardiac Pathology Registry from the year 2016, compared to previous years. Material and methods: The methodology of this work was comparison of the data from previous years that have been published in the Prenatal Cardiology and records generated in www. orpkp.pl from the year 2016. The total number of records entered in the Registry in the year 2016 was n=774. Results: Top 10 most common prenatal CHD in 2016 were such as follow: HLHS, AVSD, VSD, d-TGA, TOF, AvS, muscular VSD, Aberrant origin R subclavian artery, RAA, CoA. In the centers Lodz and Krakow the most common prenatal congenital heart defects were severe CHD requiring surgery in 1 st month of life. In the contrast, in Warsaw the first place was taken by a “critical heart defects” regardless whether cardiac surgery was planned in first week (contemporary definition of prenatal critical heart defects) or first month - contemporary definition of severe planned heart defects of postnatal life. Conclusion: The fact that in 2016 most common cause of referrals to targeted the fetal chocardiography was abnormal, large vessels view and not the abnormal 4 chamber view of the heart, suggests more and better training of hysicians performing the screening or basic study of fetal heart in Poland.

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The significance of a prenatal diagnosis of right aortic arch

Cited by 20 publications

References 28 publications

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

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

22q11.2 deletion syndrome and congenital heart disease

Selected data from the Polish National Prenatal Cardiac Pathology Registry from the year 2016

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