Loading…

Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report

The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions,...

Full description

Saved in:
Bibliographic Details
Published in:Medicina (Kaunas, Lithuania) Lithuania), 2023, Vol.59 (10)
Main Authors: Vlădăreanu, Radu, Maier, Călina, Tocariu, Raluca, Șerban, Marcela, Brătilă, Elvira
Format: Report
Language:English
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites
container_end_page
container_issue 10
container_start_page
container_title Medicina (Kaunas, Lithuania)
container_volume 59
creator Vlădăreanu, Radu
Maier, Călina
Tocariu, Raluca
Șerban, Marcela
Brătilă, Elvira
description The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.
doi_str_mv 10.3390/medicina59101838
format report
fullrecord <record><control><sourceid>proquest</sourceid><recordid>TN_cdi_proquest_miscellaneous_2883585112</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2883585112</sourcerecordid><originalsourceid>FETCH-proquest_miscellaneous_28835851123</originalsourceid><addsrcrecordid>eNqVzLtOwzAUgGELCYly2RnPyECLLwk4bFFDBQNShRBrdZSctkaOnfo4oL4Bj00FvADTv_z6hLhUcmZMJW966lzrApaVksoaeyQm6raw00oVxYk4ZX6X0ujyTk_E15LS4czooXG4CZEdA4YOnjHghnoKGeIaEObIBJ8ub-EpZEppHDJ1UMeUXQt1arfXsBx9HwOmPbyh_yBo9jx4ZIc_oNY7pWYaGvKUXQz3UP-iLzQclHNxvEbPdPHXM3G1eHidP06HFHcjcV71jlvyHgPFkVfaWlPaUilt_rF-A4d6Wyo</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>report</recordtype><pqid>2883585112</pqid></control><display><type>report</type><title>Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report</title><source>ProQuest - Publicly Available Content Database</source><source>PubMed Central</source><creator>Vlădăreanu, Radu ; Maier, Călina ; Tocariu, Raluca ; Șerban, Marcela ; Brătilă, Elvira</creator><creatorcontrib>Vlădăreanu, Radu ; Maier, Călina ; Tocariu, Raluca ; Șerban, Marcela ; Brătilă, Elvira</creatorcontrib><description>The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.</description><identifier>EISSN: 1648-9144</identifier><identifier>DOI: 10.3390/medicina59101838</identifier><language>eng</language><ispartof>Medicina (Kaunas, Lithuania), 2023, Vol.59 (10)</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>780,784,4490,27925,37013</link.rule.ids></links><search><creatorcontrib>Vlădăreanu, Radu</creatorcontrib><creatorcontrib>Maier, Călina</creatorcontrib><creatorcontrib>Tocariu, Raluca</creatorcontrib><creatorcontrib>Șerban, Marcela</creatorcontrib><creatorcontrib>Brătilă, Elvira</creatorcontrib><title>Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report</title><title>Medicina (Kaunas, Lithuania)</title><description>The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.</description><issn>1648-9144</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2023</creationdate><recordtype>report</recordtype><recordid>eNqVzLtOwzAUgGELCYly2RnPyECLLwk4bFFDBQNShRBrdZSctkaOnfo4oL4Bj00FvADTv_z6hLhUcmZMJW966lzrApaVksoaeyQm6raw00oVxYk4ZX6X0ujyTk_E15LS4czooXG4CZEdA4YOnjHghnoKGeIaEObIBJ8ub-EpZEppHDJ1UMeUXQt1arfXsBx9HwOmPbyh_yBo9jx4ZIc_oNY7pWYaGvKUXQz3UP-iLzQclHNxvEbPdPHXM3G1eHidP06HFHcjcV71jlvyHgPFkVfaWlPaUilt_rF-A4d6Wyo</recordid><startdate>20231016</startdate><enddate>20231016</enddate><creator>Vlădăreanu, Radu</creator><creator>Maier, Călina</creator><creator>Tocariu, Raluca</creator><creator>Șerban, Marcela</creator><creator>Brătilă, Elvira</creator><scope>7X8</scope></search><sort><creationdate>20231016</creationdate><title>Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report</title><author>Vlădăreanu, Radu ; Maier, Călina ; Tocariu, Raluca ; Șerban, Marcela ; Brătilă, Elvira</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-proquest_miscellaneous_28835851123</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2023</creationdate><toplevel>online_resources</toplevel><creatorcontrib>Vlădăreanu, Radu</creatorcontrib><creatorcontrib>Maier, Călina</creatorcontrib><creatorcontrib>Tocariu, Raluca</creatorcontrib><creatorcontrib>Șerban, Marcela</creatorcontrib><creatorcontrib>Brătilă, Elvira</creatorcontrib><collection>MEDLINE - Academic</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vlădăreanu, Radu</au><au>Maier, Călina</au><au>Tocariu, Raluca</au><au>Șerban, Marcela</au><au>Brătilă, Elvira</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report</atitle><jtitle>Medicina (Kaunas, Lithuania)</jtitle><date>2023-10-16</date><risdate>2023</risdate><volume>59</volume><issue>10</issue><eissn>1648-9144</eissn><abstract>The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.</abstract><doi>10.3390/medicina59101838</doi></addata></record>
fulltext fulltext
identifier EISSN: 1648-9144
ispartof Medicina (Kaunas, Lithuania), 2023, Vol.59 (10)
issn 1648-9144
language eng
recordid cdi_proquest_miscellaneous_2883585112
source ProQuest - Publicly Available Content Database; PubMed Central
title Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-25T13%3A35%3A26IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest&rft_val_fmt=info:ofi/fmt:kev:mtx:book&rft.genre=unknown&rft.atitle=Perinatal%20Diagnosis%20and%20Management%20of%20a%20Case%20with%20Interrupted%20Aortic%20Arch,%20Pulmonary%20Valve%20Dysplasia%20and%2022q11.2%20Deletion:%20A%20Case%20Report&rft.jtitle=Medicina%20(Kaunas,%20Lithuania)&rft.au=Vl%C4%83d%C4%83reanu,%20Radu&rft.date=2023-10-16&rft.volume=59&rft.issue=10&rft.eissn=1648-9144&rft_id=info:doi/10.3390/medicina59101838&rft_dat=%3Cproquest%3E2883585112%3C/proquest%3E%3Cgrp_id%3Ecdi_FETCH-proquest_miscellaneous_28835851123%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2883585112&rft_id=info:pmid/&rfr_iscdi=true