Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective Analysis
The 22q11.2 deletion syndrome (22q11.2 DS) is known as the most common microdeletion syndrome. Due to its variable clinical phenotype, prenatal diagnosis can be challenging. The aim of this retrospective study was to evaluate the clinical course and pregnancy outcome of cases with prenatally diagnos...
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MDPI AG
2023-07-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/13/13/2244 |
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| author | Chiara Paternostro Stephanie Springer Gregor Kasprian Gülen Yerlikaya-Schatten Theresa Reischer |
| author_facet | Chiara Paternostro Stephanie Springer Gregor Kasprian Gülen Yerlikaya-Schatten Theresa Reischer |
| author_sort | Chiara Paternostro |
| collection | DOAJ |
| description | The 22q11.2 deletion syndrome (22q11.2 DS) is known as the most common microdeletion syndrome. Due to its variable clinical phenotype, prenatal diagnosis can be challenging. The aim of this retrospective study was to evaluate the clinical course and pregnancy outcome of cases with prenatally diagnosed 22q11.2 deletion syndrome (DS) as well as to evaluate the role of prenatal magnetic resonance imaging (MRI) and postmortem examination. In total, 21 cases who underwent prenatal ultrasound examination and pregnancy care at the Department of Obstetrics and Gynecology at the Medical University of Vienna between 2012 and 2022 were included. The majority of the cases were genetically diagnosed using fluorescent in situ hybridization (FISH). The median gestational age (GA) at genetic diagnosis was 23.0 weeks (IQR 21.4–24.8 weeks). CHDs were detected in all fetuses and the most common extracardiac manifestation was thymus hypo/aplasia followed by genitourinary anomalies. Prenatal magnetic resonance imaging (MRI) revealed additional diagnostic information in three of ten cases. Overall, 14 patients opted for drug-induced TOP, of which 9 cases had a feticide prior to the induction of labor. The majority of craniofacial malformations were only detected by autopsy. In conclusion, the majority of cases prenatally diagnosed with 22q11.2 DS had an absent or hypoplastic thymus noted antenatally in addition to the detected CHD, and almost half of the cases had another extracardiac malformation of predominantly genitourinary origin. Furthermore, prenatal MRIs confirmed previously detected malformations, but only provided additional diagnostic information in three out of ten cases, whereas postmortem examination diagnosed most of the craniofacial anomalies and should always be conducted, serving as an important quality indicator for prenatal imaging. |
| first_indexed | 2024-03-11T01:43:46Z |
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| language | English |
| last_indexed | 2024-03-11T01:43:46Z |
| publishDate | 2023-07-01 |
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| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-2e5408568e284df8a84d9a721b3693872023-11-18T16:22:02ZengMDPI AGDiagnostics2075-44182023-07-011313224410.3390/diagnostics13132244Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective AnalysisChiara Paternostro0Stephanie Springer1Gregor Kasprian2Gülen Yerlikaya-Schatten3Theresa Reischer4Division of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynaecology, Medical University of Vienna, 1090 Vienna, AustriaDivision of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynaecology, Medical University of Vienna, 1090 Vienna, AustriaDivision of Neuroradiology and Musculoskeletal Radiology, Department of Radiology, Medical University of Vienna, 1090 Vienna, AustriaDivision of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynaecology, Medical University of Vienna, 1090 Vienna, AustriaDivision of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynaecology, Medical University of Vienna, 1090 Vienna, AustriaThe 22q11.2 deletion syndrome (22q11.2 DS) is known as the most common microdeletion syndrome. Due to its variable clinical phenotype, prenatal diagnosis can be challenging. The aim of this retrospective study was to evaluate the clinical course and pregnancy outcome of cases with prenatally diagnosed 22q11.2 deletion syndrome (DS) as well as to evaluate the role of prenatal magnetic resonance imaging (MRI) and postmortem examination. In total, 21 cases who underwent prenatal ultrasound examination and pregnancy care at the Department of Obstetrics and Gynecology at the Medical University of Vienna between 2012 and 2022 were included. The majority of the cases were genetically diagnosed using fluorescent in situ hybridization (FISH). The median gestational age (GA) at genetic diagnosis was 23.0 weeks (IQR 21.4–24.8 weeks). CHDs were detected in all fetuses and the most common extracardiac manifestation was thymus hypo/aplasia followed by genitourinary anomalies. Prenatal magnetic resonance imaging (MRI) revealed additional diagnostic information in three of ten cases. Overall, 14 patients opted for drug-induced TOP, of which 9 cases had a feticide prior to the induction of labor. The majority of craniofacial malformations were only detected by autopsy. In conclusion, the majority of cases prenatally diagnosed with 22q11.2 DS had an absent or hypoplastic thymus noted antenatally in addition to the detected CHD, and almost half of the cases had another extracardiac malformation of predominantly genitourinary origin. Furthermore, prenatal MRIs confirmed previously detected malformations, but only provided additional diagnostic information in three out of ten cases, whereas postmortem examination diagnosed most of the craniofacial anomalies and should always be conducted, serving as an important quality indicator for prenatal imaging.https://www.mdpi.com/2075-4418/13/13/2244microdeletion syndrome22q11.2 deletion syndromeDiGeorge syndromecongenital heart defectprenatal MRIpostmortem examination |
| spellingShingle | Chiara Paternostro Stephanie Springer Gregor Kasprian Gülen Yerlikaya-Schatten Theresa Reischer Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective Analysis Diagnostics microdeletion syndrome 22q11.2 deletion syndrome DiGeorge syndrome congenital heart defect prenatal MRI postmortem examination |
| title | Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective Analysis |
| title_full | Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective Analysis |
| title_fullStr | Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective Analysis |
| title_full_unstemmed | Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective Analysis |
| title_short | Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective Analysis |
| title_sort | clinical course and outcome of prenatally detected 22q11 2 deletion syndrome a retrospective analysis |
| topic | microdeletion syndrome 22q11.2 deletion syndrome DiGeorge syndrome congenital heart defect prenatal MRI postmortem examination |
| url | https://www.mdpi.com/2075-4418/13/13/2244 |
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