Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review
Ring chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth restriction, clu...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-04-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/12/4/885 |
| _version_ | 1797436086818963456 |
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| author | Kuntharee Traisrisilp Yuri Yanase Krittaya Phirom Theera Tongsong |
| author_facet | Kuntharee Traisrisilp Yuri Yanase Krittaya Phirom Theera Tongsong |
| author_sort | Kuntharee Traisrisilp |
| collection | DOAJ |
| description | Ring chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth restriction, clubfeet and scoliosis. We also performed an analytical literature review of prenatal sonographic findings of the disease. This review suggests that ring chromosome 15 has a relatively specific sonographic pattern that could facilitate early detection. The specific sonographic features of ring chromosome 15 include fetal growth restriction, congenital diaphragmatic hernia, abnormal limb postures, cardiac defects, low-set ears and other less frequent, non-specific anomalies that can be identified in more than 50% of cases. |
| first_indexed | 2024-03-09T10:57:36Z |
| format | Article |
| id | doaj.art-c3c404e8f3b1404a8a98c83af09ec93e |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T10:57:36Z |
| publishDate | 2022-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-c3c404e8f3b1404a8a98c83af09ec93e2023-12-01T01:32:29ZengMDPI AGDiagnostics2075-44182022-04-0112488510.3390/diagnostics12040885Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature ReviewKuntharee Traisrisilp0Yuri Yanase1Krittaya Phirom2Theera Tongsong3Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, ThailandDepartment of Obstetrics and Gynecology, Nakornping Hospital, Chiang Mai 50180, ThailandDepartment of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, ThailandDepartment of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, ThailandRing chromosome 15, a rare genetic disease, is very rarely prenatally diagnosed. We present a unique case of fetal ring chromosome 15 with ultrasound findings at 32 weeks of gestation including congenital diaphragmatic hernia, hypoplasia of the aorta with persistent left SVC, growth restriction, clubfeet and scoliosis. We also performed an analytical literature review of prenatal sonographic findings of the disease. This review suggests that ring chromosome 15 has a relatively specific sonographic pattern that could facilitate early detection. The specific sonographic features of ring chromosome 15 include fetal growth restriction, congenital diaphragmatic hernia, abnormal limb postures, cardiac defects, low-set ears and other less frequent, non-specific anomalies that can be identified in more than 50% of cases.https://www.mdpi.com/2075-4418/12/4/885prenatal diagnosisring chromosome 15ultrasound |
| spellingShingle | Kuntharee Traisrisilp Yuri Yanase Krittaya Phirom Theera Tongsong Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review Diagnostics prenatal diagnosis ring chromosome 15 ultrasound |
| title | Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review |
| title_full | Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review |
| title_fullStr | Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review |
| title_full_unstemmed | Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review |
| title_short | Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review |
| title_sort | prenatal sonographic features of ring chromosome 15 a case report and literature review |
| topic | prenatal diagnosis ring chromosome 15 ultrasound |
| url | https://www.mdpi.com/2075-4418/12/4/885 |
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