Concomitant Craniorachischisis Andomphalocele in a Male Fetus: Prenatal Magnetic Resonance Imaging Findings and Literature Review
Objective: To present the prenatal magnetic resonance imaging (MRI) findings of concomitant craniorachischisis and omphalocele, review the literature, and discuss the pathogenesis. Case Report: A 20-year-old, gravida 2, para 0, woman was referred to genetic counseling at 17 weeks of gestation becaus...
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| Format: | Article |
| Language: | English |
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Elsevier
2009-09-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455909603065 |
| _version_ | 1819109379654287360 |
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| author | Chih-Ping Chen Yu-Peng Liu Fuu-Jen Tsai Chen-Yu Chen Hung-Hung Lin Pei-Chen Wu Wayseen Wang |
| author_facet | Chih-Ping Chen Yu-Peng Liu Fuu-Jen Tsai Chen-Yu Chen Hung-Hung Lin Pei-Chen Wu Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: To present the prenatal magnetic resonance imaging (MRI) findings of concomitant craniorachischisis and omphalocele, review the literature, and discuss the pathogenesis.
Case Report: A 20-year-old, gravida 2, para 0, woman was referred to genetic counseling at 17 weeks of gestation because of multiple congenital malformations in the fetus. Level II ultrasound revealed acrania, a ventricular septal defect, an upward-turned face, and omphalocele containing the intestines. MRI revealed normal extremities, exencephaly, hyperextension of the fetal head, significant shortening of the spinal column, marked lordosis and hyperextension of the malformed spine, an upward-turned face, and absence of a neck. A diagnosis of iniencephaly associated with anencephaly, rachischisis and omphalocele was made. Amniocentesis revealed a karyotype of 46,XY. Postnatal X-ray showed anencephaly with total spina bifida of the cervical and thoracic spine.
Conclusion: Prenatal MRI is able to provide a clear whole-body image of the fetus and its relationship with the placenta. Prenatal MRI is very useful in the differential diagnosis of concomitant craniorachischisis and omphalocele from amniotic band sequence, limb body–wall complex with craniofacial defect and Disorganization human homologue. |
| first_indexed | 2024-12-22T03:24:54Z |
| format | Article |
| id | doaj.art-bb000d87501740519d90dfb906b3b885 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-22T03:24:54Z |
| publishDate | 2009-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-bb000d87501740519d90dfb906b3b8852022-12-21T18:40:39ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592009-09-0148328629110.1016/S1028-4559(09)60306-5Concomitant Craniorachischisis Andomphalocele in a Male Fetus: Prenatal Magnetic Resonance Imaging Findings and Literature ReviewChih-Ping Chen0Yu-Peng Liu1Fuu-Jen Tsai2Chen-Yu Chen3Hung-Hung Lin4Pei-Chen Wu5Wayseen Wang6Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Radiology, Mackay Memorial Hospital, Taipei, TaiwanSchool of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanObjective: To present the prenatal magnetic resonance imaging (MRI) findings of concomitant craniorachischisis and omphalocele, review the literature, and discuss the pathogenesis. Case Report: A 20-year-old, gravida 2, para 0, woman was referred to genetic counseling at 17 weeks of gestation because of multiple congenital malformations in the fetus. Level II ultrasound revealed acrania, a ventricular septal defect, an upward-turned face, and omphalocele containing the intestines. MRI revealed normal extremities, exencephaly, hyperextension of the fetal head, significant shortening of the spinal column, marked lordosis and hyperextension of the malformed spine, an upward-turned face, and absence of a neck. A diagnosis of iniencephaly associated with anencephaly, rachischisis and omphalocele was made. Amniocentesis revealed a karyotype of 46,XY. Postnatal X-ray showed anencephaly with total spina bifida of the cervical and thoracic spine. Conclusion: Prenatal MRI is able to provide a clear whole-body image of the fetus and its relationship with the placenta. Prenatal MRI is very useful in the differential diagnosis of concomitant craniorachischisis and omphalocele from amniotic band sequence, limb body–wall complex with craniofacial defect and Disorganization human homologue.http://www.sciencedirect.com/science/article/pii/S1028455909603065craniorachischisisiniencephalymagnetic resonance imagingneural tube defectomphaloceleprenatal diagnosis |
| spellingShingle | Chih-Ping Chen Yu-Peng Liu Fuu-Jen Tsai Chen-Yu Chen Hung-Hung Lin Pei-Chen Wu Wayseen Wang Concomitant Craniorachischisis Andomphalocele in a Male Fetus: Prenatal Magnetic Resonance Imaging Findings and Literature Review Taiwanese Journal of Obstetrics & Gynecology craniorachischisis iniencephaly magnetic resonance imaging neural tube defect omphalocele prenatal diagnosis |
| title | Concomitant Craniorachischisis Andomphalocele in a Male Fetus: Prenatal Magnetic Resonance Imaging Findings and Literature Review |
| title_full | Concomitant Craniorachischisis Andomphalocele in a Male Fetus: Prenatal Magnetic Resonance Imaging Findings and Literature Review |
| title_fullStr | Concomitant Craniorachischisis Andomphalocele in a Male Fetus: Prenatal Magnetic Resonance Imaging Findings and Literature Review |
| title_full_unstemmed | Concomitant Craniorachischisis Andomphalocele in a Male Fetus: Prenatal Magnetic Resonance Imaging Findings and Literature Review |
| title_short | Concomitant Craniorachischisis Andomphalocele in a Male Fetus: Prenatal Magnetic Resonance Imaging Findings and Literature Review |
| title_sort | concomitant craniorachischisis andomphalocele in a male fetus prenatal magnetic resonance imaging findings and literature review |
| topic | craniorachischisis iniencephaly magnetic resonance imaging neural tube defect omphalocele prenatal diagnosis |
| url | http://www.sciencedirect.com/science/article/pii/S1028455909603065 |
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