Prenatal Diagnosis of Fetal Visceral Situs Abnormalities: A Retrospective Study
Background: To explore the necessity for prenatal diagnosis and evaluate related diagnostic methods for fetal visceral situs abnormalities. Methods: A retrospective analysis was performed to examine the clinical...
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| Format: | Article |
| Language: | English |
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IMR Press
2025-07-01
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| Series: | Clinical and Experimental Obstetrics & Gynecology |
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| Online Access: | https://www.imrpress.com/journal/CEOG/52/7/10.31083/CEOG38854 |
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| author | Xiaoping Gong Mingli Lv Guanjie Wang Yunyun Cao Ping Chen Hui Wang |
| author_facet | Xiaoping Gong Mingli Lv Guanjie Wang Yunyun Cao Ping Chen Hui Wang |
| author_sort | Xiaoping Gong |
| collection | DOAJ |
| description | Background: To explore the necessity for prenatal diagnosis and evaluate related diagnostic methods for fetal visceral situs abnormalities. Methods: A retrospective analysis was performed to examine the clinical data and pregnancy outcomes of 43 cases of fetal visceral situs abnormalities diagnosed at our hospital between May 2018 and September 2023, using prenatal ultrasound consultation as the diagnostic standard. Results: Among the 43 cases of fetal visceral situs abnormalities, 46.51% (20/43) were diagnosed as situs inversus, of which 95.00% (19/20) had no associated cardiac structural abnormalities. Heterotaxy syndrome accounted for 53.49% (23/43) of cases and was associated with cardiac structural abnormalities (100.00%, 23/23) of these patients. The most common cardiac abnormalities involved a single atrium and a single ventricle (56.52%, 13/23), followed by double-outlet right ventricle (34.78%, 8/23), and pulmonary artery stenosis (30.43%, 7/23). Amniocentesis was performed in 21 (48.84%, 21/43) cases, with both chromosomal karyotyping and chromosomal microarray analyses yielding negative results. Among these cases, 15 underwent whole-exome sequencing (WES), which identified 5 with suspected pathogenic gene variants related to primary ciliary dyskinesia (PCD) and 1 with Holt–Oram syndrome (HOS). Conclusions: Prenatal ultrasonography is a reliable method for diagnosing fetal visceral situs abnormalities. Moreover, for fetuses diagnosed with visceral situs abnormalities and pregnant women with normal chromosomal results, WES remains essential to improve the detection rates of PCD or other genetic abnormalities. |
| format | Article |
| id | doaj-art-5c2e6d4c4f69406a9bfd37fa834cb58d |
| institution | Kabale University |
| issn | 0390-6663 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | IMR Press |
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| series | Clinical and Experimental Obstetrics & Gynecology |
| spelling | doaj-art-5c2e6d4c4f69406a9bfd37fa834cb58d2025-08-20T03:39:17ZengIMR PressClinical and Experimental Obstetrics & Gynecology0390-66632025-07-015273885410.31083/CEOG38854S0390-6663(25)02628-4Prenatal Diagnosis of Fetal Visceral Situs Abnormalities: A Retrospective StudyXiaoping Gong0Mingli Lv1Guanjie Wang2Yunyun Cao3Ping Chen4Hui Wang5Department of Ultrasound Diagnosis, The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 200030 Shanghai, ChinaDepartment of Ultrasound Diagnosis, The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 200030 Shanghai, ChinaDepartment of Ultrasound Diagnosis, The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 200030 Shanghai, ChinaDepartment of Ultrasound Diagnosis, The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 200030 Shanghai, ChinaDepartment of Ultrasound Diagnosis, The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 200030 Shanghai, ChinaDepartment of Ultrasound Diagnosis, The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 200030 Shanghai, ChinaBackground: To explore the necessity for prenatal diagnosis and evaluate related diagnostic methods for fetal visceral situs abnormalities. Methods: A retrospective analysis was performed to examine the clinical data and pregnancy outcomes of 43 cases of fetal visceral situs abnormalities diagnosed at our hospital between May 2018 and September 2023, using prenatal ultrasound consultation as the diagnostic standard. Results: Among the 43 cases of fetal visceral situs abnormalities, 46.51% (20/43) were diagnosed as situs inversus, of which 95.00% (19/20) had no associated cardiac structural abnormalities. Heterotaxy syndrome accounted for 53.49% (23/43) of cases and was associated with cardiac structural abnormalities (100.00%, 23/23) of these patients. The most common cardiac abnormalities involved a single atrium and a single ventricle (56.52%, 13/23), followed by double-outlet right ventricle (34.78%, 8/23), and pulmonary artery stenosis (30.43%, 7/23). Amniocentesis was performed in 21 (48.84%, 21/43) cases, with both chromosomal karyotyping and chromosomal microarray analyses yielding negative results. Among these cases, 15 underwent whole-exome sequencing (WES), which identified 5 with suspected pathogenic gene variants related to primary ciliary dyskinesia (PCD) and 1 with Holt–Oram syndrome (HOS). Conclusions: Prenatal ultrasonography is a reliable method for diagnosing fetal visceral situs abnormalities. Moreover, for fetuses diagnosed with visceral situs abnormalities and pregnant women with normal chromosomal results, WES remains essential to improve the detection rates of PCD or other genetic abnormalities.https://www.imrpress.com/journal/CEOG/52/7/10.31083/CEOG38854abnormal position of viscerawesprenatal diagnosis |
| spellingShingle | Xiaoping Gong Mingli Lv Guanjie Wang Yunyun Cao Ping Chen Hui Wang Prenatal Diagnosis of Fetal Visceral Situs Abnormalities: A Retrospective Study Clinical and Experimental Obstetrics & Gynecology abnormal position of viscera wes prenatal diagnosis |
| title | Prenatal Diagnosis of Fetal Visceral Situs Abnormalities: A Retrospective Study |
| title_full | Prenatal Diagnosis of Fetal Visceral Situs Abnormalities: A Retrospective Study |
| title_fullStr | Prenatal Diagnosis of Fetal Visceral Situs Abnormalities: A Retrospective Study |
| title_full_unstemmed | Prenatal Diagnosis of Fetal Visceral Situs Abnormalities: A Retrospective Study |
| title_short | Prenatal Diagnosis of Fetal Visceral Situs Abnormalities: A Retrospective Study |
| title_sort | prenatal diagnosis of fetal visceral situs abnormalities a retrospective study |
| topic | abnormal position of viscera wes prenatal diagnosis |
| url | https://www.imrpress.com/journal/CEOG/52/7/10.31083/CEOG38854 |
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