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Search Results (2)

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Keywords = fetal hemivertebra

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10 pages, 476 KiB  
Article
Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra
by Hang Zhou, You Wang, Ruibin Huang, Fang Fu, Ru Li, Ken Cheng, Dan Wang, Qiuxia Yu, Yongling Zhang, Xiangyi Jing, Tingying Lei, Jin Han, Xin Yang, Dongzhi Li and Can Liao
Genes 2022, 13(9), 1623; https://doi.org/10.3390/genes13091623 - 9 Sep 2022
Cited by 3 | Viewed by 3159
Abstract
Background: There are few studies on the burden of chromosomal abnormalities and single gene disorders in fetal hemivertebra (HV). We aim to investigate the cytogenetic and monogenic risk and evaluate prenatal outcomes of fetal HV. Method: This study included fetuses diagnosed with HV [...] Read more.
Background: There are few studies on the burden of chromosomal abnormalities and single gene disorders in fetal hemivertebra (HV). We aim to investigate the cytogenetic and monogenic risk and evaluate prenatal outcomes of fetal HV. Method: This study included fetuses diagnosed with HV divided into two groups: isolated HV and non-isolated HV. Data on other sonographic structural anomalies, chromosomal and sub-chromosomal abnormalities, monogenic variations detected by WES, and prenatal outcomes are recorded and reviewed. Results: Among 109 fetal HV cases, forty-seven (43.1%) non-isolated HV cases were associated with structural anomalies. Chromosomal test results were available in 58 cases, identifying six (10.3%) chromosomal aberrations involved in four isolated and two non-isolated HV. WES identified four (likely) pathogenic variants in three cases among 16 fetuses with HV, involving three novel variants, 1250G > T and c.1277G> inherited from parents, respectively, in DLL3 and c.7213C > A ** in the FLNB. The live birth rate (LB) was higher in the isolated fetal HV group than in the non-isolated group (67.7% (42/62) vs. 12.5% (12/47), p < 0.001). Conclusion: This study emphasizes the risk of cytogenetic abnormalities in isolated HV. WES yields a diagnostic rate of 18.3% in HV with normal CMA, probably aiding the prenatal counseling and management of fetal HV. Full article
(This article belongs to the Special Issue Genetics and Genomics of Skeletal Disorders)
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8 pages, 16613 KiB  
Case Report
First-Trimester Diagnosis of Supernumerary Hemivertebra
by Roxana Elena Bohiltea, Ionita Ducu, Bianca Margareta Mihai, Ana-Maria Iordache, Vlad Dima, Emilia Maria Vladareanu, Nicolae Bacalbasa, Alexia-Teodora Bohiltea, Teodor Salmen and Valentin Varlas
Diagnostics 2022, 12(2), 373; https://doi.org/10.3390/diagnostics12020373 - 1 Feb 2022
Cited by 6 | Viewed by 8026
Abstract
Hemivertebra is a common cause of congenital scoliosis and results from a lack of formation of one-half of the vertebral body. This condition is very rare and can present as solitary or as a syndrome component: i.e., the split notochord syndrome, which often [...] Read more.
Hemivertebra is a common cause of congenital scoliosis and results from a lack of formation of one-half of the vertebral body. This condition is very rare and can present as solitary or as a syndrome component: i.e., the split notochord syndrome, which often implies vertebral defects, from a bifid vertebra to hemivertebrae, or fused vertebrae. We describe a case of supernumerary lateral hemivertebra detected prenatally at 12 weeks of gestation and the ultrasonography specifics that lead to early and accurate diagnosis, monitoring during pregnancy, and follow-up at the 4-year period. The case is presented to specify the importance of an early assessment of fetal spine and diagnosis of various conditions, including hemivertebrae, considering the significant association with other anomalies (cardiovascular, urinary, skeletal, gastrointestinal, and central nervous systems), which are most commonly involved. Moreover, the need to counsel future parents on the risks implied by this anomaly is important for the obstetrician. We underline the inclusion of these types of congenital conditions in high-risk pregnancy because of the frequent association with high cesarean delivery rates, growth restriction, delivery before term, and higher morbidity rates. Full article
(This article belongs to the Special Issue Imaging of Fetal and Maternal Diseases in Pregnancy)
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