ArticleBirth defects research2020
Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs.
Article in Birth defects research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Prenatal Assessment of Fetal Vertebrae and Ribs by Three-Dimensional Ultrasound and the Association with Fetal and Neonatal Outcome.Fetal diagnosis and therapy · 2026Article
- The Role of Plain Radiography in Assessing Aborted Foetal Musculoskeletal Anomalies in Everyday Practice.Journal of imaging · 2024Article
- Increased incidences of cervical ribs in deer indicate extinction risk.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Breaking the constraint on the number of cervical vertebrae in mammals: On homeotic transformations in lorises and pottos.Evolution & development · 2022Article
- Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs.Birth defects research · 2020Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCervical patterning abnormalities are rare in the general population, but one variant, cervical ribs, is particularly common in deceased fetuses and neonates. The discrepancy between the incidence in the general population and early mortality is likely due to indirect selection against cervical ribs. The cause for the co-occurrence of cervical ribs and adverse outcome remains unidentified. Copy number variations resulting in gain or loss of specific genes involved in development and patterning could play a causative role.
methodsRadiographs of 374 deceased fetuses and infants, including terminations of pregnancies, stillbirths and neonatal deaths, were assessed. Copy number profiles of 265 patients were determined using single nucleotide polymorphism array.
results274/374 patients (73.3%) had an abnormal vertebral pattern, which was associated with congenital abnormalities. Cervical ribs were present in 188/374 (50.3%) and were more common in stillbirths (69/128 [53.9%]) and terminations of pregnancies (101/188 [53.7%]), compared to live births (18/58, 31.0%). Large (likely) deleterious copy number variants and aneuploidies were prevalent in these patients. None of the rare copy number variants were recurrent or overlapped with candidate genes for vertebral patterning.
conclusionsThe large variety of copy number variants in deceased fetuses and neonates with similar abnormalities of the vertebral pattern probably reflects the etiological heterogeneity of vertebral patterning abnormalities. This genetic heterogeneity corresponds with the hypothesis that cervical ribs can be regarded as a sign of disruption of critical, highly interactive stages of embryogenesis. The vertebral pattern can probably provide valuable information regarding fetal and neonatal outcome.
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