Adverse Fetal and Neonatal Outcome and an Abnormal Vertebral Pattern: A Systematic Review

Schut, P.C.; Cohen–Overbeek, Titia E.; Galis, Frietson; Broek, Clara M. A. ten; Steegers, Eric A.P.; Eggink, Alex J.

doi:10.1097/ogx.0000000000000388

Cited by 12 publications

(8 citation statements)

References 39 publications

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“…The prevalence was noticeably higher in this population, compared to living children or adults who are not known to have structural, chromosomal or genetic abnormalities, as reported in the literature. 9 These findings are in line with the study of ten Broek et al, who included a similar study population. 6 The differences in vertebral pattern between subgroups categorized into affected organ system were less obvious compared to the study of ten Broek et al 6 , which could be due to the smaller number of included patients in our study.…”

Section: Discussionsupporting

confidence: 90%

“…11,12,34 In addition, no differences between the presence of cervical ribs in fetuses and infants was found by Galis et al 7 and the prevalence of cervical ribs was not substantially lower in adults compared to children in the general population. 9…”

Section: Discussionmentioning

confidence: 99%

“…5-8 The low prevalence of cervical ribs in healthy pediatric or adult populations, compared to the high prevalence in deceased fetuses and neonates, supports this hypothesis. 7,9 A high prevalence of abnormalities in vertebral patterning is also found in children with specific pediatric malignancies. 10-13 Furthermore, Galis et al 7 concluded that the majority of individuals with cervical ribs, are not expected to reach reproductive age.…”

Section: Introductionmentioning

confidence: 99%

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“Abnormal vertebral patterns in genetically heterogeneous deceased fetuses and neonates: evidence of selection against variations”

Schut¹,

Brosens

Galis

et al. 2019

Preprint

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ObjectiveTo assess the vertebral pattern in a cohort of deceased fetuses and neonates, and to study the possible impact of DNA Copy Number Variations (CNVs) in coding regions and/or disturbing enhancers on the development of the vertebral pattern.MethodRadiographs of 445 fetuses and infants, deceased between 2009 and 2015, were assessed. Terminations of pregnancies, stillbirths and neonatal deaths were included. Patients were excluded if the vertebral pattern could not be determined. Copy number profiles of 265 patients were determined using single nucleotide polymorphism array.Results274/374 patients (73.3%) had an abnormal vertebral pattern. Cervical ribs were present in 188/374 (50.3%) and were significantly more common in stillbirths (69/128 (53.9%)) and terminations of pregnancies (101/188 (53.7%)), compared to live births (18/58, 31.0%, p = 0.006). None of the rare CNVs were recurrent or overlapped candidate genes for vertebral patterning.ConclusionThe presence of an abnormal vertebral pattern, particularly in the cervical region, could be a sign of disruption at critical, highly interactive and conserved stages of embryogenesis. The vertebral pattern might provide valuable information regarding fetal and neonatal outcome. CNV analyses did not identify a mutual genetic cause for the occurrence of vertebral patterning abnormalities, indicating genetic heterogeneity.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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“Abnormal vertebral patterns in genetically heterogeneous deceased fetuses and neonates: evidence of selection against variations”

Schut¹,

Brosens

Galis

et al. 2019

Preprint

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“…In humans, the incidence in the general population is estimated to be between 0.5 and 1% and is only higher than 1% in diseased or isolated populations ( Galis et al, 2006 ). A particularly high incidence has been found in children with cancer (15–25%; Schumacher, Mai & Gutjahr, 1992 ; Merks et al, 2005 ; Galis & Metz, 2003 ) and deceased fetuses (approximately 50%; Galis et al, 2006 ; Furtado et al, 2011 ; Ten Broek et al, 2012 ; Schut et al, 2016 ). Investigations of skeletons of other extant mammalian species found support for an association between cervical ribs (C/T vertebrae) and defects, such as fused vertebrae and ossification abnormalities ( Varela-Lasheras et al, 2011 ; Ten Broek et al, 2012 ).…”

Section: Discussionmentioning

confidence: 99%

High incidence of cervical ribs indicates vulnerable condition in Late Pleistocene woolly rhinoceroses

Geer

Galis

2017

PeerJ

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Mammals as a rule have seven cervical vertebrae, a number that remains remarkably constant. Changes of this number are associated with major congenital abnormalities (pleiotropic effects) that are, at least in humans, strongly selected against. Recently, it was found that Late Pleistocene mammoths (Mammuthus primigenius) from the North Sea have an unusually high incidence of abnormal cervical vertebral numbers, approximately ten times higher than that of extant elephants. Abnormal numbers were due to the presence of large cervical ribs on the seventh vertebra, indicating a homeotic change from a cervical rib-less vertebra into a thoracic rib-bearing vertebra. The high incidence of cervical ribs indicates a vulnerable condition and is thought to be due to inbreeding and adverse conditions that may have impacted early pregnancies in declining populations. In this study we investigated the incidence of cervical ribs in another extinct Late Pleistocene megaherbivore from the North Sea and the Netherlands, the woolly rhinoceros (Coelodonta antiquitatis). We show that the incidence of abnormal cervical vertebral numbers in the woolly rhinoceros is unusually high for mammals (15,6%, n = 32) and much higher than in extant Rhinoceratidae (0%, n = 56). This indicates that woolly rhinoceros lived under vulnerable conditions, just like woolly mammoths. The vulnerable condition may well have contributed to their eventual extinction.

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“…It has been hypothesized that the lack of variation in cervical vertebral patterning in the general population is the result of strong selection against changes (Galis et al, 2006;Narita & Kuratani, 2005;Ten Broek et al, 2012;Varela-Lasheras et al, 2011). The low prevalence of cervical ribs in healthy pediatric or adult populations, compared to the high prevalence in deceased fetuses and neonates, supports this hypothesis of selection (Galis et al, 2006;Schut et al, 2016). A high prevalence of abnormalities in vertebral patterning is also found in children with specific pediatric malignancies (Loder, Huffman, Toney, Wurtz, & Fallon, 2007;Merks et al, 2005;Schumacher, Mai, & Gutjahr, 1992;Zierhut, Murati, Holm, Hoggard, & Spector, 2011).…”

Section: Introductionmentioning

confidence: 99%

Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs

Schut

Brosens

Dooren

et al. 2020

Birth Defects Research

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Background: Cervical 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. Methods: Radiographs 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. Results: 274/374 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. Conclusions: The 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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Adverse Fetal and Neonatal Outcome and an Abnormal Vertebral Pattern: A Systematic Review

Abstract: Prenatal assessment of the ribs and vertebral pattern by 3D ultrasound, which is currently not routinely performed, might be useful in the assessment of the fetus, because this can predict fetal and neonatal outcome in some cases.

Cited by 12 publications

References 39 publications

“Abnormal vertebral patterns in genetically heterogeneous deceased fetuses and neonates: evidence of selection against variations”

“Abnormal vertebral patterns in genetically heterogeneous deceased fetuses and neonates: evidence of selection against variations”

High incidence of cervical ribs indicates vulnerable condition in Late Pleistocene woolly rhinoceroses

Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs

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