Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21

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

doi:10.1080/14767058.2018.1431622

Cited by 5 publications

(3 citation statements)

References 46 publications

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“…Cervical ribs were detected in the majority of patients with an aneuploidy or abnormal microarray result. The reported prevalence of cervical ribs in aneuploidies ranges between 12.5 and 100% (Furtado et al, 2011; Schut, Ten Broek, et al, 2018). Studies reporting on cervical ribs in populations with microarray abnormalities are lacking.…”

Section: Discussionmentioning

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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Section: Discussionmentioning

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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“…The reported prevalence of cervical ribs in aneuploidies ranges between 12.5 and 100%. 14,35 Studies reporting on cervical ribs in populations with microarray abnormalities are lacking. The number of patients with similar chromosomal or genetic abnormalities in this cohort was insufficient to enable the detection of statistically significant associations between cervical ribs and specific chromosomal or genetic abnormalities.…”

Section: Discussionmentioning

confidence: 99%

“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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“…The prevalence of cervical ribs in deceased fetuses and neonates with aneuploidies, such as monosomy X and trisomy 21, has been shown to be significantly higher compared with the prevalence in deceased fetuses and neonates with a normal karyotype 5 6…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of cervical ribs by three-dimensional ultrasound in a foetus with a herniated Dandy-Walker cyst

et al. 2018

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We present a case report of a foetus with a herniated Dandy-Walker cyst and bilateral rudimentary cervical ribs. The cervical ribs were visualised prenatally by three-dimensional ultrasound and confirmed by post-termination radiography. The prevalence of cervical ribs is higher in deceased fetuses and neonates with or without structural abnormalities compared with healthy individuals and might be regarded as a marker of disadvantageous fetal development. We demonstrate that evaluation of the fetal vertebral pattern by three-dimensional ultrasonography, including the cervical region, is feasible and could provide valuable information regarding fetal and neonatal prognosis.

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Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21

Cited by 5 publications

References 46 publications

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

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

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

Prenatal diagnosis of cervical ribs by three-dimensional ultrasound in a foetus with a herniated Dandy-Walker cyst

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