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

Schut, P.C.; Verdijk, Robert M.; Joosten, Marieke; Eggink, Alex J.

doi:10.1136/bcr-2018-225381

Cited by 4 publications

(3 citation statements)

References 15 publications

(16 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Prenatal assessment of the vertebral pattern, including the detection of rudimentary cervical ribs, using (3‐dimensional) ultrasound seems feasible and warrants further attention. (Dall'Asta, Paramasivam, & Lees, 2016; Gindes, Benoit, Pretorius, & Achiron, 2008; Hershkovitz, 2008; Khodair & Hassanen, 2014; Schut, Verdijk, Joosten, & Eggink, 2018; Esser, Rogalla, Sarioglu, & Kalache, 2006).…”

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

Self Cite

View full text Add to dashboard Cite

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.

show abstract

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

Self Cite

View full text Add to dashboard Cite

show abstract

“…Prenatal assessment of the vertebral pattern, including the detection of rudimentary cervical ribs, using (3-dimensional) ultrasound seems feasible. 45-50…”

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

Self Cite

View full text Add to dashboard Cite

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.

show abstract

“…buphthalmos, and vitreous hemorrhage [15]; in terms of associations with the musculoskeletal system, we have Scoliosis [16], cervical ribs [17]; of the digestive system: bilateral choanal atresia [18];…”

Section: Clinical Casementioning

confidence: 99%

Hydrocephalus and Dandy-Walker syndrome. Clinical case

Villalobos-Rodríguez

2023

AJMCRR

View full text Add to dashboard Cite

Introduction. Dandy-Walker syndrome (DWS) is a developmental abnormality characterized by dilated posterior fossa, cystic enlargement of the fourth ventricle, hypoplasia of cerebellar vermis, and its upward rotation. The affected person may suffer from psychomotor retardation, ataxia, apnea attacks, muscle weakness, occasional muscle spasm, seizures, nystagmus, and macrocephaly. However, half of the cases have average intelligence. Clinical Case. Male newborn at 36 weeks gestation obtained by cesarean section, with a history in the current pregnancy of poor prenatal control. During the fifth month of pregnancy, an ultrasound established a diagnostic suspicion of massive ventriculomegaly. At the sixth month, thinning of the cerebral cortex compression of the cerebellum in the posterior fossa was detected, and a possible ruling out of chromosomopathy related to Dandy-Walker Syndrome was suggested. Discussion. Neurologically, this disease causes multiple anomalies, such as Hemorrhagic Stroke in a Young Adult with Undiagnosed Asymptomatic Dandy–Walker Malformation (5). The embryonic development of the cerebellum and fourth ventricle causes the tentorium to be displaced upwards, and the posterior fossa enlarges. The association of hydrocephalus with DWS is due to blockage of normal cerebrospinal flow, leading to an excessive amount of fluid accumulating in and around the brain and causing an increase in intracranial pressure and head circumference, which ultimately causes neurological impairment. Conclusions. The prognosis of patients with this syndrome depends on the association with intra/extracranial malformations. Early diagnosis of central nervous system abnormalities is considered one of the first objectives of obstetric ultrasound.

show abstract

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

Cited by 4 publications

References 15 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”

Hydrocephalus and Dandy-Walker syndrome. Clinical case

Contact Info

Product

Resources

About