Abnormalities of fetal rib number and associated fetal anomalies using three dimensional ultrasonography

Khodair, Sameh Ahmad; Hassanen, Omar

doi:10.1016/j.ejrnm.2014.03.009

Cited by 9 publications

(16 citation statements)

References 18 publications

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“…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

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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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“…In two (4%) cases, the 12 th rib was bilaterally absent which is the usual cause of such error [1] . Prevalence of bilateral absence of 12 th rib ranges from 3.2% [13] to 6.6% [14] . In 6 (12%) cases, the 12 th rib was normal.…”

Section: Discussionmentioning

confidence: 99%

Anatomical Factors Affecting DXA Scan Measurement of Bone Mineral Density in Lumber Spine

2020

IJPHRD

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Background: Dual-energy X-ray absorptiometry scan is used to measure bone mineral density. Correct measurements greatly depend on accurate selection of targeted anatomical areas of bone. Various anatomical factors including anatomical knowledge can be a potential source of error; they can falsely increase or decrease measured bone mineral density. Technician ability to recognize these factors is critical for accurate scan analysis. The aim of study was to demonstrate the prevalence of different anatomical factors affecting Dual-energy X-ray absorptiometry scan results and to analyze how they affect final clinical decision.Method: Using systematic random selection, Dual-energy X-ray absorptiometry records of lumbar spine for 50 patients were divided into two categories;the first was normal and affected by anatomical factor. The second category was divided into five groups (A1 -A5) containing a spectrum of anatomical factors that may influence bone mineral density measurements. Reports analyzed using measurements of bone mineral density, T/Z-scores from WHO based OPC. A1 and A4 were not analyzed further. A2, A3, and A5 reports were recalculated using anatomical landmarks.Results: Data from current study showed that anatomical factors affecting bone mineral density were prevalent (72%). A1 included 14 cases (28%), A2 included 8 cases (16%), A3 included 8 cases (16%), A4 and A5 included 3 cases (6%) for each. Group A2 showed a significant increase in bone mineral density. T/Z-scores (mean±SD) after reselection of ROI, were 0.44±0.19. OPC changed in three cases from A2, 3, and 5 when T/Z-score was border-line. Conclusion:Optimal DXA reports require well-trained technicians and expert clinicians who can recognize diverse anatomical factors influencing results. Effects of AF can be reduced by initiating or improving training programs of involved persons. Further studies are recommended to explore the extent to which each group of anatomical factors affects T/Z-scores.

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“…The morphology and size of the ribs may change gradually, so no obvious distinctions between the cervical and dorsal region may be present and correspondence between isolated ribs and vertebrae may be difficult to ascertain [35–37]. Furthermore, significant variation (pathological or not) in the number of ribs is found within amniote populations, resulting from uni- or bilateral absence or hypoplasia of ribs [38–44], presence of supernumerary ribs [40,41,43,45–49], or their co-ossification [40,41,46,50]. Various types of scoliosis may or may not be correlated with rib aplasia, presence of additional ribs, rib malformation or asymmetry [29–32,39,41,51,52].…”

Section: Discussionmentioning

confidence: 99%

New tomographic contribution to characterizing mesosaurid congenital scoliosis

et al. 2019

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The presence of a pathology in the vertebral column of the early Permian mesosaurid specimen ZPAL R VII/1, being one of the oldest amniotic occurrences of congenital scoliosis caused by a hemivertebra, was recently recognized. Here we provide CT data to further characterize the phenomenon. The affected hemivertebra is wedged (incarcerated) between the preceding and succeeding vertebrae. The neural canal is misshapen but continuous and the number of dorsal ribs on each side of the specimen corresponds with the number of the vertebrae, documenting its congenital (homeobox-related) derivation.

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Abnormalities of fetal rib number and associated fetal anomalies using three dimensional ultrasonography

Cited by 9 publications

References 18 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

Anatomical Factors Affecting DXA Scan Measurement of Bone Mineral Density in Lumber Spine

New tomographic contribution to characterizing mesosaurid congenital scoliosis

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