Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy

Wong, Geoffrey Yuet Mun; Wong, Shiu F.; Chan, Wilma; Ng, W. F.

doi:10.1002/uog.2769

Cited by 11 publications

(8 citation statements)

References 11 publications

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“…It has been suggested to evaluate the position of the conus medullaris by identifying the lowest fetal rib (T12) [23] or to measure the distance between the co-nus medullaris and the top of the first sacral vertebra. In our case of spondylocostal dysplasia, even though it is frequently reported, no spinal cord malformation was observed [24] .…”

Section: Discussioncontrasting

confidence: 53%

Prenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations

Morel

Friszer²,

Jouannic³

et al. 2017

Fetal Diagn Ther

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Introduction: Systematic analysis of the spine is recommended as part of the basic sonographic examination. The aim of our study is to assess the proportion of spinal cord anomalies diagnosed following detection of a sacral anomaly. Material and Methods: We analyzed retrospectively collected data in a prenatal tertiary center during a 9-year period. Patients were referred for second-line ultrasound in the context of diabetes mellitus or following detection of pelvic or lower spine anomalies. We included all cases of sacral anomalies with available postnatal or postmortem outcomes (imaging and/or pathologic data) and excluded all cases of open dysraphism (myelomeningocele). Results: Nineteen patients were included. The mean gestational age was 28 weeks (21-39). Sacral anomalies included 2 cases of complete agenesis, 12 cases of partial agenesis, 4 segmentation anomalies, and 1 case of abnormal angulation of the sacral spine. Fourteen associated spinal cord malformations included 8 tethered spinal cords, 5 truncated spinal cords, and 1 lipoma of the filum terminale. All anomalies were confirmed by postnatal or postmortem examinations. Conclusions: Sacral anomalies detected during basic sonographic examination represent an important warning sign for associated spinal cord anomalies, with possible poor neonatal outcome.

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Section: Discussioncontrasting

confidence: 53%

Prenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations

Morel

Friszer²,

Jouannic³

et al. 2017

Fetal Diagn Ther

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“…Molecular prenatal diagnosis of SCD has been described [Whittock et al, 2003]. Increased nuchal translucency in the first trimester has been reported when the fetus is affected by SCD [Eliyahu et al, 1997; Hull et al, 2001; Kauffmann et al, 2003; Wong et al, 2006]. Nuchal oedema has been described in at least 20 different skeletal dysplasias, with the underlying mechanism postulated to be intrathoracic compression leading to venous congestion in the head and neck [Souka et al, 2005].…”

Section: Discussionmentioning

confidence: 99%

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

Coman

Bacic

Boys

et al. 2008

American J of Med Genetics Pt A

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The spondylocostal dysostoses (SCD) are a clinically and genetically heterogeneous group of disorders characterized by defects of vertebral segmentation and rib abnormalities. We report on the diagnosis of two siblings with SCD. Diagnosis was first made in a female infant following a pregnancy that was complicated by early fetal hydrops and a nuchal translucency of 8.2 mm in the first trimester. The clinical picture was complicated by the co-existent diagnosis of confined placental mosaicism (CPM) for tetrasomy 9p. To our knowledge, this is the first report of CPM for tetrasomy 9p. Postnatally the diagnosis of SCD was made on the basis of radiographic findings comprising multiple anomalies of the cervical and thoracic vertebrae and multiple fused and dysplastic ribs. Radiographic investigation of other family members showed that the infant's 4-year-old sibling had fusion of four ribs on the right side, indicating a less severe form of SCD. Testing of the genes DLL3, MESP2, and LFNG did not identify a mutation, suggesting that the siblings may have a new molecular subtype of SCD.

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“…[3][4][5] Case reports of abnormal ribs shown on 3-dimensional ultrasonography (3DUS) in association with spondylothoracic or spondylocostal dysostosis have also been reported. 3,5,6 To our knowledge, no data regarding the ultrasonographic demonstration of the number of fetal ribs have been reported. A recent case report emphasized the association of an abnormal number of fetal ribs and trisomy 21; however, the exact importance of an abnormal number of ribs is not known.…”

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confidence: 99%

“…None of our fetuses had severe spondylocostal dysostosis, which is a rare congenital disorder characterized by short-trunk dwarfism associated with rib and vertebral anomalies. 5 Benoit 4 described the use of 3D imaging in evaluation of the fetal skeleton. He suggested that 3DUS is the investigation tool of choice for studying the fetal skeleton at any time during gestation.…”

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confidence: 99%

“…1,2 New 3-dimensional (3D) technology allows assessment of in utero fetal rib morphologic and pathologic characteristics. [3][4][5] Case reports of abnormal ribs shown on 3-dimensional ultrasonography (3DUS) in association with spondylothoracic or spondylocostal dysostosis have also been reported. 3,5,6 To our knowledge, no data regarding the ultrasonographic demonstration of the number of fetal ribs have been reported.…”

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confidence: 99%

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Abnormal Number of Fetal Ribs on 3-Dimensional Ultrasonography

Gindes

Benoit

Pretorius

et al. 2008

Journal of Ultrasound in Medicine

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Objective. The purpose of this study was to describe the clinical importance of an abnormal number of fetal ribs. Methods. A retrospective study of all fetuses that were found to have an abnormal number of ribs during routine ultrasonographic examinations was performed. Volume data sets of the fetal ribs were acquired by either static 3‐ or 4‐dimensional volume contrast imaging in plane C. In all cases, a meticulous survey of the fetal anatomy was performed, and prenatal and postnatal records were reviewed. Results. Seventy‐five fetuses were found retrospectively to have an abnormal number of ribs. Ultrasonographic examinations were done between 14 and 31 weeks' gestation (mean, 21.8 weeks; median, 23 weeks). More than 24 ribs were found in 28 fetuses (37%), and fewer than 24 ribs were found in 47 (63%). Additional anomalies were found in 22 fetuses (29%). Cardiovascular anomalies were detected in 10 fetuses. Seven fetuses had renal anomalies. Two fetuses had mild ventriculomegaly, and 1 fetus had holoprosencephaly. Lung dysplasia was found in 2 cases. One fetus had enlarged nuchal translucency with wormian bones. Termination of pregnancy was performed in 3 cases because of major malformations. The other 19 fetuses with associated abnormalities and the 53 without associated anomalies were born alive with only minor anomalies. Conclusions. An abnormal number of fetal ribs is an isolated finding in most cases. It may also be seen with major anomalies; however, more frequently the anomalies are minor, and the overall prognosis is good.

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Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy

Abstract: Spondylocostal dysostosis (SCD) is

Cited by 11 publications

References 11 publications

Prenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations

Prenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

Abnormal Number of Fetal Ribs on 3-Dimensional Ultrasonography

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