scholarly journals Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold-Chiari Malformation and a 3q Duplication

2021 ◽  
Vol 2 (3) ◽  
pp. 118-123
Author(s):  
Olivier Leroij ◽  
Lennart Van der Veeken ◽  
Bettina Blaumeiser ◽  
Katrien Janssens
Keyword(s):  
Spina Bifida ◽  
Ultrasound Examination ◽  
Imaging Techniques ◽  
Marker Chromosome ◽  
Fetal Mri ◽  
Prenatal Ultrasound ◽  
Dermal Sinus ◽  
Arnold Chiari Malformation ◽  
Cerebral Anomalies ◽  
Open Spina Bifida

We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a spina bifida, other imaging techniques together with genetic tests and measurement of alpha-fetoprotein in the amniotic fluid should be performed.

Towards Detecting Open Spina Bifida in the First Trimester: The Examination of the Posterior Brain

2015 ◽  
Vol 37 (4) ◽  
pp. 294-300 ◽  
Author(s):  
Dimitra Kappou ◽  
Ioannis Papastefanou ◽  
Athanasios Pilalis ◽  
Ioannis Kavalakis ◽  
Dimitrios Kassanos ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Ultrasound Examination ◽  
First Trimester ◽  
Current Evidence ◽  
Reference Ranges ◽  
R Ratio ◽  
Intracranial Translucency ◽  
Obstetric Population ◽  
A Prospective Study ◽  
Open Spina Bifida

Introduction: Our aim was to examine the value of indirect signs of open spina bifida in the mid-sagittal view of the posterior brain at the 11-13 weeks' ultrasound examination and to summarize the current evidence for the first-trimester diagnosis of spina bifida. Methods: This was a prospective study in routine obstetric population. The presence of four almost parallel lines (four-line view) in the posterior brain was recorded. Biparietal diameter (BPD), intracranial translucency (IT) and cisterna magna (CM) were measured. The ratio of IT to CM (R ratio) was calculated. Results: 2,491 pregnancies were examined prospectively. Updated reference ranges for IT and CM were constructed. There were 3 cases with open spina bifida, and the four-line view was abnormal in 2 of them. The abnormal fetuses had smaller BPD as well as pronounced reduction in the CM and increase in the R ratio. Discussion: Examination of the posterior brain was feasible in all fetuses in the setting of the routine 11-13 weeks' ultrasound examination. Indirect signs of spina bifida are visible in the mid-sagittal view of the posterior brain, and the assessment of these structures can be a reliable tool in the early identification of this abnormality.

Can prenatal ultrasound findings predict ambulatory status in fetuses with open spina bifida?

2001 ◽  
Vol 185 (5) ◽  
pp. 1016-1020 ◽  
Author(s):  
Joseph R. Biggio ◽  
John Owen ◽  
Katharine D. Wenstrom ◽  
W.Jerry Oakes
Keyword(s):  
Spina Bifida ◽  
Prenatal Ultrasound ◽  
Ambulatory Status ◽  
Ultrasound Findings ◽  
Open Spina Bifida

scholarly journals Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.

2017 ◽  
Vol 19 (1) ◽  
pp. 66 ◽  
Author(s):  
Costin Berceanu ◽  
Ioana Andreea Gheonea ◽  
Simona Vlădăreanu ◽  
Monica Mihaela Cîrstoiu ◽  
Radu Vlădăreanu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Multicentre Study ◽  
Skeletal Dysplasia ◽  
Ultrasound Examination ◽  
Fetal Mri ◽  
Prenatal Ultrasound ◽  
Comprehensive Approach ◽  
Biochemical Abnormality ◽  
Fetal Medicine ◽  
Ultrasonographic Assessment

Aim: To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination. Fetal MRI was accomplished for selected cases. Results: Nonlethal skeletal dysplasia was suspected and then diagnosed after 17 gestational weeks. The suspicion of osteochondrodysplasia as a reference diagnosis element has required systematic and thorough ultrasound examination. Fetal MRI is a valuable exploration, complementary to prenatal ultrasound bringing in very useful details for the diagnosis of osteochondrodysplasias. The global diagnosis of skeletal dysplasia depends to a great extent on the genetic or biochemical abnormality that causes them. Conclusions: US is always the fundamental screening exploration for fetal assessment in nonlethal osteochondrodysplasias. The details brought by the fetal MRI are useful, and the exploration is harmless for the fetus and the mother. Certain diagnosis cannot be accurate and complete without the contribution of genetics, maternal and fetal medicine, obstetrics or radiology. 

Experience of prenatal diagnosis of true knots of the umbilical cord during ultrasound examination in the third trimester of gestation

2019 ◽  
Author(s):  
M.Y. Morozova, V.V. Zotov, M.S. Kovalenko et all
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Ultrasound Examination ◽  
Technological Advance ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Review Of The Literature ◽  
Third Trimester ◽  
The Third

Despite the rapid technological advance, the expansion of prenatal ultrasound diagnosis, as well as the accumulation of experience by both domestic and foreign experts, prenatal recognition of true knots of the umbilical cord causes significant difficulties. Three cases of successful ultrasound diagnosis of true knots of the umbilical cord and brief review of the literature are presented.

The case of prenatal ultrasound diagnosis of fibular hemimelia, type I associated with oligodactyly of the foot in the second trimester of gestation

2020 ◽  
Author(s):  
I.N. Daminov
Keyword(s):  
Ultrasound Examination ◽  
Lower Extremities ◽  
Lower Leg ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Type I ◽  
Second Trimester ◽  
Prenatal Counseling ◽  
External Examination ◽  
Fibular Hemimelia

A case of prenatal ultrasound diagnosis of fibular hemimelia, type I associated with oligodactyly of the foot at 22 weeks of gestation is presented. Ultrasound examination at 22 weeks of gestation revealed hypoplasia of the left fibula and the foot oligodactyly. After prenatal counseling, the patient opted for termination of pregnancy. During external examination of the abortus asymmetry of the lower extremities due to shortening of the left lower leg and oligodactyly of the left foot were noted, those confirmed prenatal ultrasound data.

scholarly journals Secondary Myelitis in Dermal Sinus Causing Paraplegia in a Child with Previously Normal Neurological Function

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Sakina Rashid ◽  
Grace Kinabo ◽  
Marissa Kellogg ◽  
William P. Howlett ◽  
Marieke C. J. Dekker
Keyword(s):  
Congenital Anomaly ◽  
Spina Bifida ◽  
Neural Tube ◽  
Clinical Course ◽  
Acute Infection ◽  
Early Embryogenesis ◽  
The Other ◽  
Neurological Deficits ◽  
Dermal Sinus ◽  
Neurological Development

Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not uniform across the various forms of this congenital anomaly as certain presentations are not compatible with extrauterine life (anencephaly) while, on the other hand, other defects may remain undiagnosed as they are entirely asymptomatic (occult spina bifida). We report a child with previously normal neurological development, a devastating clinical course following superinfection of a subtle spina bifida defect which resulted in a flaccid paralysis below the level of the lesion and permanent neurological deficits following resolution of the acute infection and a back closure surgery.

Multiple Imaging Techniques: CSF Shunted Arnold Chiari Malformation with False???negative Brain Death Radionuclide Angiograms

1984 ◽  
Vol 9 (11) ◽  
pp. 650-653 ◽  
Author(s):  
MICHAEL F. HARTSHORNE ◽  
ROSA RAMIREZ ◽  
MICHAEL A. CAWTHON ◽  
JOHN M. BAUMAN ◽  
ROBERT D. KARL
Keyword(s):  
Brain Death ◽  
Chiari Malformation ◽  
Imaging Techniques ◽  
False Negative ◽  
Arnold Chiari Malformation ◽  
Multiple Imaging
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