32 results found
Article
Spina bifida
Spina bifida is a type of neural tube defect/spinal dysraphism which can occur to varying degrees of severity. It is often considered the most common congenital CNS malformation.
Terminology
Spina bifida in its strictest sense means defective fusion of the vertebral posterior elements, leading...
Case
Spina bifida: myeloschisis with Chiari II - prenatal diagnosis
Published
17 Apr 2018
94% complete
Ultrasound
Case
Acrania, exencephaly and spina bifida
Published
15 Jun 2017
75% complete
Ultrasound
Article
Rachischisis totalis
Rachischisis totalis, also known as complete spina bifida, refers to a severe form of spina bifida where there is a cleft through the entire spine.
Pathology
There is often a severe or complete defect of the neural tube involving the entire spine from the cervical region through to the sacrum....
Article
Banana sign (cerebellum)
The banana sign is one of the many notable fruit inspired signs.
This sign is seen on axial imaging through the posterior fossa of fetuses with associated conditions such as Chiari II malformation and/or spina bifida.
In Chiari II malformation, the banana sign describes the way the cerebellum...
Article
Spinal dysraphism
Spinal dysraphisms refer to a broad group of malformations affecting the spine and/or surrounding structures in the dorsum of the embryo. They are a form of neural tube defect.
Pathology
The neural tube is formed by the lengthwise closure of the neural plate, in the dorsum of the embryo.
The ...
Article
Lemon sign
The lemon sign, noted on antenatal imaging, is one of the many notable fruit-inspired signs. It is a feature when there appears to be an indentation of the frontal bone (depicting that of a lemon). It is classically seen as a sign of a Chiari II malformation and also seen in the majority (90-98%...
Article
Craniorachischisis
Craniorachischisis, also known as craniorachischisis totalis, is a rare birth defect and the most severe of the neural tube defects. It refers to the presence of both anencephaly and spina bifida.
Epidemiology
In one study the prevalence of craniorachischisis was 0.51 per 10,000 live births in...
Article
Chiari II malformation
Chiari II malformations are relatively common congenital malformations of the spine and posterior fossa characterized by myelomeningocele (lumbosacral spina bifida aperta) and a small posterior fossa with descent of the brainstem, cerebellar tonsils, and vermis through the foramen magnum. Numero...
Article
Fetal MRI
Fetal MRI allows for detailed imaging of the developing fetus in utero. Fast sequences are required due to fetal movement 1. Fetal MRI is most commonly utilized when ultrasound findings are equivocal. Fetal anatomy can be evaluated in detail including the brain, upper aerodigestive tract, thorax...
Article
Neural tube defects
Neural tube defect (NTD) refers to the incomplete closure of the neural tube in very early pregnancy, resulting in cranial defects or spinal dysraphism.
The neural tube comprises a bundle of nerve sheath which closes to form brain caudally and spinal cord rostrally. The closure should occur at ...
Article
Edwards syndrome
Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy 13), make up the only three autosomal trisomies to be compatible with extrauterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.
Epidemiology
...
Article
Cephalocele
Cephalocele refers to the outward herniation of CNS contents through a defect in the cranium. The vast majority are midline.
Epidemiology
The estimated incidence is 0.8-4:10,000 live births 13 with a well recognized geographical variation between types; however, this has been speculated to be ...
Article
Congenital talipes equinovarus
Congenital talipes equinovarus is considered the most common anomaly affecting the feet diagnosed on antenatal ultrasound.
Terminology
While some use talipes equinovarus and clubfoot synonymously, in certain publications, the term clubfoot is considered a more general descriptive term that des...
Article
Patau syndrome
Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy.
Patau syndrome, Down syndrome (trisomy 21), and Edwards syndrome (trisomy 18) are the only three trisomies compatible with extrauterine life. However, few infants with either Patau or Edwards syndrome l...
Article
Fetal conditions associated with maternal diabetes
There are numerous fetal congenital anomalies associated with maternal diabetes.
They include
cardiac: congenital cardiac anomalies
ventricular septal defect (VSD) 5
conotruncal anomalies
transposition of the great arteries (TGA)
truncus arteriosus
fetal congestive cardiac failure (witho...
Article
Roberts syndrome
Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.
Clinical presentation
general
intrauterine growth restriction
postnatal growth retardation
failure to thrive
thrombocytope...
Article
Anencephaly
Anencephaly is the most severe form of cranial neural tube defect and is characterized by an absence of cortical tissue (although the brainstem and cerebellum may be variably present) as well as an absence of the cranial vault. The morphological spectrum within anencephaly ranges from holocrania...
Article
Myelomeningocele
Myelomeningocele, also known as spina bifida cystica, is a complex congenital spinal anomaly that results in spinal cord malformation (myelodysplasia).
Epidemiology
It is one of the commonest congenital CNS anomalies and thought to occur in approximately 1:500 of live births 5. There may be a...
Article
Obstetric curriculum
The obstetric curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core obstetric knowledge.
Definition
Topics pertaining to the normal and abnormal pregnancy, the gravid uterus and fetal environment, placenta, normal fetal development and fet...