Test 2 Flashcards
when does fetal face development begin?
week 4 of gestation
when does completion of major events occur with the face?
12 weeks gestation
what do the complex process involve in the fetal face?
- ectoderm
- mesoderm
- endoderm
- neural crest cells
what are the 5 prominences that form the fetal face?
Frontonasal Lateral nasal Medial nasal Maxillary Mandibular
what is in the frontonasal prominence?
forhead and dorsum apex of nose
what is in the lateral nasal prominence?
nasal ala
what is in the medial nasal prominence?
nasal septum
what is in the maxillary prominence?
upper cheecks and upper lip
what is in the mandibular prominence?
lower cheeck, lower lip, and chin
what is seen on the sagital veiw of the fetal face?
nasal bone and madible
what is seen on the modified sagital veiw of the fetal face?
palate and ears
what is seen on the coronal veiw of the fetal face?
orbit and lens
what is seen on the modified coronal veiw of the fetal face?
nose and lips, palate
what is seen on the transverse veiw of the fetal face?
mandible, maxillary, orbits
what is in the profile image?
Forehead Nasal Bone Nasal tip Upper lip Lower lip Chin Anterior neck
facial angle decreases with what?
an increase in CRL
when measuring fetal facial angle, how do we modify our image?
magnify so fetal head and thorax occupy the whole image
what is the mid-sagital view of the face defined by?
- Presence of the echogenic tip of the nose
- Rectangular shape of the palate anteriorly
- Translucent diencephalon in the centre
- Nuchal membrane posteriorly.
how is the facial angle measured?
Between a line along the upper surface of the palate and a line along the upper corner of the anterior aspect of the maxilla extending to the external surface of the forehead, represented by the frontal bones.
what does an increase in facial angle mean?
increased risk of triploidy
what is encephalocele?
Abnormal protrusion of the brain and/or meninges through a defect in the skull or calvarium
what is encephalocele associated with?
hypertelorism and midline facial clefting (an opening or gap in theface, or a malformation of a part of the face).
what is proboscis?
A trunk-like soft tissue appendage situated between the orbits
what is proboscic associated with?
alobar holoprosencephaly
what is cyclopia?
fetus has only one single orbital fossa
what is Dacryocystocele?
congenital obstruction of the nasolacrimal duct, resulting in cystic dilatation of the proximal part of the duct
what is hypotelorism?
Abnormally small distance between the orbits
-decreased inter-orbital diameter
what is hypotelorism associated with?
- Alobar holoprosencephaly
- Cyclopia (single midline eye)
- Absence of the nose
- Proboscis
- Trisomy 13 (also 18 and 21)
what is hypertelorism?
Increased separation of the orbits
-Abnormal increase in inter-orbital diameter
what is hypertelorism associated with?
anterior encephaloceles
what is anophthalmia?
unilateral or bilateral absence of the eye
anophthalmia demonstrates an orbital diameter below what?
5th percentile for gestatonal age
hypoplastic or absent nasal bone is seen with increase of what?
incidece with trisomy 21
why does cleft lip and cleft palate happen?
Usually result from the failure of the fusion of the medial nasal prominences and the maxillary prominences
what is cleft lip and palate associated with?
- chromosomal anomalies (trisomy 13 and 18)
- structural abnormalties (heart, CNS)
- familial (recurrance risk dependant on the number of family members affected)
what does a cleft lip involve?
opening from the upper lip to one or both nostrils
with a cleft in the palate, the opening in the roof of the mouth is__________
split
macroglossia
enlarged tongue
how may macroglossia appear?
protuberant extending from the oral cavity
what is macroglossia associated with?
Beckwith-Wiedemann Syndrome -Macrosomia -Macroglossia -Omphalocele -anomalies Trisomy 21
Micrognathia
small chin
Retrognathia
poorly displaced chin
-associated with trisomies 13 and 18
Agnathia
absence of the lower jaw
what is Agnathia associated with?
otocephaly
what are improper alignment of the ear associated with?
- noonan syndrome
- trisomies
what are thickened NT in 1st trimester associated with?
- Fetal aneuploidy
- Cardiac defects
- Other major malformations
- Adverse pregnancy outcomes
what is nuchal fold thickening?
abnormal thickening of the fetal skin in the dorsal portion of the neck
how to meaure nuchal fold?
outer edge of occipital bone to the outer edge of the skin
what measurement is associated with increased risk of trisomy 21 with NF?
over 6mm
what kind of malformation is a cystic hygroma?
lymphatic malformation
what is a cystic hygroma?
septated fluid collecton behind the fetal neck
what is cystic hygroma associated with?
- Turner Syndrome (XO)
- Chromosomal abnormalities
- Cardiac structural abnormalities
what is the most common tumour in neonates?
teratomas
where are most teratomas located?
sacrum or coccyx (5% arise in the neck)
what is a cystic teratoma?
Complex masses composed of both cystic and solid elements
what does a cystic teratoma look like?
- May have regions of calcifications
- Solid components are vascular
- May involve the thyroid gland
- May impinge on the airway, interfere with fetal swallowing and result in polyhydramnios
- May cause hyperextension of fetal neck
- May protrude from the mouth
Neural tube defects (NTD) may be either _________
open (increases Maternal Serum AFP and amniotic fluid AFP) or closed.
what is macrocephaly?
larger than expected head size
why may macrocephaly occur?
family history of large heads
what is the goal of macrocephaly when scanning?
Exclude any intracranial abnormalities that may cause an increase in fetal head size
Ex. hydrocephalus, intracranial tumour or macrosomia.
what is microcephaly?
smaller than expected head
what distinguishes microcephaly from anencephaly and encephalocele?
intact calvarium
what is microcephaly accociated with?
abnormal neurologic and subnormal intellectual development
what is the etiology of microcephaly?
Fetal infections
Anoxia
Chromosomal abnormalities
what are the key sonographic features of microcephaly?
-An abnormally small head size, defined as a BPD or HC 2 or 3 standard deviations below the mean expected for GA (usually 3 SD below the mean)
-Abnormal fetal biometric ratio (3 or more SD) may also be helpful for the sonographic diagnosis of microcephaly.
High FL/HC
Low HC/AC
what is brachycephaly?
head is rounder than usual
what is brachycephaly associated with?
multiple pregnancy (intrauterine crowding)
what is dolichocephaly?
-Narrow BPD and a long occipitofrontal diameter (OFD)
what is dolichocephaly associated with?
oligohydramnios but can be due to Breech position
what is the lemon sign?
Describes a fetal head with bilateral denting of the frontal bones
what is lemon sign associated with?
spina bifida
what is the clover leaf skull?
describes a tri-lobes appearance of the head
what is clover leaf skull associated with?
- thanatophoric dysplasia
- homozygous achondroplasia
what is a strawberry skull?
describes a fetal head with a normal BPD and a narrow frontal diamter
how is strawberry shaped skull different from lemon sign?
Similar to Lemon Sign except for no obvious concavity to the frontal bones
what is strawberry shaped skull associated with?
Tri 18
what is spalding sign?
Describes a flattened and misshapen fetal head with overlapping of cranial bones
what is spalding sign associated with?
fetal demise
when may fetal demise happen with spalding sign?
estimates place the precise time of fetal death at about 4–7 days before overlapping and separation of the fetal skull bones appear.
what should the normal fetal scalp thickness be?
<3mm
what is scalp edema?
Manifestation of fetal hydrops and is seen as scalp thickening
(>3mm)
what are choroid plexus cysts?
Cysts arise from neuroepithelial folds in the choroid plexus
what is the most common site for chorios plexus cysts?
arterial region of lateral ventricle
what is the typical appearance of choroid plexus cysts?
- Unilateral
- Spherical anechoic
- Relatively small (Range: 1 to 20 mm)
when are choroid plexus cysts usually seen?
16-24 weeks gestation
what is the treatment for choroid plexus cysts?
majortiy regress and disappear spontaneously
what may choroid plexus be associated with?
tri-18 and tri-21
true or false, agenesis of the corpus collosum is only complete?
false, can be partial or complete
what is agenesis of the corpus collosum most commonly associated with?
Dandy Walker Malformation (DWM)
what are the key sonographic features of agenesis of the corpus collosum (ACC)?
- Absence of cavum septum pellucidum
- Colpocephaly (Disproportionate prominence of the occipital horns of the lateral ventricles).
what excludes ACC?
presence of CSP
what is the best view to diagnose ACC?
midline sagital view
what are intracranial calcifications (ICC) most commonly the result of?
Cytomegalovirus (CMV)
fetal viral infection
where are ICC’s most often located?
bordering the wall of the lateral ventricles
what are ICC’s associated with?
brain tumor-teratoma
what do ICC’s appear as?
abnormal aggregates of high amplitude echoes with or without acoustic shadowing depending on beam resolution
what is a frequent complication of brain tumors?
hydracephalus
descrie teratoma
- Most common
- Contain a wide variety of tissue types
- Benign but have malignant potential
- May resemble a hemorrhage
what is the vein of Galen or straight sinus?
major draining vein that lies in the transverse fissure within the subarachnoid space - posterior and slightly superior to the thalami.
descrobe the vein of galen aneurysm?
A congenital aneurysm of the vein of Galen is a very uncommon anomaly but one with a pathognomonic sonographic and Doppler appearance. (if you see this sign, you know is the vein of galan anerysum)
what is a pathognomonicsign?
a particular sign whose presence means that a particular disease is present beyond any doubt.
how does a vein of galen aneurysm appear?
- fusiform median cyst in the region of the transverse fissure immediately superior to the cerebellum
- Doppler evaluation of the aneurysm demonstrates abnormal, turbulent Doppler signals within the aneurysm
characteristic doppler signals associated with shunting?
- turbulent
- high velocity
- low resistance flow between the feeding artery and the draining vein
what is acrania?
Acrania is identified on U/S by absence of normal cranial vault with a normal appearing or disorganized brain above the orbits (Seen best: sagittal midline CRL view of the fetus).
what are differential diagnosis of acrania?
conditions in which the cranial bones are absent or lack mineralization:
- Amniotic band sequence
- Large encephaloceles
- Osteogenesis imperfecta
- Hypophosphatasia
what is anencephaly?
Absence of the cranial vault, cerebral hemispheres and diencephalic structures and replaced by a flattened amorphous vascular mass
what is present in anencephaly?
facial structures and orbits
what is the most reliable sonographic sign of anencephaly?
Failure to identify normal cranial morphology and brain tissue above the orbits
what is a sign of anechaphy?
exophthalmos
what is cephalocele?
herniation of intracranial structures through a defect in cranium
what is a cranial meningocele?
If the cephalocele contains only meninges and CSF
what is an encephalocele or meningoenceohalocele?
If the cephalocele also contains brain tissue
do cephaloceles covered by normal scalp tissues cause an increase in maternal AFP?
no
what is the sonographic feature of encephalocele?
cystic mass at the surface of the skull, typically in the midline.
what are the differential diagnosis of Cephalocele and Encephalocele?
- Cystic hygroma
- Branchial cleft cyst (epithelial cyst that arises on the lateral part of the neck due to failure of obliteration of the second branchial cleft)
- Epidermal scalp cyst
- Cervical teratoma
- Scalp edema or cephalohematoma (hemorrhageofbloodbetween theskulland theperiosteum)
- Dacryocystocele: result of narrowing nasolacriminal duct
what is Ventriculomegaly?
Dilation of the cerebral ventricles without defining the cause. Fetal head is normal, enlarged, or even small for GA
what are the most common causes of ventriculomegaly (VM)?
- Arnold-Chiari malformation (the 3rd and 4th ventricle and both lateral ventricles are dilated)
- Open neural tube defects
- Congenital double aqueductal stenosis (3rd ventricle and both lateral ventricles)
- Dandy-Walker malformation
is Ventriculomegaly usually bilateral or unilateral?
bilateral
what is the best indicator of VM?
atrial measurment
what is Hydrocephalus or Hydrocephaly?
Increased intracranial pressure usually due to a lesion causing obstruction of the Cerebrospinal Fluid (CSF) pathway
what is holoprosencephaly?
It is the failure of division of the prosencephalon (fore brain) resulting in varying degree of prosencephalon midline defects.
- Incomplete separation of the two hemispheres.
what is the clinical presentation of holoprosencephaly?
It is usually obvious at birth even if antenatal diagnosis has not been made, due to associated midline facial anomalies including:
- Proboscis
- Cyclopia
- Cleft lip and / or palate
- Ocular hypotelorism
- Solitary median maxillary central incisor
what is holoprosencephaly associated with (aneuploidic)?
- MOST COMMONLY trisomy 13
- trisomy 18
what is holoprosencephaly associated with (non-aneuploidic)?
- Congenital renal anomalies
- Congenital cardiac anomalies
- Diabetic embryopathy
- Facial anomalies
- Shprintzen syndrome
describe what Alobar holoprosencephaly is?
- Thalami are fused
- Single large posteriorly located ventricle
what is alobar holoprosencephaly associated with?
facial abnormalities such as:
- cyclopia
- ethmocephaly
- cebocephaly
- median cleft lip.
what is semi-lobar holoprosencephaly?
- Basic structure of the cerebral lobes are present: most commonly fused anteriorly and at the thalami
- Olfactory tracts and bulbs are usually not present
- Agenesis or hypoplasia of the corpus callosum.
what is Lobar holoprosencephaly?
- Least affected sub type
- More subtle areas of midline abnormalities such as: fusion of the cingulate gyrus and thalami
- Olfactory tracts are absent or hypoplastic
- May be hypoplasia or absence of the corpus callosum
what is the prognosis of holoprosencephaly?
The prognosis is dependant on the type of holoprosencephaly - almost all alobar and semilobar forms incompatible with a extra uterine life.
what is the most common holoprosencephaly?
alobar
what does alobar holoprosencephaly have an absent of?
midline structures (falx cerebri, corpus collosum, septi pellucidi)
what is alobar holoprosencephaly associated with?
tri-13
what is the sonographic findings of holoprosencephaly?
- Enlarged monoventricular cavity with fused thalami with absence of the supra tentorial midline structure.
- Choroid plexus is usually compressed and difficult to visualize.
what is Hydranencephaly characterized by?
Gross ventriculomegaly due to complete or near complete absence of cerebral tissue
is Hydranencephaly related to hyracephalus and anencephaly?
no
what does Hydranencephaly appear as?
Absence of the cerebral hemispheres with an incomplete or absent falx and a sac-like structure containing cerebral spinal fluid surrounding the brainstem and basal ganglia.
what is not affected in Hydranencephaly?
- brain stem
- cerebellum
- cisterna magna
what is the key sonographic feature for Hydranencephaly?
large cranial fluid collection lacking a mantle or rim of cerebral brain tissue (which is present in hydrocephalus).
what is Schizencephaly?
Clefts in the cerebral mantle (usually bilateral), lined by pia-ependyma, with communication between the ventricles and subarachnoid space.
what could Schizencephaly be the result of?
middle cerebral artery infarction or focal migration disorder
what does Schizencephaly look like?
Pie-shaped areas of cystic necrosis extending to the calvarium
what is Schizencephaly associated with?
- absence of septum pellucidum
- septo-optic displasia
- dysgeneresis of corpus callosum
what is dandy-walker malformation (DWM) and varients?
complete agenesis of cerebellar vermis resulting in a large central posterior fossa cyst, which communicates with the fourth ventricle (dilated).
what is DWM associated with?
other CNC abnormalities including hydrocephalus (80% of cases) and agenesis of the corpus collosum
what are the features of DWM?
A malformation of the roof of the fourth ventricle and of the cerebellum. The cerebellum is poorly developed and is displaced upwards and laterally.
-The enlarged fourth ventricle balloons out backward and is grossly misshapen
what is DWM associated with?
atresia of the foramen of Magendie and, possibly, the foramen of Luschka
what do true retrocerebellar arachnoid cysts do?
displace the fourth ventricle and cerebellum anteriorly and show significant mass effect
what are retrocerebellar arachnoid cysts?
benign cysts that occur in the cerebrospinal axis in relation to the arachnoid membrane and that do not communicate with the ventricular system
what are primary (congenital) arachnoid cysts?
result from benign accumulation of clear fluid between the dura and the brain substance throughout the CNS - related to the arachnoid membrane and do not communicate with the subarachnoid space
what are secondary (aquired) arachnoid cyst?
result from haemorrhage, trauma, and infection and usually communicate with the subarachnoid space
what are Porencephaly (Porencephalic Cysts)
Extremely rare congenital disorder
Results in cystic degeneration and encephalomalacia and the formation of porecephalic cysts
what are what are Porencephaly (Porencephalic Cysts) caused by?
infarction or hemorrhage into brain parenchyma due to insult in utero (abruption, trauma, infection) causing focal or widespread ischemia
Porencephaly (Porencephalic Cysts) are a less sever form of?
hydranencephaly
what is arnold-chiari malformation characterized by?
prolapse of hindbrain structures below the level of the foramen magnum
what is type 1 of arnold-chiari malformation?
just a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This is mainly an incidental CT discovery.
what is type 2 of arnold-chiari malformation?
: usually involved in prenatal cases and is a congenital deformity characterized by displacement of cerebellar tonsils, parts of the cerebellum, fourth ventricle, pons, and medulla oblongata through the foramen magnum into the spinal canal
in 95% of arnold-chiaari malformations what is it accompanied by?
hydrocephalus and myelomeningocele.
what is type 3 of arnold-chiari malformation?
more severe form, with large herniation of the posterior fossa content and myelomeningocele and hydrocephalus.
what is banana sign associated with?
arnold-chiari malformation
what are associated anomalies for arnold-chiari malformation?
- Hydrocephaly from obstruction of the foramina of Magendie
- Syringomyelia
- Diastematomyelia
what are most congenital spinal problems a result of?
defective closure of the neural tube during 4TH WEEK of embryonic development
what do neural tube defects (NTD’s) also involve?
tissues overlying the spinal cord:
- meninges
- vertebral arch
- muscles
- skin
what do neural tube defects elevate?
AFP
what is spinal dysraphism?
is a broad medical term given to a group of anomalies that relate to:
- Malformations in the dorsum of the embryo.
- Neurological disorders related to malformations of the spinal cord.
what are some neurological disorders related to malformations of the spinal cord?
- NTDs fall under this group.
- Failed fusion of dorsal spinal elements.
- The spinal cord may become excessively wide because of abnormal fat or fibrous tissue lying inside the spinal canal.
- Leg, bladder, or bowel function may also be affected.
open spinal dysraphism?
- Meningocele
- Myelomeningocoele
closed spinal dysraphism?
- Spinal dermal sinus
- Lipomyelomeningcoele
- Diastematomyelia
- Neurentric cysts
- Thickened filum terminale
Spinal dermal sinus
an epithelium-lined tract from the skin to the spinal cord, cauda equina, or arachnoid.
Lipomyelomeningcoele
usually presents as a subcutaneous fatty mass just above the intergluteal cleft.
Diastematomyelia
split cordmalformation
Neurentric cysts
type offoregut duplication cyst, associatedeitherwith vertebral or CNS abnormalities. They most commonly occur in the thoracic region.
Thickened filum terminale
thickened fatty filum terminale
what is tight filum terminale syndrome caused by?
incomplete involution of the distal spinal cord during embryogenesis.
what does tight filum terminale syndrome lead to?
development of an abnormally thickenedfilum terminale, which may be associated with lipomas or cysts within the filum
what is tight filum terminale syndrome always associated with?
spinal cord tetheringand an abnormally positioned conus medullaris: below L2-3 (normal range: L1-L2)
what are the clinical symtoms of tight filum terminale syndrome?
Neurologic deficiencies, pain or dysesthesia, and bladder or bowel dysfunction.
-Due to stretching of the spinal cord resulting in vascular insufficiency at the level of theconus medullaris.
what are common findings for tight filum terminale syndrome?
associated verterbral body deformities and spina bifida
what does tight filum terminale syndrome show on US?
- abnormally thickened filum terminale
- the diameter of the filum terminale exceeds 2 mm (normal range, 0.5–2 mm) at the level of L5-S1
what is tethered spinal cord a form of?
spinal dysraphism
what happens in tethered spinal cord?
spinal cord is attached to surrounding tissue
how is tethered spinal cord diagnosed?
detection of certain skin abnormalities along the midline of the back.
what is spina bifida?
Neural tube defects (NTDs) involving the vertebral arches
what are common to all types of spina bifida?
Non-fusion of the embryonic halves of the vertebral arches
what is spina bifida occulta?
closed
- Dorsal vertebrae not fused (but no underlying structures protrude through defect)
- Often tuft of hair/dermal lesion over affeced area
what is spina bifida aperta=cystica?
open
-defect of skin, underlying soft tissue, and vertebral arches
Meningocele
meningeal membrane and CSF protrude through defect in vertebral arch (note: skin mostly intact)
Myelomeningocele
meningeal membrane, CSF, and neural tissue (spinal cord) protrude through defect (note: skin partly covers defect)
Myeloschisis
open, flattened spinal cord, exposed through a wide defect in the posterior neural arch + defect in musculature and skin (no skin or meningeal covering
Rachischisis
Complete Spina Bifida) – cleft through entire spine from cervical to sacral region – open, flattened spinal cord (note: entire spinal cord is exposed)
what is the indication if spina bifida occulta (closed)?
dimple, tuft of hair, or a red mark on the back
what is the most severe and common spina bifida?
myelomeningocele
Cystica
Involving protrusion of the meninges and spinal cord through the defect in the posterior vertebral arch.
Spina Bifida with meningocele
If the mass contains only meninges with CSF
what is the mildest form of spina bifida?
cystica
where do the meninges protrude in cystica?
Meninges protrudeunder the skinthrough the cleft in the malformedvertebral arch
Spina Bifida with meningomyelocele
If the spinal cord and/or nerve roots protrude in the mass
what is the most severe form of myelomeningocele?
spina bifida with myeloschisis
what does myeloschisis appear as?
a flattened, plate-like mass of nervous tissue with no overlying membrane.
what can myeloschisis result in?
some degree ofparalysisand loss of sensation below the level of the spinal cord defect
what is the most severe form of spina bifida aperta?
myeloschisis (rachischisis)
how does myeloschisis (rachischisis)appear?
nerve tissue is fully bare and a dermal or meningeal covering is absent
what do many individuals with spina bifida have?
an associated abnormality of thecerebellum, called theArnold Chiari II malformation.
in 90% of people with myelomeningocele, what may occur with the brain?
hydrocephalus because of displaced cerebellum interfering with normal flow of cerebrospinal fluid
with spina bifida the ___________ is abnnormally developed in 70-90% of individuas?
corpus collosum
what are the sonographic signs of spina bifida?
- Nonvisualization of cisterna magna
- Deformation of cerebellum (banana sign)
- Concave frontal bones (lemon sign)
- Dilation of lateral ventricles
- Chiari II malformation (97%)
- Biparietal diameter lower than expected
how does the banana sign happen?
produced by the caudal shift of the posterior contents of the skull, forcing the cerebellar hemispheres to wrap around the brain stems.
what is spinal curvature most frequently associated with?
NTD and spinal bifida meningomyelocele
scoliosis
lateral curvature of the spine
Kyphosis
refers to an exaggerated rounding of the back in the sagittal plane.
Hemivertebra
a type of vertebral anomaly and results from a lack of formation of one half of a vertebral body.
what is a Sacrococcygeal Teratoma?
Tumours that arise from embryonic cells of the coccyx.
what are the most common congenital tumors in the newborn?
Sacrococcygeal Teratoma
what do Sacrococcygeal Teratoma appear as?
Most are large, external and solid or complex masses that extend outward from the lower part of the sacrum and buttock.
are Sacrococcygeal Teratomas benign or malignant?
bengin
what are Sacrococcygeal Teratomas not associated with?
- Are not associated with a distinct vertebral abnormality
- Are not associated with cranial abnormalities
what is caudal regression syndrome?
Spinal abnormalities include grossly distorted or absent vertebrae beginning at the thoracic level (sacral agenesis).
what is caudal regression syndrome (CRS) strongly associated with?
poorly controlled diabetes
what does sacral agenesis present as?
- Caudal regression sequence or sacral agenesis (abnormal fetal development of the lower spine)
- Sirenomelia sequence (legs are fused together)
- Cloacal exstrophy sequence (defect of the ventral body wall)
- VACTERL association
what is vacterl associatation?
- vertebral anomalies
- imperforate anus
- cardiac malformations
- tracheoesophageal fistula
- renal dysplasia
- limb abnormalities
spinal arachnoid cyst?
benign cystic lesions formed due to splitting of the arachnoid membrane