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