fetal face and neck and neural axis

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the fetal face is complex. congental anomalies of the face affect 1 in __ births. cleft lip, hyper and hypotelorims, and micrognathia are examples: 600
many anomalies of the face and neck can be caused by maternal __. as in other investigations, the detection of subtle facial malformations depends on scanner skill, position of the fetus, amount of __ near the face, and the ability to recognize facial __: *drug use *amniotic fluid *pathology
fetal facial eval. is not routinely included in a basic fetal scan. the normal scan includes the profile, lips and nose. however when there is family history of ___ malformations or when another __ is found, the face should be screened for a coexisting: *craniofacial *congenital anomaly
many fetuses with a facial defect also have __ abnormalities. extensive facial screening may be hindered by bone __, poor fetal __, oligohydramnios, and maternal __.: *chromosomal *shadowing *positioning *obesity
facial anomalies often indicate a specific syndrome or condition. for example, orbital fusion and a proboscis suggest alobar ___. they can also be an isolated finding: holoprosencephaly
premature closure of any or all six of the cranial sutures causing the fetal cranium to become abnormally shaped: craniosynostosis
appears as an unusually misshapen skull with a clover-leaf appearance in the anterior view; bulging of the parietal bone with a prominent forehead: kleeblattschadel (clover-leaf skull)
associated with skeletal dysplasia, ventriculomegaly, and dwarfism: kleeblattschadel (clover-leaf skull)
premature closure of the metopic (frontal) sutures causing the forehead to have an elongated appearance in the sagittal plane and appear triangular shaped in the axial plane: trigonocephaly
occurs when the forehead appears enlarged and has been associated with arnold chiari, absence of the nasal bridge, anterior cephalocele, and a strawberry shaped skull: frontal bossing
depressed or absent nasal bridge; underdevelopment of the middle structures of the face; small maxillary; the flat facies that this defect produces are more easily noted with coexisting frontal bossing: mid-face hypoplasia/maxillary hypoplasia
may be seen in fetuses with chromosome anomalies, craniosynostosis syndromes, and limb and skeletal abnormalities; the fetal nasal bone may be small or absent with some chromosome anomalies, especially trisomy 21: mid-face hypoplasia/maxillary hypoplasia
median cleft face syndrome consisting of a range of midline facial defects involving the eyes, forehead, and nose; abnormalities include ocular hypertelorism, a variable bifida nose, broad nasal bridge, midline defect of the frontal bone, and extension of: frontonasal dysplasia/median cleft face
what is the primary us finding of frontonasal dysplasia?: hypertelorism
if one cranial abnormality is found, the sonographer should carefully look for additional __ features: dysmorphic
rare; abnormally large tongue protruding from the mouth and may interfere with swallowing; can occur in fetuses of diabetic mothers; sonographically a persistently protruding of the tongue is seen and polyhydramnios because baby can't swallow: macroglossia
macroglossia is associated with __ syndrome.: beckwith-wiedermann syndrome
what are the three characteristics of beckwith-wiedermann syndrome: macroglossia, organomegaly, omphalocele
can be detected from profile view; small or hypoplastic mandible (chin); associated with a variety of chromosomal anomalies like trisomy 13 and 18; small mandible may interfere with swallowing and cause polyhydramnios: micrognathia
documentation of the presence of both eyes and assesment of the overall size of the eyes excludes ___ which can be bilateral or unilateral, and ___.: microphthalmia and anophthalmia
is a condition characterized by a decreased distance between the orbits; is assoc. with several syndromes and other anomalies such as holoprosencephaly, proboscis, microcephaly, trisomy 13, and craniosynostosis: hypotelorism
may be seen in cyclopia by observing closely spaced orbits or eyes within a single orbit, and in cebocephaly; measurements of orbital width may identify fetuses with ___: hypotelorism
hypotelorism and proboscis together is ___. proboscis above hypotelorism eyes is further classified as ___: cebocephaly, ethmocephaly
is characterized by abnormally widely spaced orbits; may be diagnosed by orbital distances that fall above normal ranges for GA; found in a number of abnormal fetal conditions, genetic syndromes, and chromosomal anomlies: hypertelorism
fetuses exposed to Dilantin (type of seizure medicine) during pregnancy, or have brachycephaly, trisomy 18, and frontal cephalocele are likely to have ___: hypertelorism
in a __ plane the contour of the nose, upper and lower lips, and chin is observed. this is important in assessing the presence of absence of the nose, lips,and chin: profile
__ with or without cleft palate represents the most common congenital anomaly of the face.: cleft lip
cleft means __ or __. cleft lip and cleft palate can be __ or seen together. if the maxiallary and palatine fail to fuse you will have ___: *slit or opening *isolated *both
occurs because of failure of fusion of the primary and secondary palate resulting in a clefting defect coursing anteriorly through the upper lip and alveolus; occurs when the lateral palatine processes fail to fuse in the midline: cleft palate
cleft is more common on the __ side. cleft lip and palate occur together when both fusions are __. may involve only the upper lip or may exten to involve the __, posterior hard palate, and soft palate: *left *absent *alveolus
may be unilateral or bilateral and may occur in isolation or in association with other anatomic and karyotype abnormalieties; defects range from celfting of the lip alone to involvement of the hard and soft palate, which may extend into the nose or in rar: cleft lip and palate
clefts are most commonly seen in __ first, __ second, __ third, and rarely in ___: native americans, asians, caucasians, african americans
causes may be prenatally detected include a chromosomal abnormality, amniotic band syndrome, anencephaly, congenital cardiac disease, diastrophic dysplasia (abnormal development of the skull), holoprosencephaly, and meckel=gruber syndrome: cleft
sonographically, visualization of the hard and soft palate remains a diagnostic challenge because of __; polyhydramnios may be seen because fetus may have hard time swallowing: bone shadowing
congenital anomalies of the __ are rare but when present may represent life=threatening disorders; can be anterior or lateral but most are seen posterior; are usually large and obvious because their presence causes distortion of the neck contour and adjac: neck
results froma malformation of the lymphatic system that leads to single or multiloculated lymph-filled cavities around the neck; most frequently seen with turner's syndrome: cystic hygroma
what are the three characteristics of meckel-gruber syndrome: polycystic kidneys, polydactyly, encephalocele
may present as small isolated cystic cavities with or without septations and may arise from the anterior, lateral, or posterior neck; may be small and regress because of alternate routes or lymph drainage: cystic hygroma
sono appearance: large thin-walled cystic mass in the subcutaneous tissue generally seen posterior to the neck; may also appear as multiseptated, thin-walled cystic masses near the fetal head or neck; fetal hydropos, pericardial effusion, ascites, edema,: cystic hygroma
is derived from germ cells and is composed of multiple tissues (endo ecto and mesoderm); tend to grow rapidly in gestation; usually unilateral: teratoma
prognosis of teratoma is related to these three: size of tumor, degree of vascularity, and the extent of tumor invasion
sonographically is may have a complex pattern similar to related tumors of other organs; can cause hydrops, polyhdramnios, or CHF (congestive heart failure). can be anterior or posterior: teratoma
the CNS arises from the __ neural plate around __ gestational days; the cephalic neural plate develops the __ and the caudal end forms the __. the midbrain and hindbrain then form, and the neural plate begins to fold: *ectodermal *18 *forebrain *spinal cord
the forebrain continues to develop into the ___, the midbrain becomes the __, and the hindbrain forms the __.: prosencephalon, mesencephalon, rhombocephalon
divides into the telencephalon, which becomes the cerebral hemispheres and diencephalon which eventually develops into the thalamus and hypothalamus: prosencephalon
subdivides into the metencephalong which ultimately becomes the cerebellum and pons and the myelencephalon which transforms into a portion of the medulla oblongata: rhombencephalon
transforms into the brainstem(cerebral peduncle and a bottom/caudal portion of the medulla oblongata: mesencephalon
many of the congenital malformations of the CNS result from incomplete closure of the __. a wide range of defects may affect the spine and/or brain; is the most common cause of referral for prenatal dx and causes the greatest anxiety to parents: neural tube
is the most common neural tube defect; more common in females than males; means absence of the brain, is caused by failure of closure of the neural tube at the cranial end; no skull/cranium: anencephaly
results in the absence of the cranial vault, complete or partial absence of the forebrain, which may paritally develop and then degenerate, and the presence of the brainstem, midbrain, skull base, and facial structures; is a lethal disorder with up to 50%: anencephaly
associated with elevated MSAFP; assoc. with meckel-gruber, chromosomal anomalies, diabetes mellitus, and amniotic band syndrome (can tell if saw skull in previous exam and now not there): anencephaly
sono appearance: absence of the brain and cranial vault, rudimentary brain tissue, bulging fetal orbit giving the fetus a frog-like appearance; polyhydramnios: anencephaly
is a lethal anomaly that manifests as absence of the cranial bones with the presence of complete, although abnormal, development of the cerebral hemispheres; do have brain tissue and no frog-like appearance: acrania/exencephaly
acrania occurs at the beginning of the __ gestational week when the __tissue fails to migrate and does not allow bone formation over the cerebral tissue: *4th *mesenchymal
usually progresses to anencephaly as the brain slowly degenerates as a result of exposure to amniotic fluid; may be assoc. with spinal defect, cleft lip and palate, talipes, cardiac defect, omphalocele, and amniotic band syndrome: acrania/exencephaly
sono appearance: the presence of brain tissue without the presence of a calvarium, disorganization of brain tissue, prominent sulcal marking, mickey mouse appearance: acrania/exencephaly
is a neural tube defect in which the meninges and brain herniate through a defect in the calvarium; assoc. with meckel-gruber syndrome: cephalocele (general term)
____is the term used to describe herniation of the meninges and brain through a defect. ___ describes the herniation of only meninges: encephalocele, cranial meningocele
typically involves the occipital lobe (most common) and may be located in the midline, parietal, or frontal region. associated with MSAFP, chromosomal anomalies, and facial anomalies: cephalocele
prognosis varies based on the size, location, and involvement of other brain structures and if it is a meningocele or encepholocele; the presence of brian in the defect, microcephaly, and other anomalies worsens the prognosis; an isolated cranial meningo: cephalocele
sono appearance: an extracranial mass which may be fluid filled or contain solid components; look for bone defect so as to not confuse with cystic hygroma; ventriculomegaly and polyhydramnios may be seen: cephalocele
encompasses a wide range of vertebral defects that result from failure of neural tube closure at its caudal portion; the menges and/or neural elements may protrude through this defect; teh derect may occur anywhere along the vertebral column but most comm: spina bifida (general term)
this the the second most common neural tube defect after anencephaly: spina bifida
two types of spina bifida: occulta and cystica
associated with varying degrees of neurologic impairment, whichmay include minor anesthesia (loss of sensation), paraparesis, or death; also assoc. with arnold chiari malformation type 2: spina bifida
malformation presents invaribly with hydrocephalus because of the cerebellar vermis, which becomes displaced into the cervical canal; prognosis varies greatly according to size, type, and location of defect: spina bifida
spina bifida that is covered with hair or skin; associated with normal spinal cord and nerves and normal neurologic development; is extremely difficult to detect in the fetus; normal MSAFP usually normal outcomes: spina bifida occulta
spina bifida that is not covered with hair or skin but is covered by membrane it is called ___. when the defect involves only protrusion of the meninges it's called ___. more commonly the meninges and neural elements protrude throught the defect and are: *spina bifida cystica *meningocele *meningomyelocele *rachischisis
sono appearance: splaying of the posterior ossification centers with a V or U configuration; protrusion of a saclike structure that may be anechoic (menigocele) or contain elements (myelomeningocele); a cleft in the skin; arnold chiari malformation, talip: spina bifida
flattening of the frontal bones, giving them a lemon head appearance, obliteration of the cisterna magna, inferior displacement of the cerebellar vermis, giving the cerebellum a rounded, banana shape and ventriculomegaly; assoc. with spina bifida: arnold chiari malformation
the forebrain divides into the __ and ___: telencephalon, diencephalon

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