Chapter 26 - Fetal spine & MSK system Flashcards
Rare, lethal condition resulting in abnormal development of the bones and cartilage
Achondrogenesis
A disorder that results in abrnoaml bone growth and dwarfism
Achondroplasia
Group of abnormalities associated with the entrapment of fetal parts in the amnion, often resulting in fetal amputations or clefting
Amniotic band syndrome
no amniotic fluid
Anhydroamnios
Includes bones of the upper extremities, lower extremities and pelvic girdle
Appendicular skeleton
A way in which a disorder or trait can be inherited by a fetus; at least one of the parents has to be a carrier of the gene for the disease
Autosomal Dominant disorder
Includes the bones of the cranium and spine
Axial skeleton
Syndrome associated with then absence of the sacrum and coccyx; also referred to as sacral agenesis
Caudal Regression syndrome
Protrusions of intracranial contents through a defect in the skull
Cepahlocele
The abnormal shape of the cranium caused by premature fusion of the sutures in which there is frontal bossing and a cloverleaf shape to the skull
cloverleaf skull
A malformation of the bones of the foot in which the foot is most often inverted and rotated medially, and the metatarsals and toes lie in the same plane as the tibia and fibula
Clubfoot
Abnormal short stature
Dwarfism
Denotes the abnormal development of a structure
Dysplasia
Protrusion of brain tissue through a defect in skull
Encephalocele
The angling of the frontal bone that produces an unusually prominent forehead
frontal bossing
The anomaly of the spine in which there is absence of all or part of a vertebral body and posterior element
Hemiverterba
Most common nonlethal skeletal dysplasia that is characterized by rhizomelia
Heterozygous
Achondroplasia
The fatal form of achondroplasia
Homozygous Achondroplasia
The combination of both scoliosis and kyphosis in the fetus
Kyphoscolisosis
An abnormal posterior curvature of the spine
Kyphosis
A group of disorders with sonographic findings including a short or absent umbilical cord, ventral wall defects, limb defects, craniofacial defects, and scoliosis
Limb-Body wall complex
The coverings of the brain and spinal cord
Meninges
Herniation of the cranial or spinal meninges because of an open cranial or spinal defect; contains cerebrospinal fluid but no nerve tissue
Meningocele
Mass that results from an open spina bifida that contains the spinal cord and the meninges; also referred to as a myelomeningocele
Meningomyelocele
Mass that results from open spina bifida that contains spinal cord only
Myelocele
A group of disorders that result in multiple fractures in utero; caused by decreased mineralization and poor ossification of the bones
Osteogenesis imperfecta
Absence or underdevelopment of the radius
radial ray defect
Shortening of the proximal segment of the limb
rhizomelia
The nondevelopment of the sacrum
sacral agencies
An opening in the skin over the distal spine
Sacral dimple
An abnormal lateral curvature of the spine
Scolisosis
A fetal abnormality characterized by fusion of the lower extremities, renal agenesis, and oligohydroamnios; may also be referred to as mermaid syndrome
SIrenomelia
Most common form of spina bifida; results in open lesions that are typically not covered by skin and a mass that protrudes from the spine; also referred to as open spina bifida
Spina Bfida Aperta
Closed spinal lesions that are completely covered by skin and can be difficult to identify sonographically; also referred to as closed spina bifida
Spina Bfida Oculta
A group of neural tube defects that describe some manifestation of incomplete closure of the spine
Spinal Dysraphism
Turned outward
Splay
Most common lethal skeletal dysplasia characterized by a cloverleaf skull with frontal bossing and hydrocephalus
Thanatoporic Dysplasia
a wide separation between middle and ring finger
trident hand
An acronym for a combination of abnormalities that represent vertebral anomalies, anorectal atresia, cardigan anomalies, tracheoesophageal fistula, renal anomalies, and limb anomalies
VACTERL Association
The axial Skelton begins to form between what two menstrual weeks
6 and 8
the spine consists of what 5 sections
cervical thoracic lumbar sacrum coccyx
The centrum will eventually form the
Vertebral body
The neural processes of the vertebra will eventually form into what 5 parts
Lamina, Pedicle Transverse process Spinous process Articular Process
Structure that runs the length of the spine and contains the spinal cord
Vertebral column
The 2 most common neural defects, occurring in 1 in every 1,000 pregnancies
Anencephaly & spina Bride
80% of spina bifida can be detected with what screening in association with sonography
AFP screening
Omphalocele, gastroschisis, multiple gestations and fetal death are associated with elevated levels of
MSAFP
Type of Spina Bfida that is not associated with elevated MSAFP
Closed Spina BFIDA
Neural tube defect that occurs when the embryonic neural tube fails to close
Spina BFida
Spina bifida can be subdivided into two types
Occulta (Closed) and Aperta (Open
The most common form of spina bifida
Spina Bfida Aperta
Meningocele and myelomeningocele are forms of spina bifida referred to as
Spina Bfida Cystica
The most common location of spina bifida is
Lumbrosacral area
he sensitivity of cranial findings associated with Chiari II malformations, with detecting spina bifida is said to be greater than what percentage
99%
Fetal surgery can be performed on the fetus with spina bifida when a mass is identifiable on the spine as early as how many weeks gestation
16 weeks
The goal of performing surgery on the fetus who has spina bifida is to prevent the _________________ associated with spina bifida
Neurologic defects
Clinical Findings:
- In utero: normal laboratory values
- Postnatal: sacral dimple, hemangioma, lipoma, or excessive hair identified directly over the distal spine
These are the clinical findings of?
Spina Bfida Occulta
Clinical Findings:
1. Elevated MSAFP
Sonographic Findings:
- Splaying of the laminae in the area of the defect
- Cystic (meningocele) or complex (myelomeningocele) mass protruding from the spine
- Lemon Sign
- Banana Sign
- Obliterated cisterna magna
- Colpocephaly
- Hydrocephalus
These represent the clinical and sonographic findings of?
Spina Bifida Aperta
Distortion of the spine can be seen with what 4 things (MAHL)
Hemivertebrae
, Myelomeningoceles,
Amniotic Band Syndrome,
and Limb Body Wall Complex
Vascular occlusion, amnion rupture, or embryonic dysgenesis are the three postulated causes of?
Limb Body wall complex
Clinical Findings:
1. Elevated MSAFP (due to an opening in the ventral wall)
Sonographic Findings:
- Short or absent umbilical cord
- Marked scoliosis
- Close connection with the placenta
- Various other anomalies including craniofacial and limb defects
These are the clinical and sonographic findings of?
Limb Body wall compelxc
More than __________ skeletal dysplasias have been identified
271
`
The four most common skeletal dysplasias
Achondroplasia, Achondrogenesis, Osteogenesis Imperfecta, and Thanatophoric Dysplasia
Heterozygous achondroplasia is this type of disorder
Autosomal Dominant Disorder
Homozygous achondroplasia is fatal and occurs when both parents are
Dwarfs
Rhizomelia is not detected until 24 weeks gestation, when a difference in gestational age measurements between the __________ and __________ are detected
BPD
Femur length
Sonographic Findings:
- Macrocrania
- Frontal bossing
- Flattened nasal bridge
- Micromelia
- Trident hand
These are the sonographic findings of?
Achondrplasia
The most severe type of osteogenesis imperfecta
Type 11
Sonographic Findings:
- Demineralization of the skull (transducer pressure can alter the shape of the skull)
- Multiple fractures
- Bell shaped chest
- Decreased fetal movement
These are the sonographic findings of?
Osteogenis/Imperfecta/Brittle bone disease
Fetuses with thanatophoric dysplasia typically die shortly after birth, succumbing to
Pulmonary Hypoplasia
Secondary thoracic narrowing
Sonographic Findings:
- Cloverleaf skull
- Hydrocephalus
- Depressed nasal bridge
- Bell shaped chest (narrow thorax)
- Polyhydramnios
- Redundant soft tissue
These are the sonographic findings of?
Thantarophic dysplasia
Clinical Findings:
1. Association with uncontrolled maternal diabetes
Sonographic Findings:
- Absent sacrum and possibly part of the lumbar vertebrae
- Possible abnormalities in the lower extremities like clubfeet
These are the clinical and sonographic findings of?
Caudal regression syndrome
Sirenomelia is almost always lethal because of its association with
Bilateral renal agencies
Clinical Findings:
1. Uncontrolled maternal diabetes
Sonographic Findings:
- Fusion of the lower extremities
- Bilateral renal agenesis
- Oligohydramnios (possibly anhydramnios)
These are the clinical and sonographic findings of?
Sirenomelia
The most common congenital neoplasm that is more frequently found in females
Sacroccocygeal Teratoma
Has the potential to grow inside of the pelvis, may cause destruction of the sacrum and pelvic bones, and if large may have malignant potential
Sacrococcygeal teratoma
Sonographic Findings:
- Complex mass extending off of the distal fetal spine
- Mass can be highly vascular
- Hydronephrosis may be present (when mass invades the pelvis)
- Fetal hydrops may be present
These are the sonographic findings of?
Sacroccocygeal teratoma
The appendicular skeleton begins to form between what two weeks gestation
6 and 8 weeks
The femur, tibia, fibula, humerus, radius, and ulna can be measured as early as how many weeks gestation
12 weeks
Radial ray defect can be seen with what two trisomies
Trisomy 13 and 18
Sonographic Findings:
- Absent or hypoplastic radius
- Various defects in other body systems cardiac and VACTERL association
These are the sonographic findings of?
Radial ray defect
Sonographic Findings:
- Amputation of fetal parts or severe edema in the affected area
- Facial clefting
These are the sonographic findings of?
Amniotic band syndrome
Sonographic Findings:
1. Metatarsals lie in the same plane as the tibia and fibula
These are the sonographic findings of?
clubfoot
what is the maternal dietary supplement that has been shown to significantly reduce the likelihood of the fetus suffering from a neural tube defect? A. AFP B. ESTRIOL C.FOLATE D. PREGANCY PROTEIN A
C
Talipes equinovarus is associated with:
a) Clubfoot
b) Syndactyly
c) Rhizomelia
d) Rockerbottom feet
A
The artifact seen posterior to solid structures such as fetal bone is referred to as:
a) Acoustic shadowing
b) Posterior enhancement
c) Reverberation artifact
d) Edge artifact
A
What is the anomaly of the spine in which there is absence of all or part of a vertebral body and posterior element?
a) Kyphosis
b) Scoliosis
c) Kyphoscoliosis
d) Hemivertebra
D
The disorder associated with fetal amputation is:
a) Achondroplasia
b) Osteogenesis imperfecta
c) Thanatophoric dysplasia
d) Amniotic band syndrome
D
The form of inheritance in which at least one parent has to be a carrier of an abnormal gene for it to be passed to the fetus is:
a) Autosomal recessive
b) Autosomal dominant
c) inherited dominant
d) Inherited recessive
B
The condition associated with the absence of the sacrum and coccyx:
a) LBWC
b) Caudal regression syndrome
c) Thanatophoric dwarfism
d) Heterozygous achondroplasia
B
All of the following are characteristics of spina bifida occulta except:
a) Closed defect
b) Elevated MSAFP
c) Sacral dimple
d) Hemangioma
B
The abnormal lateral ventricle shape in which there is a small frontal horn and enlarged occipital horn is referred to as:
a) Cebocephaly
b) Banana sign
c) Colpocephaly
d) Cephalocele
C
All of the following are characteristics of spina bifida cystica except:
a) Banana sign
b) Lemon sign
c) Enlarged massa intermedia
d) Normal MSAFP
D
In VACTERL association, the letter āCā stands for:
a) Cerebellar
b) C-spine
c) Cranial
d) Cardiac
D
All of the following are associated with spina bifida except:
a) Splaying of the laminae
b) Enlarged posterior fossa
c) Lemon sign
d) Banana sign
B
The abnormal lateral curvature of the spine is referred to as:
a) Kyphosis
b) Scoliosis
c) Splaying
d) Achondroplasia
B
The lemon sign denotes:
a) An abnormal shape of the fetal skull
b) A normal shape of the cerebellum
c) An abnormal shape of the cerebellum
d) A normal shape of the fetal skull
A
All of the following are clinical or sonographic findings consistent with LBWC except:
a) Ventral wall defects
b) Decreased MSAFP
c) Marked scoliosis
d) Shortened umbilical cord
B
A disorder that results in abnormal bone growth and dwarfism is:
a) Osteogenesis imperfecta
b) Achondroplasia
c) Radial ray defect
d) Caudal regression syndrome
B
Which of the following would increase the likelihood of a fetus developing sirenomelia and caudal regression syndrome?
a) Previous cesarean section
b) Preexisting maternal diabetes
c) Previous ectopic pregnancy
d) Elevated human chorionic gonadotropin
B
The group of fetal head and brain abnormalities that often coexist with spina bifida is referred to as:
a) Dandy-Walker malformation
b) Budd-Chiari syndrome
c) Arnold-Chiari II malformation
d) Amniotic band syndrome
C
In VACTERL association, the letter āLā stands for:
a) Limb
b) Lung
c) Liver
d) Larynx
A
The most common nonlethal skeletal dysplasia is:
a) Achondrogenesis
b) Achondroplasia
c) Thanatophoric dysplasia
d) Osteogenesis imperfecta
B
Achondroplasia is associated with all of the following except:
a) Frontal bossing
b) Flattened nasal bridge
c) Trident hand
d) Absent mineralization of the skull
D
What abnormality results in limitation of the fetal limbs as a result of joint contractures?
a) Acromegaly
b) Radial ray defect
c) Achondrogenesis
d) Arthrogryposis
D
The thalamic tissue located within the third ventricle of the brain that can become enlarged with Arnold-Chiari II malformation is the:
a) Corpus callosum
b) Cerebellar vermis
c) Cavum septum pellucidum
d) Massa intermedia
D
Rhizomelia denotes:
a) Long upper extremities
b) Shortening of an entire limb
c) Shortening of the proximal segment of a limb
d) Shortening of the distal segment of a limb
C
An absent sacrum and coccyx is referred to as:
a) Sirenomelia
b) Caudal regression syndrome
c) Achondroplasia
d) Radial ray defect
B
Absent long bones with the hands and feet arising from the shoulders and hips describes:
a) Micromelia
b) Mesomelia
c) Phocomelia
d) Arthrogryposis
C
All of the following are characteristic sonographic findings of achondrogenesis except:
a) Micromelia
b) Absent mineralization of the pelvis
c) Multiple dislocated joints
d) Polyhydramnios
C
Upon sonographic interrogation of a 28-week pregnancy, you note that when pressure is applied to the fetal skull, the skull can be easily distorted. This is sonographic evidence of:
a) Arnold-Chiari II malformation
b) Achondroplasia
c) Thanatophoric dysplasia
d) Osteogenesis imperfecta
D
A bell-shaped chest and multiple fetal fractures are indicative of:
a) Thanatophoric dysplasia
b) Caudal regression syndrome
c) Achondrogenesis
d) Osteogenesis imperfecta
D
All of the following are signs of Arnold-Chiari II malformation except:
a) S-shaped spine
b) Banana sign
c) Lemon sign
d) Colpocephaly
A
All of the following are associated with amniotic band syndrome except:
a) Amputation of fetal parts
b) Anencephaly
c) Facial clefting
d) Synechiae
D
The exaggerated distance between the first toe and the second toe is:
a) Trident toes
b) Sandal gap
c) Phocomelia
d) Mesomelia
B
Sirenomelia is commonly referred to as:
a) Radial ray defect
b) Rhizomelia
c) Mermaid syndrome
d) Rockerbottom feet
C
Absence of the radius is referred to as:
a) Talipes equinovarus
b) Clubfoot
c) Radial ray defect
d) Phocomelia
C
onographically, you visualize a mass extending from the distal spine of a fetus. This mass could be all of the following except:
a) SCT
b) Meningocele
c) Meningomyolocele
d) Phocomeningocele
D
A cloverleaf skull and hydrocephalus is seen with:
a) Achondrogenesis
b) Osteogenesis imperfecta
c) Sirenomelia
d) Thanatophoric dysplasia
D
What term is defined as fusion of the digits?
a) Clinodactyly
b) Polydactyly
c) Syndactyly
d) Rhizodactyly
C
A protein produced by the yolk sac and fetal liver that is found in excess in the maternal circulation in the presence of a neural tube defect is:
a) Folate
b) hCG
c) Estriol
d) AFP
D
What condition is associated with bilateral renal agenesis, oligohydramnios, and fusion of the lower extremities?
a) SCT
b) Caudal displacement syndrome
c) Sirenomelia
d) Osteogenesis imperfecta
C
Which of the following is true for the diagnosis of clubfoot?
a) The metatarsals and toes lie in the same plane as the tibia and fibula
b) The metatarsals are perpendicular to the tibia and fibula
c) The carpals and metacarpals lie in the same plane as the tibia and fibula
d) The tibia, fibula, and patella are perpendicular to the femur
B
