OB CHP. 26

The axial skeleton begins to form between what weeks?

6 and 8th week

80% of spina bifida can be detected with what screening?

Alpha fetoprotein

A protein produced by the fetal yolk Sac fetal GI tract and the fetal liver may also be produced by some malignant tumors

Alpha fetoprotein

A group of abnormalities associated with the entrapment of fetal Parts in the amnion often resulting in fetal amputations or clefting

Amniotic band syndrome

Neural tube defect that is described as the absence of the cranium and cerebral hemispheres

Anencephaly

No amniotic fluid

Anhydramnios

Includes the bones of the upper extremities, lower extremities, pelvic girdle

Appendicular skeleton

Includes the bones of the cranium and spine

Axial skeleton

A fetal head measurement obtained in the transverse plane at the level of the third ventricle and Thalamus this measurement is obtained from the outer table of the proximal parietal bone to the inner table of the distal parietal bone

Biparietal diameter

Syndrome associated with the absence of the sacrum and coccyx AKA sacral agenesis

Caudal regression syndrome

Protrusion of intracranial contents through a defect in the skull

Cephalocele

The portion of the brain located in the inferior posterior portion of the skull that is responsible for motor output, sensory perception, equilibrium

Cerebellum

What are the five sections of the spine?

Cervical, thoracic, lumbar, sacrum, coccyx

The abnormal lateral ventricle shape in which there is a small frontal horn and enlarged occipital horn

Colpocephaly

The Fatal form of achondroplasia

Homozygous achondroplasia

Hormone produced by the trophoblastic cells of the early placenta may also be used as a tumor marker and non gravid patients and males

Human chorionic gonadotropin

A screening test that detects the amount of alpha fetoprotein in the maternal bloodstream

Maternal serum Alpha fetoprotein

Blood screening test that evaluates maternal levels of alpha fetoprotein, estriol, human chorionic gonadotropin during a pregnancy for neural tube defects and chromosomal abnormalities

Maternal serum screening

Embryologic formation that results from the fusion of the two folded ends of the neural plate

Neural tube

A group of disorders that result in multiple fractures in utero caused by decreased mineralization and poor ossification of the bones

Osteogenesis imperfecta

Shortening of the proximal segment of a limb

Rhizomelia

The non-development of the sacrum AKA caudal regression syndrome

Sacral agenesis

An opening in the skin over the distal spine

Sacral dimple

Most common form of spina bifida results in an open lesion not covered by the skin and a mass that protrudes from the spine AKA open spina bifida

Spina bifida aperta

Adhesions

Synechiae

Another name for clubfoot

Talipes equinovarus

thoracic spine

The 12 vertebrae that lie between the cervical vertebrae and the lumbar vertebrae. One pair of ribs is attached to each of the thoracic vertebrae.

cervical spine

The portion of the spinal column consisting of the first seven vertebrae that lie in the neck.

talipes equinovarus is associated with

a. clubfoot

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

!!! b. autosomal dominant

all of the following are characteristics of spina bifida occulta except: a. closed defect b. elevated MSAFP c. sacral dimple d. hemangioma

!!! b. elevated MSAFP

the group of fetal head and brain abnormalities that often coexists with spina bifida is referred to as:

!!! c. arnold-chiari II malformation

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. normal MSAFP

The long bones can be measured as early as how many weeks?

12

Each fetal vertebrae consist of what?

3 echogenic ossification centers, one Centrum and two neural processes

How many types of osteogenesis imperfecta are there?

4

Studies have shown that a supplement of ___ mg of folate (folic acid) in a woman's diet significantly reduces the likelihood of spina bifida and other neural tube defects

4

The appendicular skeleton begins to form between what weeks?

6 and 8th week

Achondroplasia

A form of human dwarfism caused by a single dominant allele; the homozygous condition is lethal

What is the sonographic appearance of kyphosis?

Abnormal posterior curvature of the spine

What are the sonography findings of radial Ray defect?

Absent or hypoplastic radius, various defects and other body systems, cardiac and vacterl Association

What are the sonography findings of caudal regression syndrome?

Absent sacrum and possibly part of the lumbar vertebra, possible abnormalities in the lower extremities like club feet

Rare lethal condition resulting in abnormal development of the bones and cartilage

Achondrogenesis

A disorder that results in abnormal bone growth and dwarfism

Achondroplasia

Shortening of the distal segment of a limb

Acromelia

Types 1, 3, 4 of osteogenesis imperfecta are typically diagnosed when?

After birth

What has similar sonography findings to limb body wall complex?

Amniotic band syndrome

The sonographic sign of the cerebellum being curved in the presence of spina bifida

Banana sign

Deviation of a finger

Clinodactyly

The abnormal shape of the cranium caused by premature Fusion of the sutures in which there is a frontal bossing and a clover leaf 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 lie in the same plane as the tibia and fibula

Club foot

An inversion of the soles of one foot towards the other also referred to as talipes equinovarus

Club foot

Abnormal short stature

Dwarfism

Denotes the abnormal development of a structure

Dysplasia

What are the clinical findings of limb body wall complex?

Elevated msafp

What are the clinical findings of spina bifida aperta?

Elevated msafp

Protrusion of the brain tissue through a defect in the skull

Encephalocele

An estrogenic hormone produced by the placenta

Estriol

Form of a crania in which the entire cerebrum is located outside of the skull

Exencephaly

A sonography measurement of the femoral diaphysis that provides an estimated gestational age

Femur length

A vitamin that has been shown to significantly reduce the likelihood of neural tube defect AKA folic acid

Folate

The angling of the frontal bones that produces an unusually predominant forehead

Frontal bossing

Herniation of abdominal contents through a right-sided Periumbilical abdominal wall defect

Gastroschisis

A benign tumor composed of blood vessels

Hemangioma

What are clinical findings of spina bifida occulta?

In utero / normal lab values, postnatal/ sacral dimple, Hemangioma, lipoma, excessive hair identified directly over the distal spine

the combination of both scoliosis and kyphosis in the fetus

Kyphoscoliosis

An abnormal posterior curvature of the spine

Kyphosis

What is the sonographic appearance of scoliosis?

Lateral curvature of the spine, s-shaped spine

A group of disorders with sonography findings including a short or absent umbilical cord ventral wall defects limb defects craniofacial defects and scoliosis

Limb body wall complex

What are the sonography findings of achondroplasia?

Macrocrania, frontal bossing, flattened nose Bridge, micromelia, Trident hand

Meninges herniation of the cranial or spinal meninges due to an open cranial or spinal defect

Meningocele

Mass that results from the Spina Bifida that contains the spinal cord and the meninges AKA myelomeningocele

Meningomyelocele

What is the sonography finding of clubfoot?

Metatarsals lie in the same plane as the tibia and fibula

The higher the location of the Spina Bifida the greater the what?

Neurologic impairment

A lower than normal amount of amniotic fluid for the gestational age

Oligohydramnios

An anterior abdominal wall defect where there is herniation of the fetal bowel and other abdominal organ into the base of the umbilical cord

Omphalocele

The echogenic laminae are normally angled inward while with spina bifida they will be angled where?

Outward

Having more than the normal number of digits

Polydactyl

An excessive amount of amniotic fluid for the gestational age

Polyhydramnios

Posterior portion of the cranium located near the cerebellum and containing the cisterna magna

Posterior fossa

Absence are under development of the radius

Radial ray defect

Abnormal curve shape of the sole of the foot

Rockerbottom foot

What are the sonography findings of achondrogenesis?

Severely shortened limbs, absent mineralization of the skulls, spine, pelvis, limbs, polyhydramnios

What are the sonography findings of limb body wall complex?

Short or absent umbilical cord, marked scoliosis, various other anomalies including craniofacial and limb defects

What is the most common form of spina bifida and the type more frequently recognized in utero?

Spina bifida aperta

What type of spinal defect is this, open defect, may also be referred to a spina bifida cystica, mass is referred to as meningocele or meningomyelocele depending upon contents?

Spina bifida aperta

Form of spina bifida aperta in which there is an identifiable meningocele and myelomeningocele

Spina bifida cystica

What type of spinal defect is closed defect, skin surface abnormality noted on physical exam can be a sacral dimple Tuff of hair Hemangioma or lipoma?

Spina bifida occulta

Spina bifida can be subdivided into what two types?

Spina bifida occulta and spina bifida aperta

A group of neural tube defects that describe some manifestation of incomplete closure of the spine

Spinal dysraphism

Turned outward

Splay

What are the sonographic findings of spina bifida aperta?

Splaying of the laminae in the area of the defect, cystic mass or complex Mass protruding from the spine, lemon sign, banana sign, obliterated cisterna magna, Colpocephaly, hydrocephalus

Fusion of the digits

Syndactyly

Most common lethal skeletal dysplasia characterized by a Cloverleaf skull with frontal bossing and hydrocephalus

Thanatophoric dysplasia

lumbar spine

The lower part of the back, formed by the lowest five nonfused vertebrae; also called the dorsal spine.

sacral spine

The sacral spine consists of 5 fused sacral vertebrae. It is easily distinguishable as an upside-down triangular shape. The two lateral surfaces (sides) are smooth for articulation (loose connection) with the iliac bones of the pelvis.

A wide separation between the middle and ring finger

Trident hand

A maternal blood test that typically includes an analysis of human chorionic gonadotropin, alpha-fetoprotein, estriol

Triple screen

Radial Ray defect can be seen in the presence of what?

Trisomy 13, 18, cardiac anomalies, vacterl syndrome

What type of osteogenesis imperfecta is the most severe type of the disease?

Type II, it results in multiple fractures in utero, skull demineralization, bell-shaped chest, decreased fetal movement

The appendicular skeleton includes the bones of where?

Upper extremities, lower extremities, pelvic girdle

The Centrum will eventually become what? The neural process will become what?

Vertebral body,, lamina, medical, transverse process, spinous process, articular process

Between the two laminae and posterior to the Centrum lies what?

Vertebral column

the artifact seen posterior to solid structures such as fetal bone is referred to as?

a. acoustic shadowing

the lemon sign denotes

a. an abnormal shape of the fetal skull

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. s-shaped spine

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 fibular d. the tibia, fibula, and patella are perpendicular to the femur

a. the metatarsals and toes lie in the same plane as the tibia and fibula

What are the findings of amniotic band syndrome?

amputation or severe edema, thin linear bands, facial clefting

a disorder that results in abnormal bone growth and dwarfism is

b. achondroplasia

the most common nonlethal skeletal dysplasia is

b. achondroplasia

an absent sacrum and coccyx is referred to as

b. caudal regression syndrome

the condition associated with the absence of the sacrum and coccyx

b. caudal regression syndrome

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. decreased MSAFP

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. enlarged posterior fossa

the abnormal lateral curvature of the spine is referred to as:

b. scoliosis

the abnormal lateral ventricle shape in which there is a small frontal horn and enlarged occipital horn is referred to as:

c. colpocephaly

what is the maternal dietary supplement that has been shown to significantly reduce the likelihood of the fetus suffering from a neural tube defect?

c. folate

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. multiple dislocated joints

absence of the radius is referred to as:

c. radial ray defect

what term is defined as fusion of the digits?

c. syndactyly

neural tube defects

congenital deformities of the brain and spinal cord caused by incomplete development of the neural tube, the embryonic structure that forms the nervous system

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

d. AFP

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. absent mineralization of the skull

the disorder associated with fetal amputations is:

d. amniotic band syndrome

what is the anomaly of the spine in which there is absence of all or part of a vertebral body and posterior element?

d. hemivertebra

the thalamic tissue located within the third ventricle of the brain that can become enlarged with Arnold-Chiari II malformation is the:

d. massa intermedia

a bell-shaped chest and multiple fetal fractures are indicative of:

d. osteogenesis imperfecta

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:

d. osterogenesis imperfecta

all of the following are associated with amniotic band syndrome except: a. amputation of fetal parts b. anencephaly c. facial clefting d. synechiae

d. synechiae

a cloverleaf skull and hydrocephalus is seen with:

d. thanatophoric dysplasia

coccyx

four vertebrae fused together to form the tailbone

omphalocele

herniation at the umbilicus

Elevated MSAFP is associated with

omphalocele, gastroschisis, multiple gestations, fetal death

the spine is typically imaged in what scan planes?

sagittal, transverse, and coronal