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128 Cards in this Set

  • Front
  • Back

What is achondrogenesis?

Rare, lethal condition resulting abnormal development of bones and cartilage.

What is achondroplasia?

skeletal dysplasia condition causing abnormal bone growth and dwarfism

Alpha Feto-protein is produced where?

Fetal Yolk sac, fetal liver, fetal GI tract; can be produced by some malignant tumors

What is anencephaly?

Neural tube defect; Lack of skull or brain tissue (cerebral hemispheres)

What does autosomal dominant disorder mean?

At least one parent has to be a carrier of the gene of the disease in order for the fetus to inherit the disorder or trait.

What is Axial skeleton and appendicular skeleton?

Axial includes the cranium and spine.


Appendicular includes the ones of the upper and lower extremities and pelvic girdle.

Banana sign means?

Think spina bifida. Cerebellum is curved when spina bifida is present.

BPD measurement includes and where are the calipers placed?

Transverse plane at level of third ventricle, thalamus. Include CSP, falx cerebri


Outer of proximal parietal bone to inner of the distal parietal bone.

What is caudal regression syndrome?

Absence of sacrum and coccyx.


(Sacral agenesis)

What is cephalocele?

Protrusion of intracranial contents through defect in the skull.

Which part of the brain is responsible for the motor output, sensory perception, equilibrium?

Cerebellum

What’s the term of closed spina bifida?

Spina bifida occulta

What is club foot?

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

What is colpocephaly?

Abnormal lateral ventricle in which there is a small frontal horn and enlarged occipital horn

What is encephalocele?

Protrusion of the brain tissue through the defect in the skull.

What is exencephaly?

Form of acrania in which the entire cerebrum is located outside of the skull.

What is exencephaly?

Form of acrania in which the entire cerebrum is located outside of the skull.

Gastroschisis is left sided or right sided?


What is it?

Right side; herniation of abdominal contents through a periumbilical abdominal wall defect

What is germ cell tumor?

Type of neoplasm derived from germ cell of the gonads. May also be found outside the reproductive tract.

Benign tumor composed of blood vessels?

Hemangioma

What is hemivertebra?

Anomaly of the spine in which there is absence of all or part of a vertebral body and posterior element.

What is heterozygous achondroplasia?


Characterized by?

Most common non lethal skeletal dysplasia. Characterized by rhizomelia.

What is homozygous achondroplasia?

Fatal form of achondroplasia

This hormone is produced by trophoblastic cells. Tumor marker for males.

HCG

What is kyphoscoliosis?

Combination of scoliosis and kyphosis in the fetus

What is kyphosis?

Abnormal posterior curvature of the spine.

Lemon sign means?

Lemon shaped skull which associates with spina bifida

Lemon sign means?

Lemon shaped skull which associates with spina bifida

What is Limb body wall complex?

Group of disorders. Findings include short umbilical cord or absent umbilical cord, ventral wall defect, limb defect, craniofacial defect, scoliosis.

What’s a lipoma?

Benign fatty tumor

What’s the maternal screening consist of?

Evaluate maternal levels of AFP, estriol, hCG, to Eval for neural tube defect or chromosomal abnormalities.

What’s the maternal screening consist of?

Evaluate maternal levels of AFP, estriol, hCG, to Eval for neural tube defect or chromosomal abnormalities.

What are meninges?

Coverings of the brain and spinal cord.

What’s the maternal screening consist of?

Evaluate maternal levels of AFP, estriol, hCG, to Eval for neural tube defect or chromosomal abnormalities.

What are meninges?

Coverings of the brain and spinal cord.

Meningocele means?

Herniation of the spine or cranial meninges because of an open cranial or spinal defect; contains CSF but not nerve tissue.

What’s the maternal screening consist of?

Evaluate maternal levels of AFP, estriol, hCG, to Eval for neural tube defect or chromosomal abnormalities.

What are meninges?

Coverings of the brain and spinal cord.

Meningocele means?

Herniation of the spine or cranial meninges because of an open cranial or spinal defect; contains CSF but not nerve tissue.

What is meningomyelocele?

Mass that results from open spina bifida that contains the spinal cord and the meninges. Also referred to as myelomeningocele.

What’s the maternal screening consist of?

Evaluate maternal levels of AFP, estriol, hCG, to Eval for neural tube defect or chromosomal abnormalities.

What are meninges?

Coverings of the brain and spinal cord.

Meningocele means?

Herniation of the spine or cranial meninges because of an open cranial or spinal defect; contains CSF but not nerve tissue.

What is meningomyelocele?

Mass that results from open spina bifida that contains the spinal cord and the meninges. Also referred to as myelomeningocele.

Myelocele means?

Mass that results from open spina bifida that contains spinal cord only.

What’s the maternal screening consist of?

Evaluate maternal levels of AFP, estriol, hCG, to Eval for neural tube defect or chromosomal abnormalities.

What are meninges?

Coverings of the brain and spinal cord.

Meningocele means?

Herniation of the spine or cranial meninges because of an open cranial or spinal defect; contains CSF but not nerve tissue.

What is meningomyelocele?

Mass that results from open spina bifida that contains the spinal cord and the meninges. Also referred to as myelomeningocele.

Myelocele means?

Mass that results from open spina bifida that contains spinal cord only.

What is omphalocele?

Anterior abdominal wall defect where there is herniation of the fetal bowel and other abdominal organs into the base of the umbilical cord.

What’s the maternal screening consist of?

Evaluate maternal levels of AFP, estriol, hCG, to Eval for neural tube defect or chromosomal abnormalities.

What are meninges?

Coverings of the brain and spinal cord.

Meningocele means?

Herniation of the spine or cranial meninges because of an open cranial or spinal defect; contains CSF but not nerve tissue.

What is meningomyelocele?

Mass that results from open spina bifida that contains the spinal cord and the meninges. Also referred to as myelomeningocele.

Myelocele means?

Mass that results from open spina bifida that contains spinal cord only.

What is omphalocele?

Anterior abdominal wall defect where there is herniation of the fetal bowel and other abdominal organs into the base of the umbilical cord.

Posterior fossa includes?

Located near Cerebellum and contains the cistern magna

What’s the maternal screening consist of?

Evaluate maternal levels of AFP, estriol, hCG, to Eval for neural tube defect or chromosomal abnormalities.

What are meninges?

Coverings of the brain and spinal cord.

Meningocele means?

Herniation of the spine or cranial meninges because of an open cranial or spinal defect; contains CSF but not nerve tissue.

What is meningomyelocele?

Mass that results from open spina bifida that contains the spinal cord and the meninges. Also referred to as myelomeningocele.

Myelocele means?

Mass that results from open spina bifida that contains spinal cord only.

What is omphalocele?

Anterior abdominal wall defect where there is herniation of the fetal bowel and other abdominal organs into the base of the umbilical cord.

Posterior fossa includes?

Located near Cerebellum and contains the cistern magna

What is osteogenesis imperfecta?

Group of disorders that result in multiple fractures in utero; caused by demineralization and poor ossification of the bones.

What is pregestational diabetes?

Having diabetes before pregnancy; includes type 1 and type 2 diabetes mellitus.

What is rhizomelia?

Shortening of the proximal segment of a limb.

What is radial ray defect?

Absence or underdevelopment of radius

What is a sacral dimple?

Opening of the skin over the distal spine.

What is scoliosis?

Lateral curvature of the spine

What is sirenomelia?

Fusion of lower extremities;


Renal agenesis and Oligohydramnios May be referred to as mermaid syndrome.

What’s the most common form of spina bifida?

Spina bifida aperta

What is spina bifida occulta?

Closed spinal lesion that is completely covered by skin. Difficult to visualize with ultrasound.

What is spina bifida occulta?

Closed spinal lesion that is completely covered by skin. Difficult to visualize with ultrasound.

What does splay mean?


What does synechiae mean?

Turned outward.


Adhesions.

What is spina bifida occulta?

Closed spinal lesion that is completely covered by skin. Difficult to visualize with ultrasound.

What does splay mean?


What does synechiae mean?

Turned outward.


Adhesions.

What does talipes equinovarus mean?

Club foot

What is spina bifida occulta?

Closed spinal lesion that is completely covered by skin. Difficult to visualize with ultrasound.

What does splay mean?


What does synechiae mean?

Turned outward.


Adhesions.

What does talipes equinovarus mean?

Club foot

What does spinal dysraphism mean?

Group of neural tube defects that describe some manifestation of incomplete closure of the spine.

What’s the most common lethal skeletal dysplasia?

Thanatotrophic dysplasia

What is trident hand?

Wide separation between the fourth and third finger.


(Middle and ring finger)

What is trident hand?

Wide separation between the fourth and third finger.


(Middle and ring finger)

Cloverleaf skull, frontal bossing, hydrocephalus. This is?

Thanatotrophic dysplasia

Triple screen consists of?

HCG, estriol and AFP

What is VACTERL association?

Vertebral anomalies, Anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, limb anomalies.


(VATER Association)

Axial skeleton begins to form?

Between 6-8 gestational weeks

Each fetal vertebrae has how many ossifications, detail?

3; one centrum and two neural processes.

What are the most common neural tube defects?

Anencephaly and spina bifida

MSAFP is not only elevated with spina bifida. What else?

Gastroschisis, omphalocele, multiple gestation, anencephaly, fetal death.


In second trimester, LBWC (opening in the ventral wall) will alter the MSAFP in elevating.

Spina bifida May be also referred to as what terms?

Spinal dysraphism, meningomyelocele (myelomeningocele), meningocele.

Spina bifida occulta is hard to identify in utero, what findings are suspected in postnatal period?

Hemangioma, lipoma, tuft hair, sacral dimple directly over distal spine.

Spina bifida will have intracranial anatomy altered, whereas __________________ doesn’t?

Spina bifida occulta and sacrococcygeal Teratoma does not have intracranial anatomy altered.

Labs were taken on OB patient. MSAFP were elevated. Sono findings include: hydrocephalus, colpocephaly, Lemon shapes skull, obliterated CM, cystic mass protruding from the spine, and splaying on the laminate in area of defect. Suspect?

Spina Bifida Aperta

What are the most common sono findings with LBWC?

Short or absent umbilical cord, craniofacial defects (encephalocele or exencephaly), ventral wall defects, limb defects, scoliosis.

What are the four most common skeletal dysplasias?

Thanatotrophic Dysplasia, achondrogenesis, homozygous achondroplasia, osteogenesis imperfecta.

How is rhizomelia detected?

Difference in gestational age measurements between the BPD and femur length. (Typically in mid to late second trimester).

This dx occurs when both parents are dwarfs.


Finding: micromelia, macrocrania, frontal bossing, flattened nasal bridge, trident hand.

Homozygous achondroplasia

Trident hand is often associated with?

Achondroplasia

What is the most common non- lethal skeletal dysplasia?

Heterozygous achondroplasia

In utero finding includes multiple fractures, demineralization of the skull and bell shaped chest.

Osteogenesis imperfecta (brittle bone disease)

In utero finding includes multiple fractures, demineralization of the skull and bell shaped chest.

Osteogenesis imperfecta (brittle bone disease)

Finding includes Narrow chest and distended abdomen. Large skull, absent mineralization of the skull, spine, pelvis, limbs. Severely shortened limbs and polyhydramnios. Suspect?

Achondrogenesis

In utero finding includes multiple fractures, demineralization of the skull and bell shaped chest.

Osteogenesis imperfecta (brittle bone disease)

Finding includes Narrow chest and distended abdomen. Large skull, absent mineralization of the skull, spine, pelvis, limbs. Severely shortened limbs and polyhydramnios. Suspect?

Achondrogenesis

The finding in OB is a telephone receiver shaped long bones, hydrocephalus, depressed nasal bridge, polyhydramnios, thoracic and abdominal circumference are remarkably dissimilar. Narrow thorax.

Thanatophoric dysplasia

What’s the strong association with causal regression syndrome?


What’s another sonographic finding for CRS?

Pregestational diabetes


Possible clubfoot

This finding in utero is found frequently in females. Most common congenital neoplasm. Complex or solid mass posterior and inferior from distal fetal spine.

Sacrococcygeal Teratoma

This finding in utero is found frequently in females. Most common congenital neoplasm. Complex or solid mass posterior and inferior from distal fetal spine.

Sacrococcygeal Teratoma

Sacrococcygeal Teratoma have been associated with?

Hydrops and may lead to high output congestive heart failure.

Shortening of a limb is made when long bones measure more than?

Four standard deviations below the norm for gestational age.

Shortening of a limb is made when long bones measure more than?

Four standard deviations below the norm for gestational age.

What does acromelia mean??

Shortening of the distal segment of the limb.

Arthrogryposis means?

Limitation of fetal limb motion as a result of Joint contractures; most often affecting the hands and feet.

Clinodactyly means?

Deviation of a finger (absence of the middle fifth phalanx)

Clinodactyly means?

Deviation of a finger (absence of the middle fifth phalanx)

Mesomelia means?

Shortening of the middle segment of the limb

Micromelia means?

Shortening of entire limb

Phocomelia means?

Absent long bones with the hands and feet arising from the shoulders and hips.

Rocker bottom foot means?

Abnormal curved shaped of the sole of the foot

Sandal gap means?

Exaggerative distance between first and second toe.

Syndactyly means?

Fusion of digits (webbed toes)

Radial ray defect has a link with what anomaly?

Cardiac abnormalities. Link with VACTERL association.

Uterine synechiae and amniotic band syndrome are seen in sono as thin, linear bands, however synechiae is different how?

Has a broad base crossing the amniotic sac.

All of the following are sign of Arnold Chiari II malformation except:


A. S shaped spine


B. Banana sign


C. Lemon sign


D. Colpocephaly

A. S- shaped sign