Face & Spine
This is reduced distance between the fetal eyes.
What is hypotolerism?
Absence of the fetal nasal bone is linked to this.
What is trisomy 21?
This is the name for small ears and is associated with trisomy 21.
What is microtia?
This is an abnormal protrusion of the tongue that is usually associated with Beckwith-Wiedemann syndrome & trisomy 21.
What is macroglossia?
This is a small mandible and recessed chin, often seen with trisomy 13 & 18.
What is micrognathia?
This is absence of the eyes.
What is anopthalmia?
This is an abnormal accumulation of lymphatic fluid & tissue that is often seen arising from the neck, but may be found in the axilla. It's often seen with Turner syndrome, fetal hydrops, and trisomies.
What is cystic hygroma?
This can be caused by overtreatment of the mother's Grave's disease, iodine deficiency, or hypothyroidism.
What is fetal goiter?
This is a benign neck cyst that is often found in the angle of the mandible.
What is branchial cleft cyst?
This is a very large, rare, disfiguring neck mass that inhibits the fetus from breathing.
What is cervical teratoma?
This type of spina bifida will be covered by skin and may be noted on a newborn when there is a sacral dimple, tuft of hair, or lipoma near the midline sacrum.
What is spina bifida occulta?
This type of spina bifida is considered an open lesion, and a spinal mass will protrude from the bony defect in the spine.
What is spina bifida aperta?
Spina bifida that is located in the L/S region will typically cause this type of effect in the fetal brain.
This spina bifida mass will contain meninges and spinal nerves.
What is myelomeningocele?
This spinal deformity will result in abnormal anterior to posterior curvature.
What is kyphosis?
This is the combination of both lateral and anterior/posterior spinal curvature.
What is kyposcoliosis?
This is a spina bifida mass that contains only meninges.
What is meningocele?
This is a benign embryological cyst that is found midline, superior to the thyroid near the hyoid bone.
What is thyroglossal duct cyst?
This is associated with trisomy 21 and can be measured in the first trimester as part of a screening exam. It should not exceed 3mm.
What is nuchal translucency?
This is a solid appearing oral teratoma.
What is epignathus?
This fetal measurement places the calipers from the outer orbit to the outer orbit.
What is binocular diameter?
This is increased distance between the eyes.
What is hypertolerism?
This is fusion of the orbits and can be seen with holoprosencephaly.
What is cyclopia?
This is the presence of a proboscis instead of a nose.
What is ethomcephaly?
This is close-set eyes with a nose that has a single nostril.
What is cebocephaly?