OB Chapters Flashcards
What is anopthalmia?
absence of eyes- this results from the failure of the optic vesicle to form
What syndromes are anopthalmia linked to?
Trisomy 13, 18
lots of distance between eyes
hypertelorism
o Commonly seen with anterior cephalocele displacing the orbits laterally
hypertelorism
closely spaced eyes
Hypotelorism
o Most commonly seen with holoprosencephaly and trisomy 13.
Hypotelorism
• At the level of the eyes, we can measure
o Ocular diameter- lateral wall of orbit to medial of orbit
o Interocular diameter- length between orbits
o Binocular diameter- length of lateral margin of one eye to lateral to other
The lips typically close by weeks
7-8
The palate closes by week
12
Cleft lip and palate are often seen with what disorders?
holoprosencephaly, trisomy 13, and amniotic band
What is macroglossia associated with?
Beckwith-Wiedmann Syndrome and Downs
oral teratoma- often complex
Epignathus
Micrognathia- small mandible and recessed chin is associated with
Seen with Trisomy 13/18
What is a cystic hygroma?
abnormal accumulation of lymphatic fluid within the soft tissue.
What is cystic hygromas associated with?
Seen with Turner, fetal hydrops, aneuploidy, Trisomy 13, 18, 21
An increased nuchal fold is often associated with?
Down syndrome
What level should the nuchal fold be measured?
o Taken at the level of the CSP (cavum). Measure from occipital bone-skin.
Nuchal fold is measured at
15-19 weeks
Nuchal Translucency is measured at
11-14 weeks
Signs and symptoms of Holoprosencephaly
- Hypotelorism-reduced distance between eyes
- Cebocephaly-nose with single nostril
- Cyclopia-fusion of orbits
- Cleft Lip
- Ethomocephaly-no nose, proboscis
Name the 5 parts of the spine in order from neck to tailbone
- Cervical
- Thoracic
- Lumbar
- Sacrum
- Coccyx
Name 3 Neural tube defects
spina bifida, anencephaly, and cephalocele
When a patient has an elevated Maternal Serum Alpha-fetoprotein, what 4 disorders are associated?
omphalocele, gastroschisis, fetal death, and multiple gestations
produced by yolk sac, fetal GI tract and liver, if AFP exits fetus thru an opening, thus the greater amount to pass into maternal circulation. making this lab elevated
Alphafetoprotein
The lower on spine the more greater the neurological damage of spina bifida
True or False
false the HIGHER on the spine the greater damage.
Sonographic findings for Spina Bifida
- Lemon sign- scalloping of frontal bones
- Banana sign-The cerebellum gets displaced inferiorly and posteriorly.
- No cisterna magna
- Enlarged lateral ventricles
- ELEVATED MSAFP with Aperta
Whats the difference between spina bifida occulta and aperta?
Aperta is an open defect and occulta is closed defect of spina bifida—– Think of occulta-like halt and aperta means open in spanish :)
No herniation of spinal contents outside spinal column
After born, can be diagnosed if sacral dimple, hemangioma or more hair is seen.
Spina Bifida Occulta
Spina Bifida containing meninges
Meningocele- part of aperta
Spina Bifida containing meninges and nerve roots
meningomyelocele
abnormal lateral curvature, appears as S shaped
scoliosis
abnormal posterior curvature of spine
Often seen with hemivertebrae, myelomeningoceles, amniotic band syndrome, and limb-body wall complex, and VACTERL
kyphosis
What would you suspect if you see a fetus that is close to placenta with marked scoliosis and a short umbilical cord
Limb-Body Wall Complex
Signs and symptoms of Limb-Body wall complex
Short or absent umbilical cord
ventral wall defects,
limb defects,
craniofacial defects,
scoliosis,
exencephaly (brain outside of head) ,
encephalocele (sac-like protrusions of the brain)
What happens if both parents are dwarfs and the child has both their type of achondroplasia
FATAL called homozygous
difference in BPD and FL around 24 weeks, micromelia (shortened limb), macrocrania, frontal bossing, flattened nasal bridge and trident hand.
Achondroplasia
rare LETHAL condition-
absent mineralization of skeletal bones.
deficiency in ossifaction of spine, pelvic and cranium.
Sonographically- severe limb shortening, rib fractures, and polyhydramnios
Achondrogensis
brittle bone disease- multiple fractures-poor ossification and decreased mineralization-
Osteogenesis Imperfecta
most severe and fatal. Bell shaped chest, decreased movement, skull demineralization, and the soft skull can be disorted.
Which type of osteogensis imperfecta is this?
Type 2- fatal.
sacral agenesis and coccyx. Diabetes has ^association. Sometimes clubbed feet is seen
Caudal Regression Syndrome
think caudal sacral kinda rhyme also caudal/club feet/coccyx all start with C
cloverleaf skull
frontal bossing
hydrocephalus.
The thoracic and AC will be unalike, narrow thorax (bell shaped chest)
hypoplasia of the lungs,
the abdomen will be big
Thanatophoric Dysplasia
Club foot is also called
talipes euinovarus
sticky bands result from rupture of the amnion and can entrap fetal parts and cause amputation of digits, limbs, and skull, and lead to facial clefting.
Amniotic Band syndrome
uncommon, absence or hypoplasia of the radius
Seen in Trisomy 13, 18, and VACTERL
Radial Ray Defect