OB/GYN Registry Review part 3 Flashcards
leg contains the ____ and ____
tibia
fibula
The forearm contains the ____ and ____
radius
ulna
at least three of the associated defects
VACTERL association
VACTERL
vertebral defects
anorectal atresia
cardiac defects
tracheoesophageal atresia
renal anomalies
limb defects
abnormal curvature laterally or S-shaped spine
scoliosis
abnormal posterior curvature of the spine
kyphosis
associated with amniotic band, limb body wall complex, and VACTERL
scoliosis and kyphosis
limb body wall complex is also known as:
body stalk anomaly
fatal condition caused by vascular occlusion, amnion rupture, or embryonic dysgenesis, elevated AFP
limb body wall complex
appears as if front of abdomen is stuck to placental wall due to very short of absent cord. Body wall defects, limb defects, craniofacial defects, marked scoliosis
limb body wall complex
dwarfism
achondroplasia
autosomal dominant. Most common non-lethal dysplasia
heterozygous achondroplasia
autosomal recessive and fatal dysplasia
homozygous achondroplasia
macrocrania, frontal bossing, trident hand, rhizomelia,
achondroplasia
prominent forehead
frontal bossing
space between third and fourth digits
trident hand
proximal limbs are much shorter than distal l
rhizomelia
rare, lethal condition; absent mineralization/ossification of bones, especially noted in pelvis, spine, and cranium. NO shadowing, micromelia, fractures. polyhydramnios
achondrogenesis
“imperfect bone formation”. Brittle bone disease. results in multiple fractures in utero and under-ossified bones.
osteogenesis imperfecta
refers to the ability of compressing cranium with probe pressure
soft skull
Type ___ osteogenesis imperfect is always fatal
II
Most common lethal dysplasia
thanatophoric (death bearing) dysplasia
abnormal shaped bone growth
thanatophoric dysplasia
“cloverleaf skull”, bell-shaped chest, telephone receiver bowed long bones
thanatophoric dysplasia
Caudal regression syndrome is also referred to as
sacral agenesis
absence of sacrum and coccyx
caudal regression syndrome
defects in lumbar spine and lower limbs; strong association with uncontrolled maternal (pre-gestational) diabetes/diabetes mellitus
caudal regression syndrome
Mermaid syndrome. Fusion of lower extremities. Bilateral renal agenesis often accompanies this disoder
Sirenomeliag
germ cell tumor seen as complex mass extending posteriorly and inferiorly from distal spine. More commonly seen in females. Malignant potential
Sacrococcygeal teratoma
clubfoot is associated with trisomy
13
talipes equinovares
clubfoot
medial inversion of foot. Bottom of foot and metatarsals appear in the same plane as the tibia and fibula
clubfoot
Rockerbottom foot is associated with trisomy:
18
rounded bottom of foot, normal foot/ankle angle
rockerbottom foot
Sandal gap is associated with trisomy
21
space between big two and second digit
sandal gap
absent radius, hypoplastic ulna, missing thumb
radial ray defect
polydactyly is associated with trisomy
13
Clinodactyly is associated with trisomy
18
Syndactyly is associated with
triploidy
sticky bands of amnion result from rupture of the amnion. fetal parts can be caught and causes amputations and odd facial clefts.
amniotic band syndrome
Fetal kidneys produce:
amniotic fluid
GI abnormalities most often result in
polyhydramnios
The stomach is _____ to the diaphragm
inferior
The stomach should empty of fill every ___ minutes
30
Cord insertion is just _____ to the level of the kidneys, should be smooth with no herniations or mass
inferior
absence of a section of the esophagus
esophageal atresia
Esophageal atresia is associated with trisomy
18
“double bubble” sign demonstrating fluid filled stomach and fluid filled proximal duodenum
duodenal atresia
Duodenal atresia is associated with trisomy
21
most common type of colonic atresia that leads to bowel obstruction
anorectal atresia
functional bowel obstruction caused by the absence of nerves within bowel wall
Hirschsprung disease
Echogenic bowel is associated with trisomy __ and cystic fibrosis
21
Most common malignant abdominal mass in neonates. Adrenal gland tumor. Mass superior to kidney.
Neuroblastoma
Most common abnormality of the liver
hepatomegaly
Hepatomegaly is associated with:
Beckwith-Wiedemann syndrome
herniation of bowel through an opening on the right side of cord insertion. Not covered by a membrane or skin. Highly elevated AFP. Usually isolated.
gastroschisis
Persistent herniation of bowel and possibly other organs into the base of the umbilical cord after 12 weeks. Always midline and covered by membrane. AFP may be normal
Omphalocele
Omphaloceles are associated with trisomies
13
18
Fetal kidneys form in the
pelvis
The fetal kidneys rise to the renal fossas by __ weeks
9
By __ weeks, the kidneys are fully functional
10
At __ weeks, the kidneys produce urine
12
The bladder can be seen by ___ weeks
13
The kidneys can be seen by ___ weeks
15
After ___ weeks, the majority of amniotic fluid is made of up fetal urine
16
_____ abnormalities are the most frequent cause of oligohydramnios
renal
Most common renal anomaly
duplicated collecting system
failure of kidney to form; unilateral or bilateral
renal agenesis
“lying down” adrenal sign, adrenal gland is flattened and parallel to spine
absence of renal arteries coming off of aorta
renal agenesis
______ renal agenesis: fluid and bladder will be normal
unilateral
______ renal agenesis: NO BLADDER and NO FLUID
bilateral (Potters syndrome)
2 kinds of polycystic kidney disease:
autosomal recessive PKD
autosomal dominant PKD
infantile polycystic kidney disease
autosomal recessive PKD
adult polycystic kidney disease
autosomal dominant PKD
ARPKDis ______ and will be _____
nonfunctional, fatal
ARPKD is associated with:
Meckel-Gruber syndrome
occipital encephalocele
ADPKD does not affect the function of the kidneys until:
late adulthood
bilateral, echogenic kidneys
non-functioning kidneys
absent bladder
oligohydramnios
fatal
ARPKD
may be normal
bilateral, enlarged echogenic kidneys
functioning kidneys
normal bladder/normal fluid
cysts develop as an adult
ADPKD
can be unilateral or bilateral; large cysts affecting the entire kidney
kidney appears to fill abdomen
affected kidney is non functional
multicystic dysplastic renal dysplasia
caused by early renal obstruction. unilateral or bilateral, kidney becomes small and echogenic with peripheral renal cysts, Non-functional disease
obstructive cystic dysplasia
most common fetal abnormality
hydronephosis
any obstruction to normal succession of urine flow will result in back up and cause dilation _____ to obstruction
proximal
Dilatation of the renal pelvis >4mm in second trimesteer
pyelectasis
dilatation of the renal pelvis > 7mm in the third trimester
pyelectasis
most common cause of hydronephrosis
ureteropelvic junction
UPJ causes dilatation of:
renal pelvis only
least common cause of hydro. Kidneys and ureter obstruction
ureterovesicular junction
everything bladder up dilated
bladder outlet obstruction
_______ causes bladder outlet obstruction in male fetus
posterior urethral valve
leads to massively dilated bladder. “keyhole” sign; dilated bladder; and dilatered posterior urethra. Dilation of ureters and kidneys will occur eventually.
bladder outlet obstruction
megcystis
dilated bladder
absent abdominal musculature, undescended testis, urinary tract abnormalities, also referred to as Eagle-Barret syndrome
Prune Belly Syndrome
bladder located outside of the pelvis. lower abdominal mass inferior to umbilicus.
bladder exstrophy
bladder, intestines, genitalia outside of the pelvis.
cloacal extrophy
most common cause of ambiguous genitalia is a
female with clitoromegaly
abnormal curvature of the penis
hypospadias
35 years or older at EDD
advanced maternal age
analysis of fetal chromosomes
karyotyping
single defect leading to development of other defects
sequency
group of clinically observable findings that often exist together
syndrome
nonrandom occurrence of at least 3 associated defects
association
any structure feature that is abnormal
anomaly
any abnormal number of chromosomes
aneuploidy
normal chromosomes
euploid
two complete sets of chromosomes. Humans have 23 pairs = 46 chromosomes
diploid
three complete sets = 69 chromosomes
triploid
only only of an individual chromosome (45 chromosomes)
monosomy
three copies of one individual chromosome one extra = 47 chromosomes
trisomy
mixed pattern aneuploid
mosaic
samples placental for aspiration of trophoblastic cells
Earliest procedure done TA or TV between 10-12 weeks
fetal loss rate 0.8%
chorionic villi sampling
samples amniotic fluid.
15 weeks onward
US guided TA
Fetal loss rate 0.5%
amniocentesis
percuteaneous umbilical cord sampling. samples fetal blood. After 17 weeks
US guidance
samples through umbilical cord near insertion into placenta. Fetal loss rate 0.1%
Cordocentesis
Most common aneuploid
trisomy 21
occurs in 1 in 800 births
trisomy 21
elevated HCG and inhibin A
Low AFP, estriol, and PAPP-A
trisomy 21
absent nasal bone is associated with
trisomy 21
flattened profile is associated with
trisomy 21
thickened NF is associated with
trisomy 21