OB- syndromes Flashcards
Most common chromosomal abnormality?
Tri- 21
risk factors of Tri-21? (2)
- advanced maternal age
2. previous child with Tri-21
head anomalies associated with Tri 21? (2)
- ventriculomegly (10-12mm)
- nuchal thickening
abnormal nuchal thickening?
> 6 mm at 15-20 weeks = abnormal
Tri 21 cardiac anomalies? (2)
- most common: aterioventricular canal defect
- echogenic intracardia foci
what % of tri 21 patients will have a cardiac defect?
50%
3 clinical presentations associated with Tri 21?
- duodenal atresia
- echogenic bowel
- mild pyelectasis
what fraction of duodenal atresia cases are associated with Tri-21?
1/3rd
what is mild pyelectasis?
- renal antero-postrior diameter >4mm in fetus <20 weeks GA
Exremity anomalies associated with tri 21? (4)
- widened iliac angle
- rhizomelia
- clinodacyly
- sandal gap toes
what is widened iliac angle?
- degree in patients with tri-21?
- iliac angle is measured in an axial view of the fetal plevis.
- angle formed by the convergence of lines drawn along the posterolateral aspect of the right and left iliac wings of ilium
- 60° to 75° in fetuses with Tri-21
What is Clinodactyly of the 5th digit: (60%)?
Tri-21 is often accompanied by hypoplasia of the middle phalanx of the 5th digit resulting in clinodactyly of the digit (inward-curvature)
what is sandal gap toes?
extra separation of the 1st and 2nd toes
- uncommon finding associated with tri 21
Tri 18 is also known as?
Edwards syndrome
Rate of tri 18?
1 in 8000 births
Risk of tri 18? (3)
- advanced maternal age
- previously affected child
- IUGR
Head anomlies associated with tri 18? (3)
- strawberry shaped head
- choroid plexus cyst
- enlarged cisterna magna
what is the most common chromosomal abnormality associated with choroid plexus cyst?
Tri 18
Cardiac anomalies associated with tri 18? (2)
- venricular septal defect (VSD)
2. atrial septal defect (ASD)
what is the most common association to omphalocele?
tri 18
what is most commonly associated with congenital diaphragmatic hernia?
Tri 18
Extremities abnormalities associated with tri 18? (3)
- clenched hands with overlapping digits
- club foot
- rocker bottom feet
Tri 13 AKA?
patau’s syndrome
tri 13 risk? (3)
- advanced maternal age
- IUGR
- Previously affected child
Rate of Tri 13?
1 in 25 000 births
Head abnormalities associated with tri 13? (5)
- microcephaly
- holoprosencephaly
- cleft lip
- ocular abnormalities
- nose abnormalities
Head abnormalities associated with tri 13? (5)
- microcephaly
- holoprosencephaly
- cleft lip
- ocular abnormalities
- nose abnormalities
cardiac abnormalities associated with tri 13?
VSD
Most common genitourinary abnormlity associated with tri 13?
cystic renal dysplasia
Extremity abnormality associated with tri 13?
polydactyly
what is 45, XO: Turner’s Syndrome?
- aneuploidy with one of the x chromosomes missing
- not associated with maternal age
risk factors 45, XO: Turner’s Syndrome? (1)
- female only
Head abnormalities associated with 45, XO: Turner’s Syndrome? (2)
- cystic hygroma
2. webbed neck
heart anomalie associated with 45, XO: Turner’s Syndrome? (1)
- coarction of aorta
what is most commonly associated with hydrops?
- 45, XO: Turner’s Syndrome
2. Tri 21
Extremity abnormality associated with 45, XO: Turner’s Syndrome?
swollen hands
what is noonan sydrome?
- genetic mutaiton
- condition that affects many areas of the body
how is noonans sydrome characterized?
Mildly unusual facial characteristics (distinctive)
- A deep groove in the area between the nose and mouth (philtrum)
- Widely spaced eyes that are usually pale blue or blue-green in color
- Low-set ears that are rotated backward
- High arched palate
- poor alignment of the teeth
- micrognathia
- short neck
- excess neck skin (also called webbing)
- low hairline at the back of the neck
- Short stature
- Heart defects
- Bleeding problems
- Skeletal malformations
Trisomy VS. triploidy?
trisomy:
- 3 copies of a chromosome or part of a chromosome
- normal chromosome # increased by 1 to 47
Triploidy:
- 3 copies of every chromosone
- normal chromosome number increases by 23 to 69
What 2 things are NOT associated with advanced maternal age?
- triploidy
2. 45,XO
Triplody risk?
IUGR
4 anomalies associated with triploidy?
Brain: alobar holoprosencephaly
Hands and feet (polydactyly)
Short femur (60%)
Molar pregnancy (prior 20 weeks gestation)
pentalogy of cantrell is an association of? (5)
- ectopia cordis
- heart defect
- diphragmatic hernia
- pericardial defect
- omphalocele
Beckwith-Wiedemann Syndrome growth begins at when age?
8 years old
specific parts of the body that may grow abnormally large, leading to an asymmetric or uneven appearance is known as?
hemihyperplasia
associations of Beckwith-Wiedemann Syndrome? (4)
Macrosomia
Macroglassia
Omphalocele
Renal neoplasm
What is Meckel-Gruber Syndrome?
disorder with severe signs and symptoms that affect many parts of the body
common features of Meckel-Gruber Syndrome? (4)
- Enlarged kidneys with numerous fluid-filled cysts
- occipital encephalocele
- polydactyly
- Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver
Meckel-Gruber Syndrome prognosis?
die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.
What is Walker Warburg Syndrome?
- what does it affect? (3)
An inherited disorder that affects development of the muscles, brain, and eyes
Walker Warburg Syndrome prognosiS?
- most die by 3 years
Walker Warburg Syndrome presents as?
Affects the skeletal muscles (muscles used for movement). Affected babies have weak muscle tone (hypotonia) and are sometimes described as “floppy.” The muscle weakness worsens over time.
Walker-Warburg syndrome affects of the brain?
cobblestone lissencephaly: the surface of the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones)
What is Smith Lemli Opitz Syndrome?
A developmental disorder that affects many parts of the body
Characterized by:
- Distinctive facial features
- Microcephaly
- Intellectual disability or learning problems
- Behavioral problems.
Many affected children have the characteristic features of autism: a developmental condition that affects communication and social interaction.
