OB- syndromes

Question 1

Most common chromosomal abnormality?

Answer 1

Tri- 21

Question 2

risk factors of Tri-21? (2)

Answer 2

1. advanced maternal age

2. previous child with Tri-21

Question 3

head anomalies associated with Tri 21? (2)

Answer 3

• ventriculomegly (10-12mm)

- nuchal thickening

Question 4

abnormal nuchal thickening?

Answer 4

> 6 mm at 15-20 weeks = abnormal

Question 5

Tri 21 cardiac anomalies? (2)

Answer 5

• most common: aterioventricular canal defect

- echogenic intracardia foci

Question 6

what % of tri 21 patients will have a cardiac defect?

Answer 6

50%

Question 7

3 clinical presentations associated with Tri 21?

Answer 7

1. duodenal atresia
2. echogenic bowel
3. mild pyelectasis

Question 8

what fraction of duodenal atresia cases are associated with Tri-21?

Answer 8

1/3rd

Question 9

what is mild pyelectasis?

Answer 9

• renal antero-postrior diameter >4mm in fetus <20 weeks GA

Question 10

Exremity anomalies associated with tri 21? (4)

Answer 10

1. widened iliac angle
2. rhizomelia
3. clinodacyly
4. sandal gap toes

Question 11

what is widened iliac angle?

• degree in patients with tri-21?

Answer 11

• 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

Question 12

What is Clinodactyly of the 5th digit: (60%)?

Answer 12

Tri-21 is often accompanied by hypoplasia of the middle phalanx of the 5th digit resulting in clinodactyly of the digit (inward-curvature)

Question 13

what is sandal gap toes?

Answer 13

extra separation of the 1st and 2nd toes

- uncommon finding associated with tri 21

Question 14

Tri 18 is also known as?

Answer 14

Edwards syndrome

Question 15

Rate of tri 18?

Answer 15

1 in 8000 births

Question 16

Risk of tri 18? (3)

Answer 16

1. advanced maternal age
2. previously affected child
3. IUGR

Question 17

Head anomlies associated with tri 18? (3)

Answer 17

1. strawberry shaped head
2. choroid plexus cyst
3. enlarged cisterna magna

Question 18

what is the most common chromosomal abnormality associated with choroid plexus cyst?

Answer 18

Tri 18

Question 19

Cardiac anomalies associated with tri 18? (2)

Answer 19

1. venricular septal defect (VSD)

2. atrial septal defect (ASD)

Question 20

what is the most common association to omphalocele?

Answer 20

tri 18

Question 21

what is most commonly associated with congenital diaphragmatic hernia?

Answer 21

Tri 18

Question 22

Extremities abnormalities associated with tri 18? (3)

Answer 22

1. clenched hands with overlapping digits
2. club foot
3. rocker bottom feet

Question 23

Tri 13 AKA?

Answer 23

patau’s syndrome

Question 24

tri 13 risk? (3)

Answer 24

1. advanced maternal age
2. IUGR
3. Previously affected child

Question 25

Rate of Tri 13?

Answer 25

1 in 25 000 births

Question 26

Head abnormalities associated with tri 13? (5)

Answer 26

1. microcephaly 2. holoprosencephaly 3. cleft lip 4. ocular abnormalities 5. nose abnormalities

Question 26

Head abnormalities associated with tri 13? (5)

Answer 26

1. microcephaly 2. holoprosencephaly 3. cleft lip 4. ocular abnormalities 5. nose abnormalities

Question 27

cardiac abnormalities associated with tri 13?

Answer 27

VSD

Question 28

Most common genitourinary abnormlity associated with tri 13?

Answer 28

cystic renal dysplasia

Question 29

Extremity abnormality associated with tri 13?

Answer 29

polydactyly

Question 30

what is 45, XO: Turner’s Syndrome?

Answer 30

- aneuploidy with one of the x chromosomes missing | - not associated with maternal age

Question 31

risk factors 45, XO: Turner’s Syndrome? (1)

Answer 31

1. female only

Question 32

Head abnormalities associated with 45, XO: Turner’s Syndrome? (2)

Answer 32

1. cystic hygroma | 2. webbed neck

Question 33

heart anomalie associated with 45, XO: Turner’s Syndrome? (1)

Answer 33

- coarction of aorta

Question 34

what is most commonly associated with hydrops?

Answer 34

1. 45, XO: Turner’s Syndrome | 2. Tri 21

Question 35

Extremity abnormality associated with 45, XO: Turner’s Syndrome?

Answer 35

swollen hands

Question 36

what is noonan sydrome?

Answer 36

- genetic mutaiton | - condition that affects many areas of the body

Question 37

how is noonans sydrome characterized?

Answer 37

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

Question 38

Trisomy VS. triploidy?

Answer 38

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

Question 39

What 2 things are NOT associated with advanced maternal age?

Answer 39

1. triploidy | 2. 45,XO

Question 40

Triplody risk?

Answer 40

IUGR

Question 41

4 anomalies associated with triploidy?

Answer 41

 Brain: alobar holoprosencephaly  Hands and feet (polydactyly)  Short femur (60%)  Molar pregnancy (prior 20 weeks gestation)

Question 42

pentalogy of cantrell is an association of? (5)

Answer 42

1. ectopia cordis 2. heart defect 3. diphragmatic hernia 4. pericardial defect 5. omphalocele

Question 43

Beckwith-Wiedemann Syndrome growth begins at when age?

Answer 43

8 years old

Question 44

specific parts of the body that may grow abnormally large, leading to an asymmetric or uneven appearance is known as?

Answer 44

hemihyperplasia

Question 45

associations of Beckwith-Wiedemann Syndrome? (4)

Answer 45

Macrosomia Macroglassia Omphalocele Renal neoplasm

Question 46

What is Meckel-Gruber Syndrome?

Answer 46

disorder with severe signs and symptoms that affect many parts of the body

Question 47

common features of Meckel-Gruber Syndrome? (4)

Answer 47

- Enlarged kidneys with numerous fluid-filled cysts - occipital encephalocele - polydactyly - Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver

Question 48

Meckel-Gruber Syndrome prognosis?

Answer 48

die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.

Question 49

What is Walker Warburg Syndrome? | - what does it affect? (3)

Answer 49

An inherited disorder that affects development of the muscles, brain, and eyes

Question 50

Walker Warburg Syndrome prognosiS?

Answer 50

- most die by 3 years

Question 51

Walker Warburg Syndrome presents as?

Answer 51

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.

Question 52

Walker-Warburg syndrome affects of the brain?

Answer 52

cobblestone lissencephaly: the surface of the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones)

Question 53

What is Smith Lemli Opitz Syndrome?

Answer 53

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.