Malformation

Question 1

What is the most common fetal abnormalities

Answer 1

Cardiac (VSD)

Question 2

What is the 2nd most common and most severe fetal malformation

Answer 2

Neural tube defects

Question 3

What is malformation?

Answer 3

Intrinsic abnormality programmed in the first trimester; spina bifida

Question 4

Define deformation?

Answer 4

Abnormal shape caused constrains within the uterus (club foot due to oligohydraminos)

Question 5

define Disruption:

Answer 5

Interference of normally developing organ system after organogenesis (amniotic band)

Question 6

What is syndrome?

Answer 6

Cluster of anomalies with same etiology

Question 7

Diff between association and sequence

Answer 7

Association: occur together but not linked
Sequence: develop sequentially to an insult

Question 8

What are the causes of fetal malformation

Answer 8

• 50% idiopathic
• genetic
• teratogenic
• infection
• inviromental & maternal

Question 9

Excess of vitamin A can cause:

Answer 9

Craniofascial anomalies

Question 10

What is the US finding in triosomy 21?

Answer 10

Duodenal atresia showing double bubble

Question 11

Differentiate between edwaed and patau

Answer 11

Both club foot

• edward: small mouth - horseshoe kideny
• patau: small eye - cleft lip and palate

Question 12

What is the most vaunlrable time for teratogenic agent

Answer 12

4-10 weeks (17-56) post conception

Question 13

Give example of teratogenic agents

Answer 13

Alcohol, anti-epilipsy-warafarin, thalidomide, tobacco

Question 14

Define Category A:

Answer 14

Human studies failed to demonstrate risk (first trimester)

Question 15

Define category B:

Answer 15

Animal reproduction studies failed demonstrate risk, or there’s risk but, well controlled

Question 16

Define Category C:

Answer 16

Animal studies say there is SE, no studis on human (but benifits > risk)

Question 17

Define Category D:

Answer 17

Human risk but (benifits > risk)

Question 18

Define Category X:

Answer 18

Animal + human studies = risk (risk >benefits)

Question 19

What are the clinical features of fetal alcohol syndrome

Answer 19

Thin upper lip, low nasal bridge, short noese, smooth filturm

Question 20

What are the oucomes of warfarin during pregnancy

Answer 20

Skeletal and craniofascial anomalies

Question 21

What does thalidomide do during pregnancy

Answer 21

Phecomelia

Question 22

What are the most important features of conginital vericella

Answer 22

1- skin loss & scarring
2- micropthalmia
3- limb defects
4- cortical atrophy

Question 23

What are the triad of conginital rubella

Answer 23

1- microcephaly
2- PDA
3- cataracts

Question 24

What are the most common mainfestation of CMV?

Answer 24

1- permanent hearing loss
2- hepatosplenomegaly
3- mental retardation

Question 25

What is the similarity of syphlis and CMV

Answer 25

Hepatosplenomegaly

Question 26

What is the pathognoim sign for conginital syphlis

Answer 26

1- Petchial rash in soles and palms | 2- wimberger sign (under-calcification of end plate)

Question 27

In severe cases of conginital syphlis, there could be

Answer 27

Hydrops fetalis

Question 28

What is the anomaly associated with valporic acid

Answer 28

Spina bifidaa

Question 29

Diff between omphalocele and gastroschiasis

Answer 29

Omphalo: intestine outside in sac Gastroscasis: intestine outside عايمه seen on US

Question 30

Which one is associated with other abnormalities? omphalocele and gastroschiasis

Answer 30

Omphalocele

Question 31

What is the outcome of conginital diaphragmatic hernia?

Answer 31

Compress liver, impair lung maturation (hypoplasia)

Question 32

Can you see cleft palate in US?

Answer 32

No, only celft lip

Question 33

How do we screen for abnormalities in the first trimester

Answer 33

1- Hx: maternal age 2- blood: B-hcg - serum markers - PAPPA 3- US: NT

Question 34

How do we screen for abnormalities in the 2nd trimester

Answer 34

1- Blood (16-20): AFP - HCG - Estriol 3 | 2- anatomy scan (18-22)

Question 35

What is the diagnostic (NOT screening) for congenital anomalies

Answer 35

Free fetal DNA - CVS & amniocentesis

Question 36

CVS when do we do it

Answer 36

Before 15 weeks

Question 37

When do we do amniocentesis

Answer 37

After 15wks

Question 38

NT is highly associated with

Answer 38

Triosomy 21

Question 39

What is the role of amniotic fluid

Answer 39

Protection, allow freedom of movement, avoid sticking baby to the placenta

Question 40

What is the source of amniotic fluid

Answer 40

1st trimester: fetal tissue | 2nd trimester: urine

Question 41

How to measure amniotic fluid levels

Answer 41

- AFI (8-12) | - single deepest pocket (2-8)

Question 42

Define oligohydraminos

Answer 42

AFI <6 or SDP<2

Question 43

Define anyhraminos:

Answer 43

No amniotic fluid

Question 44

Define polyhydraminos

Answer 44

AFI >18 - SDP >8

Question 45

What are the causes of oligohydraminos

Answer 45

1- idiopathic 2- ROM 3- TTTS 4- IUGR\placenta insufficency