Malformation Flashcards

1
Q

What is the most common fetal abnormalities

A

Cardiac (VSD)

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2
Q

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

A

Neural tube defects

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3
Q

What is malformation?

A

Intrinsic abnormality programmed in the first trimester; spina bifida

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4
Q

Define deformation?

A

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

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5
Q

define Disruption:

A

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

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6
Q

What is syndrome?

A

Cluster of anomalies with same etiology

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7
Q

Diff between association and sequence

A

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

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8
Q

What are the causes of fetal malformation

A
  • 50% idiopathic
  • genetic
  • teratogenic
  • infection
  • inviromental & maternal
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9
Q

Excess of vitamin A can cause:

A

Craniofascial anomalies

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10
Q

What is the US finding in triosomy 21?

A

Duodenal atresia showing double bubble

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11
Q

Differentiate between edwaed and patau

A

Both club foot

  • edward: small mouth - horseshoe kideny
  • patau: small eye - cleft lip and palate
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12
Q

What is the most vaunlrable time for teratogenic agent

A

4-10 weeks (17-56) post conception

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13
Q

Give example of teratogenic agents

A

Alcohol, anti-epilipsy-warafarin, thalidomide, tobacco

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14
Q

Define Category A:

A

Human studies failed to demonstrate risk (first trimester)

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15
Q

Define category B:

A

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

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16
Q

Define Category C:

A

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

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17
Q

Define Category D:

A

Human risk but (benifits > risk)

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18
Q

Define Category X:

A

Animal + human studies = risk (risk >benefits)

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19
Q

What are the clinical features of fetal alcohol syndrome

A

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

20
Q

What are the oucomes of warfarin during pregnancy

A

Skeletal and craniofascial anomalies

21
Q

What does thalidomide do during pregnancy

A

Phecomelia

22
Q

What are the most important features of conginital vericella

A

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

23
Q

What are the triad of conginital rubella

A

1- microcephaly
2- PDA
3- cataracts

24
Q

What are the most common mainfestation of CMV?

A

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

25
Q

What is the similarity of syphlis and CMV

A

Hepatosplenomegaly

26
Q

What is the pathognoim sign for conginital syphlis

A

1- Petchial rash in soles and palms

2- wimberger sign (under-calcification of end plate)

27
Q

In severe cases of conginital syphlis, there could be

A

Hydrops fetalis

28
Q

What is the anomaly associated with valporic acid

A

Spina bifidaa

29
Q

Diff between omphalocele and gastroschiasis

A

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

30
Q

Which one is associated with other abnormalities? omphalocele and gastroschiasis

A

Omphalocele

31
Q

What is the outcome of conginital diaphragmatic hernia?

A

Compress liver, impair lung maturation (hypoplasia)

32
Q

Can you see cleft palate in US?

A

No, only celft lip

33
Q

How do we screen for abnormalities in the first trimester

A

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

34
Q

How do we screen for abnormalities in the 2nd trimester

A

1- Blood (16-20): AFP - HCG - Estriol 3

2- anatomy scan (18-22)

35
Q

What is the diagnostic (NOT screening) for congenital anomalies

A

Free fetal DNA - CVS & amniocentesis

36
Q

CVS when do we do it

A

Before 15 weeks

37
Q

When do we do amniocentesis

A

After 15wks

38
Q

NT is highly associated with

A

Triosomy 21

39
Q

What is the role of amniotic fluid

A

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

40
Q

What is the source of amniotic fluid

A

1st trimester: fetal tissue

2nd trimester: urine

41
Q

How to measure amniotic fluid levels

A
  • AFI (8-12)

- single deepest pocket (2-8)

42
Q

Define oligohydraminos

A

AFI <6 or SDP<2

43
Q

Define anyhraminos:

A

No amniotic fluid

44
Q

Define polyhydraminos

A

AFI >18 - SDP >8

45
Q

What are the causes of oligohydraminos

A

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