Malformation Flashcards
What is the most common fetal abnormalities
Cardiac (VSD)
What is the 2nd most common and most severe fetal malformation
Neural tube defects
What is malformation?
Intrinsic abnormality programmed in the first trimester; spina bifida
Define deformation?
Abnormal shape caused constrains within the uterus (club foot due to oligohydraminos)
define Disruption:
Interference of normally developing organ system after organogenesis (amniotic band)
What is syndrome?
Cluster of anomalies with same etiology
Diff between association and sequence
Association: occur together but not linked
Sequence: develop sequentially to an insult
What are the causes of fetal malformation
- 50% idiopathic
- genetic
- teratogenic
- infection
- inviromental & maternal
Excess of vitamin A can cause:
Craniofascial anomalies
What is the US finding in triosomy 21?
Duodenal atresia showing double bubble
Differentiate between edwaed and patau
Both club foot
- edward: small mouth - horseshoe kideny
- patau: small eye - cleft lip and palate
What is the most vaunlrable time for teratogenic agent
4-10 weeks (17-56) post conception
Give example of teratogenic agents
Alcohol, anti-epilipsy-warafarin, thalidomide, tobacco
Define Category A:
Human studies failed to demonstrate risk (first trimester)
Define category B:
Animal reproduction studies failed demonstrate risk, or there’s risk but, well controlled
Define Category C:
Animal studies say there is SE, no studis on human (but benifits > risk)
Define Category D:
Human risk but (benifits > risk)
Define Category X:
Animal + human studies = risk (risk >benefits)
What are the clinical features of fetal alcohol syndrome
Thin upper lip, low nasal bridge, short noese, smooth filturm
What are the oucomes of warfarin during pregnancy
Skeletal and craniofascial anomalies
What does thalidomide do during pregnancy
Phecomelia
What are the most important features of conginital vericella
1- skin loss & scarring
2- micropthalmia
3- limb defects
4- cortical atrophy
What are the triad of conginital rubella
1- microcephaly
2- PDA
3- cataracts
What are the most common mainfestation of CMV?
1- permanent hearing loss
2- hepatosplenomegaly
3- mental retardation
What is the similarity of syphlis and CMV
Hepatosplenomegaly
What is the pathognoim sign for conginital syphlis
1- Petchial rash in soles and palms
2- wimberger sign (under-calcification of end plate)
In severe cases of conginital syphlis, there could be
Hydrops fetalis
What is the anomaly associated with valporic acid
Spina bifidaa
Diff between omphalocele and gastroschiasis
Omphalo: intestine outside in sac
Gastroscasis: intestine outside عايمه seen on US
Which one is associated with other abnormalities? omphalocele and gastroschiasis
Omphalocele
What is the outcome of conginital diaphragmatic hernia?
Compress liver, impair lung maturation (hypoplasia)
Can you see cleft palate in US?
No, only celft lip
How do we screen for abnormalities in the first trimester
1- Hx: maternal age
2- blood: B-hcg - serum markers - PAPPA
3- US: NT
How do we screen for abnormalities in the 2nd trimester
1- Blood (16-20): AFP - HCG - Estriol 3
2- anatomy scan (18-22)
What is the diagnostic (NOT screening) for congenital anomalies
Free fetal DNA - CVS & amniocentesis
CVS when do we do it
Before 15 weeks
When do we do amniocentesis
After 15wks
NT is highly associated with
Triosomy 21
What is the role of amniotic fluid
Protection, allow freedom of movement, avoid sticking baby to the placenta
What is the source of amniotic fluid
1st trimester: fetal tissue
2nd trimester: urine
How to measure amniotic fluid levels
- AFI (8-12)
- single deepest pocket (2-8)
Define oligohydraminos
AFI <6 or SDP<2
Define anyhraminos:
No amniotic fluid
Define polyhydraminos
AFI >18 - SDP >8
What are the causes of oligohydraminos
1- idiopathic
2- ROM
3- TTTS
4- IUGR\placenta insufficency
