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Obstetrics > Common congenital abnormalities > Flashcards

Common congenital abnormalities Flashcards

1
Q

What is the most common genetic cause of mental retardation?

A

Down’s syndrome

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2
Q

What can Down’s syndrome be caused by? (3)

A

94% - Non-dysjunction
5% - Robertsonion translocations
1% mosaicism

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3
Q

Trisomy 18 is known as?

A

Edward’s syndrome

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4
Q

Trisomy 13 is known as?

A

Patau syndrome

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5
Q

What are Edward’s and Patau associated wtih

A

multiple congenital defects and death occurs in utero or shortly after birth

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6
Q

When is Down’s usually picked up and using what?

A

1st trimester using combined test
or
at birth due to characterisic appearance and hypotonia - chromosomal studies

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7
Q

What are the RF for Down’s (3) increased…

A
  1. advanced maternal age
  2. previous affected child
  3. Increased NT, low PAPP-A, low AFP and high hCG, and structural abnormlaities especially cardiac
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8
Q

What are the clinical features of the face in the Down’s syndrome? (6)

A
  1. upslanting palpebral fissures
  2. epicanthic folds
  3. Brushfield spots in iris (ring of iris speckles)
  4. protruding tongue
  5. small ears
  6. round / flat face
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9
Q

What are the other features of Down’s syndrome?

A
  1. flat occiput
  2. single palmar creases - pronounced sandal slap
  3. Hypotonia
  4. Congenital heart defects
  5. duodenal atresia
  6. Hirschsprung’s disease
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10
Q

what type of genetic disorder is CF?

A

Autosomal recessive

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11
Q

What can CF cause

A

increased viscosity of secretions in the lung and pancreas

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12
Q

How are patients who have CF typically picked up? (3)

A

early in life due to failure to thrive or at birth via screening or failure to pass meconium

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13
Q

What is there a defect in in CF?

A

CFTR (cystic fibrosis transmembrane conductance regulator) which codes c-AMP regulated chloride channels.

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14
Q

What does the defective channel mean in CF?

A

excretes less chloride into the airway lumen and has a 3x increase in sodium absorption and water follows sodium

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15
Q

What are the pulmonary features of CF

A

recurrent chest infections in childhood -> early onset bronchesctasis.

later = resp failure, clubbing, cor pulmonale

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16
Q

What are the pancreatic features of CF?

A

steatorrhoea,
malnutrition and deficiniency of soluble minerals (A,D,E,K)
diabetes

17
Q

What are the other features of CF?

A 
failure to pass meconium at birth
male inferitility (absent vas deferens) and female 
gall stones, cirrhosis, peptic ulcer, rectal prolapse and nasal polyps
18
Q

What is the salt content like in CF?

A

it is increased.

19
Q

What is the gold standard investigation in CF?

A

sweat test (>60 mmol/L)

20
Q

What can early CXR identify in CF?

A

upper lobe bronchiectasis which will become diffuse later

21
Q

What will lung function tests reveal in CF?

A

airflow obstruction with increased residual volume

22
Q

What are common organisms that can colonise in CF patients? (4)

A
  1. Staph aureus
  2. Pseudomonas aeruginosa
  3. Burkholderia capecia
  4. Aspergillus
23
Q

What is the management for CF patients? (6)

A

regular at least twice daily chest physio and postural drainage and deep breathing excercises.
prophylactic flucloxacillin for staph infections
high calorie diet with high fat intake
vitmain supplementation
pancreating enzyme supplementation
heart and lung transplant

24
Q

What can open NTDs be defined as?

A

involve the entire CNS and neural tissue is expsoed with associated leakage of CSF

25
Q

What can closed NTDs be defined as?

A

localised and confiend to the spine with brain rarely affected
neural tissue not exposed althrough the skin covering the defect may be dysplastic

26
Q

What is absent in anencephaly

A

cranial vault

27
Q

What is raised in open NTDs

A

AFP

28
Q

What do you give to a woman with a previous child with an NTD?

A

higher dose of folic acid

29
Q

What are examples of teratogenic drugs? AAACCCDLMSTTTVW

A 
ACE inhibitors 
Alcohol 
Aminoglycosides 
Carbamazepine 
Chloramphenicol - 'Grey baby' syndrome 
Cocaine 
Diethylstilbesterol 
Lithium 
Maternal dm
smoking 
tetracyclines
thalidomide
trimethoprim
valproate
warfarin
30
Q

What is the most suceptible period for the developign embryo

A

3-8 weeks after conception the critical window

31
Q

What is the deifinition of rhesus iso-immunosiation?

A

maternal antibody response against feotal red cell antigen entering her circulation - passage of antibodies into the foetus leading to heamolysis

32
Q

What is the most important antigen of the rhesus system?

A

D antigen

33
Q

What combination of antigens make a person rhesus D positive

A

DD and Dd

34
Q

What combination of alleles make a person rhesus D negative

A

dd

35
Q

When will mothers who have been exposed to rhesus D antigen recognise it as foreign?

A

If they are rhesus D negative

(if child is Rh +ve)

can cause haemolysis in fetus

36
Q

What are the mild, moderate and severe clinical manifestations of resus d imminosiation

A 
mild = neonatal anaemia (haemolytic disease of the newborn) 
moderate = neonatal jaundice
severe = in utero anaemia -> cardiac failure ascites and oedema (fluid accumulated in 2 or more compartment within the foetus)
37
Q

What does NICE advice to prevent rhusus D

A

give anti-D to non-sensitised Rh -ve mothers at 28 and 34 weeks

38
Q

Why is anti-D prophylaxis?

A

once sensitisation has occured it is irreversible

39
Q

What are the two investgations that you take from the cord blood?

A

coomb’s test and Kleihauer test

Obstetrics (4 decks)

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