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Paediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

Guthrie Card Age and Tests

A 
Day 5-9 once feeding established 
Cards Help Medics To Pick up Sickness
Cystic Fibrosis
Hypothyroidism
Sickle Cell Anaemia
Thalaessaemia 
Phenylketonuria
MCAD deficiency
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2
Q

Purpose 24h routine check newborn

A

1) Detect congen abnormalities not detected at birth e.g. CnHD, developmental dysplasia of hip
2) Check for potential problems arising from maternal disease/ family disorders

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3
Q

Median birthweight of newborn

A

3.5kg

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4
Q

Lesions in newborns that resolve sponteneously

A

Periph cyanosis of hands and feet (common 1st day)
Traumatic cyanosis
Subconjunctival haemorrhages (occur during delivery)
Breast enlargement
Epstein’s pearls (small white pearls along midline of palate)
White vaginal d/c or small w/dwal bleed
Capillary haemangioma
Neonatal urticaria
Milia (white pimples on nose/ cheeks)
Mongolian blue spots
Umbilical hernia (normally resolves in 2-3y, no tx)
Positional talipes

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5
Q

Sig abnormalities detected on routine newborn exam

A 
Portwine stain
Strawberry naevus
Front lower incisors
Extra digits
Heart murmur 
Midline abnormality over spine/ skull
Palpable or large bladder
Talipes equinovarus
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6
Q

RFs DDH

A

Girls
Positive FHx
Birth is breech
Infant has NM disorder

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7
Q

Consequences vitamin K deficiency

A

Haemorrhagic disease of the newborn

Vit K def -> reduced production of coagulation factors

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8
Q

Features haemorrhagic disease of newborn

A

Disorder can occur early (during 1st week) or late (1-8 wks)
Most affected infants mild (bruising, haematemesis, melaena, prolonged bleeding umbilical stump)
Severe: ICH -> permanent disability or death in 1/2

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9
Q

RFs HDN

A

Formula = rich
Breast milk = poor (HDN can occur in purely breastfed infants)
Increased risk in mothers taking AEDs
Infants w liver disease

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10
Q

Prevention HDN

A

Vitamin K injection (IM immediately after birth)
Can be given orally: 3 doses in first 4 weeks
Mothers on AEDs: oral prophylaxis from 36 weeks and IM injection to newborn straight after birth

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11
Q

MCAD

A

Medium-Chain-Acyl CoA- def
Rare inborn error of fatty acid metabolism
Causes acute illness + hypoglycaemia after fasting
May also present as acute life-threatening episode

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12
Q

Screening for CF

A

Measure serum immunoreactive trypsin (raised if pancreatic duct obstruction)
If raised -> DNA analysis (reduce false +ve rate)

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13
Q

Newborn hearing screening

A

Universal screening
Evoked otoacoustic emission testing
|f EOAE abnormal, test with automated auditory brainstem response audiometry
If abnormal -> refer to paediatric audiologist

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14
Q

Amniocentesis age

A

> 15 weeks

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15
Q

CVS age

A

> 10 weeks

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16
Q

Amniocentesis can test for

A

Foetal infection (PCR)
Chromosome: trisomy 21/18/13, fragile X
DNA analysis: CF, sickle cell, Duchenne, haemophilia
AFP and Ach for neural tube defects
Bilirubin: rhesus disease
Enzyme analysis: inborn errors metabolism

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17
Q

Foetal blood sampling can test for

A

Foetal Hb for anaemia
Foetal infection serology
Foetal blood transfusion

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18
Q

CVS can test for

A

Chromosome/ micro-array and DNA analysis
Foetal infection (PCR)
Enzyme analysis of inborn error of metabolism

19
Q

Preimplantation genetic diagnosis

A

IVF allowing genetic analysis of cells from developing embryo before transfering to uterus

20
Q

Fetoscopy

A

minimally invasive surgery e.g.laser photo-coagulation of communicating vessels in TTTS

21
Q

Free foetal DNA from maternal blood

A

Foetal gender

Rhesus status

22
Q

Antenatal screening

A

Down’s syndrome (all women >35)
Sickle cell disease: universal
Thalassaemia/ haemoglobinopathies: universal
Congen abnormalities: routine USS at 18-20 wks

23
Q

School entry screening

A

Vision: Snellen chart
Hearing: school entry sweep to detect progressive hearing loss

24
Q

Maternal antenatal bloods

A

Blood group, rhesus status + antibodies
Infection (Hep B/C, syphilis, rubella, HIV)
Neural tube defects (raised MAFP + USS)
Down’s syndrome (AFP + US)

25
Q

Maternal antenatal bloods pros and cons

A

Pro: safe, non-invasive
Con: doesn’t provide direct evidence re foetus

26
Q

US conditions screened

A 
gestational age
multiple pregnancy
structural malformation (anencephaly, spina bifida, cardiac, diaphragmatic hernia, exomphalos/ gastroschisis, hydrops etc)
foetal growth
oligohydramnios/ polyhydramnios
27
Q

Amniocentesis pros and cons

A

Pro: genetic level screening, screening for inborn errors of metabolism
Con: invasive, small chance miscarriage (1%), can only be done after 15 wks

28
Q

CVS pros and cons

A

Pros: can be performed v early in pregnancy (9-12 wks)
Cons: invasive, risk miscarriage 1-2%, infection, bleeding

29
Q

Down’s syndrome genetics

A

95% Trisomy 21
4% translocation
1% mosaicism

30
Q

Incidence Down’s syndrome

A

1/650 births

31
Q

Craniofacial features Down’s

A 
Round face, flat nasal bridge
Upslanted palpebral fissures (eyelids)
Epicanthic folds
Brushfield spots
Small ears
Small mouth, protruding tongue
Flat occiput and 3rd fontanelle
32
Q

Other anomalies Downs

A 
Short neck 
Single palmar creases
Wide sandal gap
Hypotonia
CnHD (40%)
Duodenal atresia
Hirschsprung's disease
33
Q

Downs late medical problems

A 
Delayed motor milestones
Mode-severe learning difficulties
Small stature
Infection susceptibility
Hearing + visual impairment 
Epilepsy
Hypothyroidism
Leukaemia risk
Alzheimers disease
34
Q

Turner’s syndrome genetics

A

45X

35
Q

Antenatal identification Turner’s

A

Oedema of neck/ hands/ feet

36
Q

Tx Turner’s

A

Growth hormone and oestrogen at time of development of 2y sexual characteristics

37
Q

Turner’s clin signs

A 
Wide spaced nipples
Shield chest
Wide carrying angle 
Short stature (cardinal feature) 
Lymphoedema of hands and feet in neonate
Thick neck/ neck webbing
38
Q

Complications Turner’s

A 
CnHD: aortic coartation
Delayed puberty
Ovarian dysgenesis -> infertility
Hypothyroidism
Renal abnormalities
Normal intellectual function in most
39
Q

William’s syndrome genetics

A

Deletion long arm chromosome 7

40
Q

Clin features William’s syndrome

A 
WILLIAMS
Weight: low at birth, slow to gain
Iris: stellate iris
Long philtrum
Large mouth
Increased Ca2+
Aortic stenosis (and other stenoses)
Mental Retardation ("cocktail party chatter")
Swelling around eyes
41
Q

Fragile X genetics

A

Trinucleotide expansion in FMR1 gene

42
Q

Fragile X clin features

A 
Males more severely affected vs females 
Delayed dvpmnt speech/ language by age 2
Mild-moderate intellectual disability (M>F)
1/3 features ASD, others attention def disorder
Seizures (15%)
Macro-orchidism (post-pubertal)
Macrocephaly 
Lax joints
43
Q

Fragile X facies

A

Long, narrow face
Large ears
Prominent jaw and broad forehead
(Unusually flexible fingers, flat feet, enlarged testes)

Paediatrics (7 decks)

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