Newborn Screening Flashcards

1
Q

When does newborn screening occur?

A

Baby should be examined within a week of birth to screen for abnormalities and answer any questions the mother might have.

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2
Q

What information is needed prior to commencing a newborn screen?

A

Birth weight
Birth and pregnancy normal
Is mother Rh-
Examine from Head to Toe

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3
Q

What features do we check on the head of an neonate?

A

Head – Circumference, shape, fontanelles
Eyes – red reflex (absence in cataract and retinoblastoma), cornel opacities and conjunctivitis
Ears – shape, position (relative to eyes), ensure oto-acoustic screening is done.
Nose – when pressed should show jaundice in white babies. Shut mouth and listen for breathing out the nose – testing for choanal atresia.
Complexion – cyanosed, pale, jaundiced or ruddy (polycythaemia)
Mouth – look inside, insert a finger – is palate intact and is suck good?
Face – does it look normal, dysmorphism can be difficult just after birth due to puffy face.

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4
Q

What should be inspected in the arms and hands of an neonate?

A

Arms and Hands – single palmer crease (can be trisomy 21), waiter’s tip, erb’s palsy, number of fingers. Clinodactyly – 5th finger curved back towards the ring finger (can be trisomy 21).

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5
Q

What should be inspected in the thorax of a neonate?

A

Thorax – watch for respirations, note grunting and intercostal recessions. Palpate the precordium and apex beats. Listen to the heart and lungs and assess the vertebral column for neural tube defects.

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6
Q

What should be inspected in the abdomen of an neonate?

A

Abdomen – expect to feel the liver – important to assess for hepatomegaly as a sign of heart failure. Inspect umbilicus, lift skin to assess turgor. Inspect genitalia and anus – are the orifices patent – ensure in the first 24hours the baby passes, urine (consider posterior urethral valves) and stool (Hirschsprung’s or cystic fibrosis). Assess for hypospadias, and descent of the testicles. Neonatal clitoris usually quite large but shouldn’t be too large. PV bleeding may be normal due to maternal oestrogen.

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7
Q

What should be inspected in the legs of an neonate?

A

Legs – test for developmental dysplasia of the hip. Check femoral pulses. Note any talipes (club foot) and number of toes.

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8
Q

What should be inspected in the buttocks/sacrum of an neonate?

A

Buttocks/sacrum – check for an anus, Mongolian spots (blue and harmless), tufts of hair and dimples suggests spina occulta.

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9
Q

How should you assess the CNS of a neonate?

A

CNS – assess muscle tone, posture, activity and check some reflexes.

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10
Q

What is a strawberry naevus?

A

Strawberry Naevus – not always present at birth but can appear and grow. If large or in critical area, then give early propranolol to shrink the lesion.

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11
Q

What are milia?

A

Milia – white-cream papules found on face, resolve spontaneously.

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12
Q

What is erythema toxicum?

A

Erythema toxicum (neonatal urticaria) – harmless red blotches with a central white papule, they last around 24hours.

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13
Q

What are stork marks?

A

Stork Mark – capillary dilation anywhere from the neck up, blanch on pressure and some fade with time.

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14
Q

Is desquamtion an issue in the neonate?

A

Desquamation – common in postmature babies not an issue can use olive oil.

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15
Q

Is it normal to have minor facial haemorrhages and cyanosis?

A

Minor facial haemorrhage and cyanosis – reflect suffusion of the face during delivery.

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16
Q

Is it normal to see swollen breasts in a neonate?

A

Swollen breasts – occur due to maternal hormones and gradually subside. Treat with antibiotics if infected.

17
Q

What can causes a sticky eye in a neonate?

A

Sticky eye – usually due to blocked tear duct, take swabs to exclude ophthalmia neonatorum. Can also be vertically transmitted STI.

18
Q

What can causes a red stained nappy in a neonate?

A

Red-stained nappy – usually urinary urates, blood from the cord or baby’s vagina – oestrogen withdrawal bleed.

19
Q

What is the heel prick test and what does it test for?

A

Neonatal blood spot screening (previously called the Guthrie test or ‘heel-prick test’) is performed at 5-9 days of life.

The following conditions are currently screened for:
• Congenital hypothyroidism
• Cystic fibrosis
• Sickle cell disease
• Phenylketonuria
• Medium chain acyl-CoA dehydrogenase deficiency (MCADD)
• Maple syrup urine disease (MSUD)
• Isovaleric acidaemia (IVA)
• Glutaric aciduria type 1 (GA1)
• Homocystinuria (pyridoxine unresponsive) (HCU)

20
Q

What is phenylketonuria?

A

Mutation in phenylalanine hydroxylase gene leading to absent or reduced activity. This causes reduced CNS dopamine, reduced protein synthesis and demyelination.

21
Q

How does phenylkeonturia present?

A
Gradual mental impairment
Fair hair and blue eyes
Fits
Eczema
Musty urine
Prone to depression, anxiety, phobic tendencies isolation, and less masculine image
22
Q

What investigations should be undertaken in a neonate suspected of having phenylketonuria?

A

Tested in UK heel prick screening test with Guthrie card

Bloods looking for hyperphenylalanineaemia

23
Q

How is phenylketonuria managed?

A

Expert help
Diet involving protein substitute that lacks phenylalanine and rich in tyrosine
Keep blood phenylalanine levels below 360umol/l

24
Q

What is homocystinuria?

A

Rare recessive disease due to deficiency of cystathionine beta synthase. This results in toxic accumulation of homocysteine.

25
Q

What features occur as a result of homocystinuria?

A

Features
Fine, fair hair
Similar to Marfan’s - arachnodactyly etc
Learning difficulties, seizures
Downwards (inferonasal) dislocation of lens
Increased risk of arterial and venous thromboembolism
Malar flush, livedo reticularis

26
Q

How is a diagnosis of homocystinuria made?

A

Diagnosis is made by the cyanide-nitroprusside test, which is also positive in cystinuria.

27
Q

How is homocystinuria managed?

A

Treatment is vitamin B6 (pyridoxine) supplements.