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EMS > Lecture 32: Newborn screening > Flashcards

Lecture 32: Newborn screening Flashcards

1
Q

What is screening?

A

Screening is a process of identifying apparently healthy people who may be at increased risk of a disease or condition. They can then be offered information, further tests and/or treatment to reduce their risk and/or complications.

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2
Q

True or false: Screening is 100 % sensitive and specific

A

False

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2
Q

True or false: Screening is 100 % sensitive and specific

A

False

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3
Q

What are the 5 principles of the Wilson and Jungner criteria?

A

1.Disease must be sufficiently common
2.Natural history must be known
3.Early therapeutic intervention beneficial
4.Acceptable and affordable screening test
5.Diagnostic confirmatory test

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4
Q

When are babies first tested after birth?

A

5 days (5-8 exceptional)

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5
Q

Summarise new-born screening in the UK:

A

Most samples taken in community by midwives

Regional laboratories perform tests and report results

Standards set by The UK Newborn Screening Programme Centre

Nature of the programme defined by The National Screening Committee

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6
Q

What type of sample is taken at a screening early on?

A

Blood spot test

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7
Q

For positive babies, how quickly is it expected for babies to be on treatment with referral?

A

Within 3 days

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8
Q

What happens if a baby identified as missed?

A

A blank screening blood spot test is sent off

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9
Q

What does the new-born screening screen for?

A

-Congenital hypothyroidism
-Sickle cell and Hb disorders
-CF (cystic fibrosis)
-PKU (phenylketonuria)
-MCADD (medium chain acyl -CoA dehydrogenase deficiency)
-MSUD (maple syrup urine disease)
-IVA (isovaleric acidaemia)
-Homocystinuria – non-pyridoxine responsive
-GA1 (glutaric aciduria type 1)

-SCID (severe combined immunodeficiency)
(pilot in six laboratories)

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9
Q

What does the new-born screening screen for?

A

-Congenital hypothyroidism
-Sickle cell and Hb disorders
-CF (cystic fibrosis)
-PKU (phenylketonuria)
-MCADD (medium chain acyl -CoA dehydrogenase deficiency)
-MSUD (maple syrup urine disease)
-IVA (isovaleric acidaemia)
-Homocystinuria – non-pyridoxine responsive
-GA1 (glutaric aciduria type 1)

-SCID (severe combined immunodeficiency)
(pilot in six laboratories)

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10
Q

What is Phenylketonuria?

A

A genetic condition that causes increased levels of phenylalanine (an amino acid) in the body.

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11
Q

How rare is PKU?

A

Affects 1: 10,000 Caucasian births

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12
Q

How does it affect a baby if untreated?

A

Severe intellectual disability
(Excellent prognosis if treated from birth)

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13
Q

What is the screening test for PKU?

A

Screening test: bloodspot phenylalanine

Confirm diagnosis with plasma phenylalanine measurements
no need to measure enzyme or DNA

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14
Q

How does newborn screening in the UK differ from other countries?

A

Profile of diseases
Day of life of test
Not always provided by the state

15
Q

5 things found in the history of untreated PKU?

A

Severe intellectual disability
seizures, tremors
spasticity
behavioural problems, irritability
eczema in childhood

15
Q

5 things found in the history of untreated PKU?

A

Severe intellectual disability
seizures, tremors
spasticity
behavioural problems, irritability
eczema in childhood

16
Q

How do you treat PKU?

A
  1. Low phenylalanine diet
    (Requires careful monitoring
    Risk tyrosine insufficiency
    Risk vitamin and trace element deficiencies)
  2. biopterin supplementation (sapropterin)
    (Kuvan (recently approved by NICE for certain patients, starting imminently))
17
Q

What is congenital Hypothyroidism?

A

Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability.

18
Q

How many people does congenital Hypothyroidism affect?

A

Affects 1: 1,500 UK births

19
Q

How is congenital hypothyroidism treated?

A

Treatment with thyroxine, carefully monitored

20
Q

How is congenital Hypothyroidism screened for?

A

Screening test: bloodspot TSH
Confirm diagnosis with plasma thyroid function tests

21
Q

What is MCADD?

A

Autosomal recessive inherited defect of fatty acid oxidation

Body cannot use its own fat reserves to produce energy in periods of fasting or metabolic stress

Hypoglycaemia and metabolic decompensation develop, which may result in seizures, brain damage or death

22
Q

What is screened for when investigating MCADD?

A

Screening test: bloodspot C8 and C8/C10 ratio
Confirmation of diagnosis:
Bloodspot acylcarnitines, urine organic acids, DNA analysis

23
Q

What is the prognosis of MCADD if treated?

A

Prognosis: good if decompensation avoided. ‘Safe’ times between meals increases as children grow older

24
Q

How is MCADD treated?

A

Avoidance of fasting

25
Q

How many births does MCADD affect?

A

Affects 1:10,000 UK births

26
Q

What is Cystic fibrosis?

A

A genetic disorder, in which the lungs and the digestive system get clogged with mucus.

27
Q

How many births does CF affect?

A

Most common inherited, 1:2,500

28
Q

Why was screening for CF initially controversial?

A

Not all cases detected by IRT-DNA protocol
Doubts about clinical benefits of early treatment
Identification of less severe variants
Identification of heterozygotes

29
Q

What is the treatment for CF?

A

New drugs for CF will revolutionise treatment

Modulator therapy – drugs which modulate the function of the CFTR protein, allowing it to work more effectively

These include drugs such as ivacaftor, elexacaftor and tezacaftor

30
Q

What is sickle cell disease?

A

An inherited blood disorder where red blood cells (RBCs) become sickle/crescent shaped. It causes frequent infections, swelling in the hands and legs, pain, severe tiredness, and delayed growth or puberty

31
Q

What can be detected in relation to haemoglobinopathies in a screening?

A

detect carriers and compound heterozygotes with HbC/DPunjab/E/OArab/β-thal
β-thalassaemia major detected

32
Q

How many births are affected by sickle disease?

A

Sickle disease affects 1:2000 babies (up to 1 in 300)

33
Q

What happens if sickle cell disease goes undiagnosed?

A

20% children with undiagnosed SCD may die during first 2 years of life
Acute infection
Acute splenic sequestration
Cerebrovascular accident – stroke

34
Q

what does screening for sickle cell disease provide?

A

Initiate prophylactic penicillin
Parental education

35
Q

What can be screened by Tandem Mass Spectrometry?

A

Has the potential to detect up to ~ 50 IEM

Amino acid disorders

Fatty acid oxidation defects

Organic acidaemias

36
Q

What is maple syrup Urine disease?

A

Maple Syrup Urine Disease; defect in branched chain 2-keto acid dehydrogenase complex

EMS (54 decks)

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