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Obs > Antenatal and newborn screening: > Flashcards

Antenatal and newborn screening: Flashcards

1
Q

Outline the WHO criteria for screening programme and its 4 main areas:

A

Knowledge of the disease:

  • Condition should be important
  • There should be a latent or early symptomatic stage
  • The natural course of the condition should be understood

Knowledge of test:

  • Suitable test or examination
  • Test acceptable to population
  • Case-finding should be a continuous process

Treatment for disease:

  • Accepted treatment for patients with recognised disease
  • Facilities for diagnosis and treatment available
  • Agreed policy concerning whom to treat as patients

Cost considerations:
- The cost of case finding (including diagnosis and subsequent treatment_ should be balanced by the expenditure on care as a whole

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2
Q

Define screening:

A

The process of identifying apparently health individuals who may be at an increased risk of a disease or condition. They can then be offered information, further tests and appropriate treatment to reduce their risk, and/or any complications from the disease or condition

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3
Q

Define ‘detection rate’:

A

Proportion of affected individuals who will be identified by screening test

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4
Q

Define ‘false positive rate’:

A

Proportion of unaffected individuals with a higher risk/screen positive results

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5
Q

Define ‘false negative rate’:

A

Proportion of affected individuals with a low risk/screen negative result

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6
Q

Outline the 7 steps of the screening pathway:

A

1) Identify individuals to be screened
2) Inviting individuals for screening
3) Giving information to individuals and encouraging uptake
4) Undertaking accurate screening
5) Acting of screening results (referral, diagnosis, intervention and treatment)
6) providing support and follow up
7) Optimising health outcomes

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7
Q

What pre-test information should be provided to an individual prior to screening?

A
  • Condition being screened for
  • When & how the test is carried out
  • How reliable the test is
  • Different possible results and their meanings
  • Options if the test is positive
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8
Q

List the antenatal screening programmes:

A
  • Foetal Anomaly (Down’s, Edwards, Patau’s)
  • Infectious disease
  • Haemoglobinopathies (Sickle cell and thalassaemia)
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9
Q

List the newborn screening programmes:

A
  • Newborn blood-spot screening programme
  • Newborn hearing programme
  • Newborn and 6-8 week infant physical examination programme
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10
Q

What disease are typically covered in the ‘Newborn blood-spot’ screening programme:

A
  • CF
  • Congenital hypothroidism
  • Sickle cell disease
  • Inherited metabolic diseases:
    • Phenylketonuria
    • MCADD
    • Maple Syrup disease
    • Isovaleric Acidaemia
    • Glutaric Aciduria Type 1
    • Homocystinuria
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11
Q

In Downs Syndrome, what chromosomal abnormality is present? What health risks are those with Downs Syndrome at?

A

Extra copy of chromosome 21.

40-45% have heart defect. Increased incidence of childhood leukaemia, thyroid disorders and Alzheimers.

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12
Q

In Edwards syndrome, what chromosomal abnormality is present?

A

Extra copy of chromosome 18

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13
Q

What is the life expectancy of those with Edwards syndrome? What abnormalities are often present?

A

Most babies die before, during or shortly after birth.

Wide range pf medical problems:

  • Heart problems
  • Unusual facial features
  • Major brain abnormalities
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14
Q

In Pataus Syndrome, what chromosomal abnormality is present?

A

Extra copy of chromosome 13.

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15
Q

What is the life expectancy of those with Pataus syndrome? What abnormalities are often present?

A

Most babies will die before, during or shortly after birth.

Multiple severe abnormalities:

  • 80% congenital heart defect
  • Abdominal wall defects
  • Urogenital malformations
  • Hand and feet abnormalities
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16
Q

Outline the weeks involved in each trimester:

A

1st: 0-13
2nd: 14-27
3rd: 28- birth

17
Q

What screening is performed in the first trimester? And when is it offered?

A
  • Nuchal translucency
  • Serum testing

Offered when crown-rump length is 45-84mm (around 12 weeks).

18
Q

What is the normal range of nuchal translucency?

A

2.5-3.5mm

19
Q

What serum results from the 1st trimester indicate abnormalities?

A

PAPP-A:
- Abnormal if low

Free Beta hCG:

  • Too high: Downs (T21)
  • Too low: Edwards (T18)
20
Q

When is 2nd trimester screening performed? What is the test called and what does is measure?

A

Offered when combined screening in first -trimester not available (late booker or NT not obtained)

Called the Quadruple test.

Offered around 17weeks.

Serum only:

  • AFP (if high: ?neural tube defects, If low: ?Downs)
  • Total Beta hCG
  • Oestriol
  • Inhibin A
21
Q

What factors are taken into account with the results calculation?

A
  • Scan measurements
  • Mother DOB
  • Serum markers
  • Levels of some markers affected by ethnicity, smoking and diabetes
  • Mothers weight
22
Q

If a positive screening results is found on during the combined or quadruple tests, what should be done?

A

1) Telephone to screening midwives
2) Appointed to foetal medicine unit within 3 days
3) Offered Diagnostic tests: CVS and amniocentesis

23
Q

When are scans scheduled during normal pregnancy and why are they performed?

A

First scan - 10-14 weeks:

  • Dating of pregnancy
  • Confirming viability
  • Multiple pregnancy
  • Nuchal Translucency test

Second scan - 18- 20+6 weeks:

  • Structural abnormalities
  • Gender
  • Conditions which may benefit from treatment before birth
  • Plan delivery in an appropriate hospital/centre
  • Optimise treatment after the baby is born
  • Provide choices for the woman and her family about continuance or termination of pregnancy
24
Q

When can infectious disease screening be offered?

A

At any stage, but ideally taken at the earliest opportunity.

25
Q

What does the infectious disease screen screen for?

A
  • HIV
  • Hep B
  • Syphilis

(Screening is for the disease in the mother. The aim of future management is to prevent spread to the baby with use of vaccinations and prevent congenital complications.

26
Q

What is the inheritance patter of Alpha/beta thalassaemias and sickle cell disease?

A

Recessive inheritance.

27
Q

What is the change of these disease in a child if both the parents are carriers?

A

25%

28
Q

What is a sickle cell crisis caused by?

A

It is a painful crisis when the sickle red blood cell block capillaries thus depriving tissue of oxygen.

29
Q

What is the life expectance in Alpha Thalassaemia major?

A

It is incompatible with extrauterine life.

(occurs due to insufficient production of alpha chains which means that Beta-chains predominate and form tetramers which are poor carriers of O2)

30
Q

What is the life expectance of Beta-thalassaemia major and what treatment does it require?

A

Not sure what life expectancy is but. Results in life threatening anaemia and required blood transfusions every 4-6 weeks and iron chelation therapy 5-7 times weekly.

31
Q

When is Haematological screening advised?

A

Haematological test (not GENETIC).

Recommended in early pregnancy (8-10 weeks) or pre conceptually in those who are at risk.

Screening and offer of diagnosis should be done by 12 +6 weeks.

32
Q

When, how and why is the ‘new-born blood spot’ screening test performed?

A

When - 5-8 days of age

How - Heel prick

Why - so that early treatment to prevent irreversible damage.

33
Q

Why are the 6 inherited metabolic diseases screened for?

A

Because they can results in sudden illness, may be life-threatening and lead to developmental problems

34
Q

When is ‘hearing screening’ performed and how?

A

Prior to discharge home or within 4 weeks of birth.

Automated otoacoustic emission identifies response in cochlea to soft sounds from earpiece.

35
Q

Why is the newborn and infant physical examination (neonatal assessment) done/what does it specificly aim to identify (4 things)?

A
  • Eye problems - including congenital cataracts
  • Congenital heart disease
  • Developmental dysplasia of the hips
  • Undescended testes
36
Q

When are the 2 times which ‘newborn and infant’ physical examinations are performed?

A

First examination - within 72 hours of birth

Second examination - by GP at 6-8 weeks

37
Q

What measurement of foetal US is used to identify the foetus’ age?

A

Crown rump length (CRL) [basically head to bum length]

38
Q

How is the gestational weight estimated?

A

By using polynomial equations containing the parameters (from US):

  • Biparietal diameter (BPD)
  • Femur length (FL)
  • Abdominal circumference (AC)

Obs (11 decks)

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