1st and 2nd trimester screening

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Problem based learning

Antenatal screening programme

Factual learning objectives

What is screening?

NICE guidelines

Maternal screening:

Haemoglobinopathies

Infectious diseases

Gestational diabetes

Fetal anomaly screening

Ultrasonography

Downs syndrome screening

Other learning opportunities and discussion points

Ethical issues around screening

Explanation skills and problems

Different roles in MDT

Children with disabilities

Communicating risk

What is screening?

‘Screening may be described as the process of looking at a population perceived to be at risk from a condition in an attempt to identify those at higher risk, in whom some intervention may be made.’

Not diagnostic

Looking at general asymptomatic population

WHO screening criteria

The condition should be an important one.

There should be an acceptable treatment.

Facilities for diagnosis and treatment should be available.

There should be a recognised latent or early symptomatic stage.

There should be a suitable test which has few false positives and few false negatives.

The test or examination should be acceptable.

The cost, including diagnosis and subsequent treatment, should be economically balanced.

Discussion point - screening

Advantages of screening

Problems with screening

Issues with this case

Age of patient

Involvement of partner

Understanding of issues

Screening programme

In England, run by UK National

Screening committee.

Antenatal:

Fetal anomaly screening programme

Infectious diseases in pregnancy

Sickle cell and thalassaemia screening programme

Gestational diabetes

Newborn:

Newborn and infant physical examination

Newborn blood spot

Newborn hearing screening

Counselling

Mothers should be aware of all options available to them, including the option to decline testing

Mothers should be aware of the benefits and limitations of screening tests and should understand the meaning of results to be obtained.

Discussion point – giving information

How much information do mothers want?

How do we give this?

Who should give it?

When do we give this?

Does everyone need the same information?

Infectious diseases screening

Who all women

When at booking

Why enable treatment, minimise risk of transmission

What blood tests

HIV

Hep B

Syphilis

Rubella susceptibility

Haemoglobinopathy screening

Who:

 all women in units defined as high prevalence (fetal prevalence of sickle cell disorder greater than 1.5 per 10,000 pregnancies)

In low risk units to women from high risk origins

For all women inspection of blood indices

When:

At booking

Why:

Enable treatment, identify neonates at risk

What:

Blood test for haemoglobinopathy

Red cell indices

Discussion point – ethical issue of justice and equality

Is it ethical to offer screening based on prevalence in an area?

What about women who are in area with low prevalence that don’t get screened?

What about women in a high risk area but that are personally low risk that get put through screening process?

Gestational diabetes

Who:

 body mass index above 30 kg/m2 previous macrosomic baby weighing 4.5 kg or above previous gestational diabetes family history of diabetes family origin with a high prevalence of diabetes -

South Asian, Black Caribbean, Middle Eastern

Why: identify to enable optimum monitoring and treatment

What:

Previous gestational diabetes - early self-monitoring of blood glucose or oral glucose tolerance test at 16–18 weeks, followed by OGTT at 28 weeks if the first test is normal

Otherwise - OGTT to test for gestational diabetes at

24–28 weeks

Fetal anomaly screening

All women should be offered:

A screening test for Down's syndrome that meets agreed national standards

An ultrasound scan between 18 – 20 weeks 6 days to check for physical abnormalities in their unborn baby

Information to help them decide if they want screening or not

Downs syndrome screening

Who – all mothers

When – between 10 and 20 weeks

Why – to offer definitive testing and option for termination if desired

What……

A detection rate for Down's syndrome of greater than

75% of affected pregnancies with a screen positive rate of less than 3%.

What…..

According to NICE appropriate tests include:

 from 11 to 13 weeks 6 days the combined test

(NT, hCG and PAPP-A)

Preferred method as gives early diagnosis and only needs one visit.

Includes NT scan (done with dating scan) and bloods.

 from 11 to 13 weeks 6 days and 15 to 20 weeks the integrated test

(NT, PAPP-A + hCG, AFP, uE3, inhibin A)

Need to attend twice for NT scan before 13 weeks and then for bloods after 15 weeks.

What…..

 from 11 to 13 weeks 6 days and 15 to 20 weeks the serum integrated test

(PAPP-A + hCG, AFP, uE3, inhibin A)

Need to attend twice for bloods but does not include NT scan (used if cannot measure NT e.g. due to baby position or patient body habitus)

 from 15 to 20 weeks the quadruple test

(hCG, AFP, uE3, inhibin A)

Only option for late bookers

Some special cases e.g. NT only for multiple pregnancies

Then…

Calculate risk depending on woman’s age and screening results (need to know gestation to interpret)

Woman's age (years) Risk as a ratio

Below 20 1:1600

20 1:1500

30

35

40

45 and over

1:800

1:270

1:100

1.50 and greater

% Risk

0.067

0.066

0.125

0.37

1.0

2.0

Categorise as high or low risk and offer invasive diagnostic testing to high risk. Cut offs:

1st trimester combined – 1:150

2 nd trimester - 1:200

NT alone - 1:250

Discussion point – communicating risk

Quantifying risk:

“There is a 5% chance that your baby will have Downs syndrome”

“Your baby is at high risk of having Downs syndrome”

“The risk of your baby having Downs syndrome is 0.05”

“Out of 20 babies, 1 would have Downs syndrome”

“There is a 95% chance that your baby won’t have Downs syndrome”

Relative v absolute risk:

“Taking the COCP doubles your risk of having a blood clot” v

“Taking the COCP increases your risk of having a blood clot from 1 in 14000 to 2 in 14000”

“This drug will result in a 34% reduction in the risk of a heart attack” (88% took drug) v “This drug will result in 1.4% fewer people having heart attacks” (42% took drug)

Any questions at this point?

Discussion point to finish – community orientation

How do GP, midwife and consultant work together? What are their responsibilities?

What supporting services are available?

Summary

Screening

NICE guidelines

Offering information and communicating risk

Thank you for listening

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