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Screening update: key information for community practitioners on developments in antenatal and newborn screening programmes across the UK.

Many changes have taken place in antenatal and newborn screening in recent years, with new national programmes and significant changes made to existing ones. Screening can involve difficult choices, and people who are offered screening need information to decide whether they want screening and what treatment and advice they would like if found to have a condition.

Women and families need information on antenatal and newborn screening tests to make informed choices. Professionals need up-to-date knowledge of conditions screened for and screening pathways to ensure they can facilitate informed choice.

Screening in the UK

Screening aims to identify people at risk of having a particular disease or condition before they show any sign of having it. The screening test divides people into high- and low-risk groups. Those in a high-risk group will be offered further tests to find out whether they have the disease or condition.

The UK National Screening Committee (NSC) is recognised as the source of expert advice on screening, (1) advising ministers and the NHS in all four UK countries. Its advice is based on latest research evidence and informed by multidisciplinary groups including patient representatives.

Six screening programmes are offered to all women and babies in England, but there are some variations across the UK. The effectiveness of some screening tests depends on gestation or age of the baby. It is essential that tests are offered in a timely manner according to national guidelines, and early access to maternity services facilitated, to provide time for women to be fully informed. The UK NSC screening timeline can assist practitioners and women to establish which test needs to be taken when. It is available online, along with other resources for women and professionals. (2)

Sickle cell disease and thalassaemia

Screening for sickle cell disease and thalassaemia can be offered pre-conceptually, so that women can start their pregnancy knowing their haemoglobinopathy status. It should be offered by eight to 10 weeks of pregnancy, so early access to maternity services is important. All women should be offered screening. Observing local policy, screening is based on the Family Origin Questionnaire (FOQ) and blood results. All babies can be screened for sickle cell disease on the newborn bloodspot.

Antenatal screening is offered based on an FOQ and blood results in Wales, and implementation of this is planned in Scotland in 2011. Northern Ireland does not have an antenatal policy, but newborn screening for sickle cell disease will commence in 2010 on the blood spot.

Foetal anomaly screening

Foetal anomaly screening includes screening for Down syndrome and for foetal anomaly via ultrasound. Screening is optional and women should be fully informed of their choices, and aware of the limitations of ultrasound scans.

Timing of the tests is important--dating scans should take place between eight and 14 weeks, and the anomaly scan between 18 to 20 weeks and six days of pregnancy.

All women in England should be offered screening for Down syndrome and foetal anomaly using ultrasound. The 'combined test' for Down syndrome will be offered to most women in England by the end of 2010 and starts from 11 weeks with a nuchal translucency scan, so early access to maternity services is important. A second trimester serum screening test is available for women who have been unable to have the earlier test. In Wales, serum screening is available in the second trimester and all women are offered a dating and anomaly scan. In Scotland, either the 'combined test' or second trimester screening is offered, and all women are offered a dating scan and, in most areas, an anomaly scan (all areas by December 2009). Women are offered an anomaly scan in Northern Ireland.

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Infections

Screening for hepatitis B, HIV, rubella susceptibility and syphilis is recommended and should be offered early in pregnancy across the UK. However, it can also be offered at any point during pregnancy.

Hepatitis B

Screening aims to identify women infected with the hepatitis B virus so that babies at risk of infection can receive vaccination.

A full course of vaccination during the first year of life is effective in preventing infection of the baby. The initial dose should be within 24 hours of birth, the second at one month, third at two months and fourth at 12 months (with a blood test to check immunity). It is very important that the schedule is followed and completed in the community.

HIV

Identification and treatment of pregnant women who have HIV significantly reduces the risk of the virus affecting the baby, and can also benefit the mother's health. Treatment may include combination antiretroviral therapy, mode of delivery and avoidance of breastfeeding.

Rubella susceptibility

If the mother is infected in early pregnancy, rubella can have serious consequences for the baby's health. The measles, mumps and rubella (MMR) vaccination protects against the virus, and screening aims to identify women who are not protected so that they can be offered MMR following birth to protect future pregnancies from the virus. Screening does not detect rubella infection in pregnancy, and any woman presenting with a rash in pregnancy or contact with a known case of rubella needs to be investigated. (3)

Syphilis

Screening aims to identify women with syphilis infection so they can be offered antibiotic treatment in order to treat it and reduce the risk of the baby acquiring congenital syphilis.

Newborn blood spot

The newborn blood spot (also known as 'heel prick') screens for phenylketonuria, congenital hypothyroidism, sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Every newborn baby in the UK and those aged up to one year who move to the UK, should be offered screening. It is recommended to parents, but they may decline one or all of the tests.

The blood spot is taken between days five and eight (birth is counted as day zero). Babies found to be affected are referred for appropriate timely care, which can be very effective in improving health and preventing morbidity and mortality.

Health visitors should ensure that parents receive normal results on all conditions tested by eight weeks of age and that they are recorded in the personal child health record. All cases where no result is available must be followed up. They should work closely with child health records departments in monitoring new births and movement of children in and out of their area to identify those eligible for screening.

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Health visitors should also check for evidence of screening in babies under one year who move into their area. Where no results are available, ensure that parents are offered screening and, if they accept, that their baby is then screened. They may have a role in giving carrier results and in re-screening when screening is incomplete, or be called upon to support parents of babies with newly diagnosed conditions.

MCADD and sickle cell disease are not tested for on the blood spot in Wales and Scotland. In Scotland, they will be integrated into the programme by March 2011.

NIPE

The newborn and infant physical examination (NIPE) programme is recommended to parents, offering a head-to-toe physical examination for their baby to check for problems or abnormalities. It is offered across the UK. The NIPE is carried out within 72 hours of birth and again at six to eight weeks of age, as some conditions can develop later. It includes a full general physical and detailed examination of eyes, heart, hips and testes. NIPEs are performed by a trained and competent healthcare professional. The six- to eight-week check is usually carried out at the local clinic or surgery as part of a wider health examination of both mother and baby. The outcome of the examinations is recorded in the baby's personal child health record.

Newborn hearing

Newborn hearing screening is offered across the UK, and all babies born in England should be offered a hearing screen by five weeks of age. Early identification of hearing loss is known to be important for speech, language and social development. Parents can also receive the information and support they need at an early stage.

The hearing screen is offered either in hospital prior to discharge or in the home at about 10 days of age. Other than hearing loss, possible reasons for not getting clear responses from the screen are background noise, unsettled baby or fluid or temporary blockage in the ear after birth.

Parents will usually be given results at the time of the screen. Parents of babies who show clear responses and do not have risk factors are provided with two checklists and advised to monitor their child's hearing as they grow. Babies referred from the programme should be seen for a full audio-logical assessment within four weeks of screen completion.

Community practitioners play an important role in empowering parents to make an informed choice about the hearing screen, offering guidance and support during the screening process and empowering parents to identify later concerns about their child's hearing.

Further information

For more information and resources, please see: www.screening.nhs.uk/professionals

References

(1) Department of Health. The NHS Constitution for England. London: Department of Health, 2009.

(2) UK National Screening Committee. English antenatal and newborn publications. Available at: www.screening.nhs.uk/annbpublications (accessed 22 September 2009).

(3) Morgan-Capner P, Crowcroft NS; PHLS Joint Working Party of the Advisory Committees of Virology and Vaccines and Immunisation. Guidelines on the management of, and exposure to, rash illness in pregnancy (including consideration of relevant antibody screening programmes in pregnancy). Communicable Disease and Public Health, 2002; 5(1): 59-71.

Jo Harcombe

National education lead, Antenatal and Newborn Programmes, UK National Screening
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Author:Harcombe, Jo
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Geographic Code:4EUUK
Date:Nov 1, 2009
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