MRC Centre of Epidemiology for Child Health

Surveillance of congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is an inherited condition that affects the production of cortisol in the adrenal glands. It can cause a life-threatening 'salt-wasting' crisis and is also associated with accelerated growth and overproduction of the hormone, androgen, which can result in girls being incorrectly assigned as boys at birth.

If detected early enough, CAH can be successfully treated to prevent many of these problems. This surveillance study will investigate how many children are diagnosed with CAH each year and how it affects them. This information will contribute to a review of newborn screening policy.

Principal investigator: Rachel Knowles

Team: Juliet Oerton

Congenital cytomegalovirus

A mother who has a new or reactivated cytomegalovirus infection in pregnancy may infect her fetus or newborn child. Although this often causes no problem for the baby, in 10 to 20% of infected children it can result in hearing loss and other long-term disability (for example, cerebral palsy, developmental delay) and may result in severe disease or even neonatal death.

We have investigated such infections in the UK, and are currently combining British and Swedish data to investigate the relationship between asymptomatic congenital cytomegalovirus infection and hearing loss.

Principal investigators: Pat Tookey,  Claire Townsend

UK Collaborative Study of Congenital Heart Defects (UKCSCHD)

For every 1,000 babies born, around 8 will be born with a heart defect. Heart defects cause 3% of all infant deaths. The objective of this study, funded by the British Heart Foundation,  was to explore the childhood outcomes and quality of life of children born with heart defects in the UK.

Paediatric cardiologists from 17 UK centres contributed information through a clinical casenotes review. Children and their families were invited to take part in a postal survey about daily life, health, school and social activities.

Principal investigators: Carol Dezateux, Rachel Knowles

Newborn screening for congenital heart defects

This NHS Health Technology Assessment (HTA) project highlighted that measuring oxygen saturation of the blood could be a simple and cost-effective screening strategy to identify heart defects in newborn babies. The study identified the need for further research and led to the HTA commissioning the PulseOx study to investigate the use of pulse oximetry on maternity wards.

Principal investigators: Carol Dezateux, Rachel Knowles
HTA report: Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis

Surveillance of congenital hypothyroidism (UKCS-CHT)

Around 300 babies are born with congenital hypothyroidism each year. This condition affects the thyroid gland's ability to produce thyroxine, a hormone essential for normal growth and development. Treatment as soon after birth as possible is important in avoiding growth and developmental problems.

This national surveillance study will provide information on how many children in the UK have hypothyroidism, how many of these are diagnosed by newborn screening and if they are getting the appropriate treatment and care.

This study utilises an online questionnaire system to make reporting more efficient and will make use of the data management resources being developed within the centre by the epiLab team.

Principal investigator: Rachel Knowles

Team: Juliet Oerton

HIV

We have an extensive programme of research on HIV in children and pregnant women, and work in close collaboration with a number of HIV research collaborations in Europe.

Dr Pat Tookey co-ordinates the National Study of HIV in Pregnancy and Childhood, which has been collecting data on HIV-positive pregnant women and children since 1986. Dr Claire Thorne leads the European Collaborative Study on HIV-infected pregnant women and their children and a programme of research in Ukraine.

More information: HIV research

MCADD

MCADD (medium chain acyl co-A dehydrogenase deficiency) is an inherited metabolic disorder that can cause severe illness in young babies and even sudden death. It affects an estimated 1 in every 10,000 newborn babies in the UK.

This study was an evaluation of a pilot newborn screening service for MCADD. Commissioned by the Department of Health it informed the introduction of a screening policy for MCADD in England in 2009.

Principal investigator: Carol Dezateux 

Team Member: Juliet Oerton

Rubella

If a woman acquires rubella during early pregnancy she can pass the infection on to her fetus. A baby born with congenital rubella may have many associated problems, including deafness and damage to the eye and heart.  Congenital rubella is now extremely rare in the UK because of a highly effective immunisation programme.

Through the National Congenital Rubella Surveillance Programme we collect information about any new cases of congenital rubella in order to help to monitor the effectiveness of the rubella immunisation programme.

Principal investigator: Pat Tookey

More information: BPSU website

Syphilis

Between 2000 and 2007, there was a six-fold increase in reported cases of infectious syphilis in pregnant women. The aim of the Surveillance of Antenatal Syphilis Screening (SASS) study, funded by the National Screening Committee, is to provide evidence to improve current antenatal screening practice. We are trying to establish what proportion of women identified at antenatal screening need treatment to reduce the risk of transmitting syphilis to their babies, how they are managed, and what happens to their babies.

We are collaborating with the Health Protection Agency and BPSU on a parallel surveillance study of congenital syphilis.

Principal investigator: Pat Tookey, Claire Townsend

Toxoplasmosis

Toxoplasmosis is caused by a parasite. If a woman contracts toxoplasmosis during pregnancy, the infection may be passed to the fetus. Although this may not affect the child, it can sometimes result in deafness, blindness or cerebral palsy. The European Multicentre Study on Congenital Toxoplasmosis (EMSCOT), funded by the European Commission, was a cohort study based on over 1200 toxoplasma-infected pregnant women. The study involved 15 centres in 7 countries, in Europe and Brazil. 

The study addressed questions about the risks of transmission and signs of damage in the child and how these risks are modified by prenatal treatment.

Principal investigator: Ruth Gilbert

More information: EMSCOT website