Dr Twinkle Kanodia

About these conditions

Summary

Inside the cells of our bodies there are tiny structures called chromosomes. These are made of DNA (genetic material). They carry the genes that determine how we develop. There are 23 pairs of chromosomes in each cell. Changes can occur in the sperm or egg cells, which can lead to a baby having an extra chromosome.

Babies with Down’s syndrome, Edwards’ syndrome or Patau’s syndrome are born to mothers of all ages but the chance of having a baby with one of the conditions increases as the mother gets older. They are all caused by having an extra copy of a chromosome in some or all cells of the body. Having the extra chromosome in just some cells is called the mosaic form and can lead to milder effects for the child. Screening cannot identify which form or what level of disability your baby will have.

Down’s Syndrome (T21)

Down’s syndrome is caused by an extra copy of chromosome 21 in all or some cells of the body. A person with Down’s syndrome will have some level of learning disability. This means they will find it harder than most people to understand and to learn new things. They may have communication challenges and difficulty managing some everyday tasks. People with Down’s syndrome have distinctive facial features but they do not all look the same.

Most children with Down’s syndrome attend mainstream schools but will require additional support. Some health problems are more common in people with Down’s syndrome. These include heart conditions and problems with hearing and vision. Many health problems can be treated but unfortunately around 5% of babies will not live past their first birthday.

For babies without serious health problems survival is similar to that of other children and most people with Down’s syndrome will live into their 60s or longer.

People with Down’s syndrome can have a good quality of life and most say they enjoy their lives. With support, many more people with Down’s syndrome are able to get jobs, have relationships and live semi-independently in adulthood.

Edwards’ syndrome (T18) and Patau’s syndrome (T13)

Babies with Edwards’ syndrome have an extra copy of chromosome 18 in all or some cells. Babies with Patau’s syndrome have an extra copy of chromosome 13 in all or some cells.

Sadly the survival rates are low and of those babies born alive only around 13% with Edwards’ syndrome and 11% with Patau’s syndrome will live past their first birthday. Some babies may survive to adulthood but this is rare.

All babies born with Edwards’ syndrome and Patau’s syndrome will have a learning disability and a wide range of physical challenges, which can be extremely serious. They may have problems with their heart, respiratory system, kidneys and digestive system.

Around half of babies with Patau’s syndrome will also have a cleft lip and palate. Babies with Edwards’ syndrome and Patau’s syndrome will have a low birthweight.

Despite their difficulties, children can slowly make progress in their development. Older children with either condition would need to attend a specialist school.

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