Patau syndrome: information for parents


Public Health England (EPS) created this information on behalf of the NHS. In this document, the word “we” refers to the NHS service that provides testing.


You are reading this information because your baby is suspected of having Patau syndrome (also known as trisomy 13 or T13) as a result of your 20 week ultrasound.

This information should help you and your healthcare professionals discuss the next steps in your care and that of your baby. It should support, but not replace, the discussions you have with healthcare professionals.

Finding out that there may be a problem with your baby’s development can be worrying. It is important to remember that you are not alone.

We will direct you to a specialized team who:

  • provide more accurate information about your baby’s condition
  • answer your questions
  • help you plan the next steps

About Patau syndrome

Inside the cells of our body are tiny structures called chromosomes. These chromosomes carry the genes that determine our development. The cells of the human body contain 46 chromosomes. Changes that occur in the sperm or egg cells can cause a baby to have an extra chromosome.

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

There are 3 types of Patau syndrome called full, mosaic, and partial Patau syndrome. The severity of the disease usually depends on the type of Patau syndrome your baby has. The 20 week CT scan cannot tell you what type of Patau syndrome your baby may have.

In many cases, Patau syndrome is a fatal disease and survival rates are low. There is no way to cure this condition.

All babies born with Patau syndrome will have learning disabilities and a wide range of health problems, some of which can be extremely serious. They may have issues with their:

  • heart
  • respiratory system
  • kidneys
  • digestive system

Babies born with complete Patau syndrome may progress slowly in their development, despite their complex needs.

Babies born with mosaic or partial Patau syndrome may have less serious health problems, but it is not possible to know this until the baby is born.

Causes

We don’t know exactly what causes Patau syndrome. It’s not caused by something you did or didn’t do. Babies with Patau syndrome are born to mothers of all ages, but the chances of having a baby with Patau increase with the mother’s age.

You will be able to discuss your personal situation with a team of specialists.

Patau syndrome occurs in about one in 4000 babies (0.03%).

How we find Patau syndrome

We screen for Patau syndrome during the “20 week scan” (between 18+0 and 20 +6 weeks of pregnancy). Screening for Patau syndrome is also part of the combined test offered earlier in pregnancy between 10 and 14 weeks.

Follow-up tests and appointments

Because the result of the analysis suggests that your baby may have a disease such as Patau’s syndrome, we refer you to a team of specialists who take care of pregnant women and their babies before they are born. They may be based at the hospital where you are currently receiving antenatal care or at another hospital. The specialist team can offer you additional tests, such as chorionic villus sampling (CVS) or an amniocentesis, which can confirm if your baby has Patau syndrome and what it could mean.

It may be helpful to write down any questions you want to ask before seeing the team of specialists.

Results

There is no cure for Patau syndrome. Unfortunately, many babies with Patau syndrome miscarry during pregnancy. Of those babies born alive, about 11% live after their first birthday. Some babies can survive to adulthood, but this is rare.

The life expectancy of babies born with mosaic or partial types of Patau syndrome can be much more variable.

Babies with Patau syndrome are likely to need specialized care and treatment after birth. This will focus on the symptoms of the disease they have.

About half of babies with Patau syndrome will have a cleft lip and palate. Babies with Patau syndrome can also have low birth weight.

Next steps and choices

If your baby is confirmed to have Patau syndrome, you can talk to the team caring for you during your pregnancy about your baby’s condition and your options. This will include continuing your pregnancy or terminating your pregnancy. You may want to know more about Patau syndrome. It may be helpful to speak to a support organization with experience of helping parents in this situation.

If you decide to continue your pregnancy, the team of specialists will help you plan your care. The team will discuss with you how you want your baby to be cared for after birth. Depending on your baby’s specific symptoms, palliative care may be offered. Palliative care for children aims to promote the best quality of life and the best possible care for every child with a life-limiting illness and their family.

If you decide to terminate your pregnancy, you will receive information about what it means and how you will be taken care of. You should have a choice of where and how to terminate your pregnancy and receive personalized support for you and your family.

Only you know what is the best decision for you and your family.

Whatever decision you make, your healthcare professionals will support you.

Future pregnancies

If you choose to have another baby, they are unlikely to have Patau syndrome.

Babies with Patau syndrome are born to mothers of all ages, but the risk increases as the mother ages.

You may be referred to a genetic counselor to discuss future pregnancies.

More information and assistance

Prenatal outcomes and choices (BOW) is a national charity that helps people make decisions about screening and diagnosis and whether or not to continue a pregnancy.

Support organization for trisomy 13/18 (SWEET United Kingdom) is a national charity that supports families affected by Patau syndrome, Edward syndrome and related conditions.

You can find more information about Patau’s syndrome on the NHS website.


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