You have received this leaflet because you have a suspected or confirmed diagnosis of Patau’s Syndrome (also known as Trisomy 13).
What is Patau’s Syndrome?
Patau’s Syndrome is also referred to as Trisomy 13. This means there is an extra (3rd) copy of Chromosome 13 in the cells of your baby.
Unfortunately, babies with Patau’s Syndrome experience a wide range of serious difficulties. The most common encountered affect the baby’s brain, heart, face and urinary tract.
What are chromosomes?
The human body is constructed of millions of cells. Different types of cells form different structures in our bodies e.g., skin cells, muscle cells etc.
In the centre of most of these cells is an area called a nucleus that contains thread like structures called Chromosomes. These contain genetic information, inherited from our parents, that instruct how our bodies are made and function.
Most of us have 46 Chromosomes in our cells which are arranged in pairs. One Chromosome from each pair is inherited from our mother and the other from our father.
Our Chromosomes contain approximately 20,000 genes that provide instructions for the creation and maintenance of our bodies.
How is it diagnosed?
Patau’s Syndrome can be suspected because of the baby’s appearance on an ultrasound scan or the result of a Screening Test offered to you to screen for chromosomal issues at the point of your dating scan (11-14 weeks).
A common feature on an ultrasound scan that might be a sign of Patau’s Syndrome is a thickened area at the back of the baby’s neck, referred to as the nuchal translucency. Other common features on a scan include problems with the appearance of the baby’s brain, face, heart and urinary tract. These features may be seen at the point of your dating scan, or may not be visible until later in your pregnancy.
You may pay to have a (private) blood test called Non Invasive Prenatal Testing (NIPT) to check for the risk of Patau’s Syndrome.
The only way to confirm the diagnosis of Patau’s Syndrome is to have a test called a CVS (Chorionic Villous Sample) or amniocentesis. This test involves inserting a fine needle into the baby’s placenta or amniotic sac to retrieve a small amount of tissue or amniotic fluid. This sample is sent to our genetics laboratory and results are usually available within 1-2 working days.
Why has this happened?
There is nothing that could have been done to prevent this. When our bodies create a sperm or egg, our pairs of Chromosomes divide and are rearranged. The most common reason that Patau’s Syndrome occurs is because these Chromosomes have not divided correctly and an extra copy of Chromosome 13 is inherited by chance.
In much rarer situations, Patau’s Syndrome may have happened for a different reason. Sometimes the Chromosomal issue may have occurred because one of the baby’s parents has an unusual rearrangement of their own Chromosomes. This is unlikely to affect that person but as their Chromosomes divide to make sperm or egg cells, they are more likely to pass on an incorrect number of Chromosomes. This is referred to as an unbalanced translocation.
Your doctor can do some additional tests to clarify the reason your baby has Patau’s Syndrome.
What does it mean for my baby?
Unfortunately, this is an extremely serious condition with no known cure. Babies with this diagnosis often die in the womb or soon after birth. A small number will survive until later in childhood, but with the need for extensive medical care and frequent admissions to hospital.
Is it likely to happen again?
You will be offered an appointment with your specialist midwife or doctor to discuss pregnancy following your delivery.
In most situations, we can be confident that the chance of this happening again is low. Perhaps in the region of 1%.
What do I do now?
Because of the serious nature of this diagnosis, you may opt not to continue with your pregnancy. If you wished, we would be able to support you with a termination of pregnancy. If you choose to continue with your pregnancy, we would continue to offer you specialist support and scans throughout the remainder of your pregnancy.
Informed consent
This leaflet is provided to supplement verbal information that will be given to you by your healthcare provider (Doctor/ Surgeon/Nurse) as part of the consent process prior to your procedure. Information sharing between you and the clinician is essential to ensure that your decision to consent is fully informed. Please ask questions if you don’t fully understand or have any concerns about what is proposed. You have a right to be involved in these decisions and should feel supported to do so. Please take the time to consider what is important to you to ensure the information you receive is specific and individualised.
Where can I get more information and support?
Be sure to ask questions to the doctor supplying you with this leaflet and make a note of any questions you would like to ask at your Fetal Medicine Unit appointment.
Your local hospital will also have a specialist midwife who you will be able to contact for further discussion.
We know that this diagnosis is upsetting and may cause anxiety. Our staff are here to support you throughout this process, with understanding all of your options, and deciding on the right one for you. Please don’t hesitate to ask us any questions or raise any concerns with us.
A helpful charitable resource is Antenatal Results and Choices.