Overview
Patau's syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body's cells. It's also called trisomy 13.
Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents.
But a baby with Patau's syndrome has 3 copies of chromosome 13, instead of 2.
This severely disrupts normal development and, in many cases, results in miscarriage, stillbirth or the baby dying shortly after birth.
Babies with Patau's syndrome grow slowly in the womb and have a low birth weight, along with a number of other serious medical problems.
Patau's syndrome affects about 1 in every 4,000 births. The risk of having a baby with the syndrome increases with the mother's age.
More than 9 out of 10 children born with Patau's syndrome die during the first year.
Symptoms and features
Babies with Patau's syndrome can have a wide range of health problems.
Their growth in the womb is often restricted, resulting in a low birth weight, and 8 out of 10 will be born with severe heart defects.
The brain often does not divide into 2 halves. This is known as holoprosencephaly.
When this happens, it can affect facial features and cause defects such as:
- cleft lip and palate
- an abnormally small eye or eyes (microphthalmia)
- absence of 1 or both eyes (anophthalmia)
Other abnormalities of the face and head include:
- smaller than normal head size (microcephaly)
- ear malformations and deafness
Patau's syndrome can also cause other problems, such as:
- an abdominal wall defect where the abdomen does not develop fully in the womb, resulting in the intestines being outside the body, covered only by a membrane – this is known as an exomphalos or omphalocoele
- abnormal cysts in the kidneys
There may also be abnormalities of the hands and feet, such as extra fingers or toes (polydactyly) and a rounded bottom to the feet, known as rocker-bottom feet.
Causes of Patau's syndrome
Patau's syndrome happens by chance and is not caused by anything the parents have done.
Most cases of the syndrome do not run in families (they're not inherited). They occur randomly during conception, when the sperm and egg combine and the foetus starts to develop.
An error occurs when the cells divide, resulting in an additional copy, or part of a copy, of chromosome 13, which severely affects the baby's development in the womb.
In many cases, the baby dies before reaching full term (miscarriage) or is dead at birth (stillbirth).
In most cases of Patau's syndrome, a baby has a whole extra copy of chromosome number 13 in their body's cells. This is sometimes known as trisomy 13 or simple trisomy 13.
In some cases of Patau's syndrome, genetic material is rearranged between chromosome 13 and another chromosome. This is called a chromosomal translocation. Patau's syndrome that arises because of this can be inherited.
Sometimes only some cells have the extra copy of chromosome 13. This is known as trisomy 13 mosaicism. Occasionally, only part of 1 chromosome 13 is extra (partial trisomy 13).
The symptoms and features of both mosaicism and partial trisomy tend to be less severe than in simple trisomy 13, resulting in more babies living longer.
Screening for Patau's syndrome
You'll be offered a screening test for Patau's syndrome, as well as Down's syndrome (trisomy 21) and Edwards' syndrome (trisomy 18), from 10 to 14 weeks of pregnancy.
The test assesses your chances of having a baby with these syndromes.
The screening test offered at 10 to 14 weeks of pregnancy is called the combined test because it involves a blood test and an ultrasound scan.
If the screening tests show you have a higher chance of having a baby with Patau's syndrome, you'll be offered a second screening test called non-invasive prenatal testing (NIPT).
This is a blood test that can give you a more accurate screening result and help you to decide whether to have a diagnostic test or not. It's available free on the NHS.
A diagnostic test will check the chromosomes in a sample of cells taken from your baby and helps to find out for certain if they have Patau's syndrome.
Two techniques can be used to obtain the cell sample: amniocentesis or chorionic villus sampling (CVS).
These are invasive tests to remove a sample of tissue or fluid so it can be tested for the presence of the extra copy of chromosome 13.
If you're not able to have the combined screening test, you'll be offered a scan that looks for physical abnormalities, including those found in Patau's syndrome.
This is sometimes called the mid-pregnancy scan and is carried out when you're between 18 and 21 weeks pregnant.
Find out more about screening tests for Down's syndrome, Edwards' syndrome and Patau's syndrome
Treating and managing Patau's syndrome
There's no specific treatment for Patau's syndrome. As a result of the severe health problems a newborn baby with the syndrome will have, doctors usually focus on minimising discomfort and ensuring the baby is able to feed.
For the small number of babies with Patau's syndrome who survive beyond the first few days of life, their care will depend on their specific symptoms and needs.
If your baby is diagnosed with Patau's syndrome, either before birth or shortly afterwards, you'll be offered counselling and support.
Genetic testing for parents
Both parents will need to have their chromosomes analysed if their baby is affected by Patau's syndrome caused by a chromosomal translocation.
Genetic testing is carried out to help parents plan for future pregnancies, rather than as part of the decision making process for the current pregnancy.
The test results will allow a more accurate assessment to be made of the likelihood of the syndrome affecting future pregnancies.
Other family members may also be affected and should be tested.
If your child is found to have Patau's syndrome before or after their birth, their clinical team will pass the information about them on to the Congenital Anomaly Register and Information Service (CARIS) .
This helps scientists look for better ways to treat the symptoms of the condition. You can opt out of the register at any time.
Further information and support
These organisations are useful further sources of information about Patau's syndrome.
They can also provide advice and support: