Trisomy 13, also called Patau syndrome, is not usually on your radar or even discussed in most pregnancies. Unfortunately for some, though, it might be detected in prenatal screening.
If you are in the small group of those diagnosed with this genetic condition, it will be vital to have accurate information and lots of support.
Seek out genetic counseling and social workers, if your medical provider hasn’t done this for you already; they will help you understand Patau syndrome and provide the support you need.
What is Patau syndrome?
Patau syndrome, known as Trisomy 13, is a chromosomal disorder associated with physical abnormalities in many parts of the body, and with severe intellectual disability.
Individuals with Trisomy 13 often have congenital heart disease, brain and heart defects or spinal cord abnormalities, very small or poorly developed eyes, extra fingers or toes, an opening in the lip called a cleft lip, or an opening in the roof of the mouth called a cleft palate.
Screening tests and diagnosis for Trisomy 13
Screening for Trisomy 13, usually completed in the first trimester, might include a blood sample or an ultrasound used to detect Trisomy 13 early in the pregnancy.
In the second trimester, you might have a blood test and/or CVS (chorionic villus sampling) and amniocentesis, where a sample of genetic material (amniotic fluid) is taken.
The screens and diagnostic tests can also check for other genetic conditions, such as Edwards syndrome (known as Trisomy 18) and Down syndrome.
Unfortunately, there is no treatment for Patau syndrome and it might be fatal before birth. Babies who are born with Trisomy 13 have a limited life expectancy.
What’s the difference between Trisomy 13 and Trisomy 18?
The word ‘trisomy’ indicates that a person has 3 copies of a particular chromosome rather than 2.
As with Trisomy 18, Trisomy 13 means that the person has 3 copies of a chromosome – in this case, chromosome 13 – instead of 2.
What is mosaic Trisomy 13 syndrome?
The mosaic form of Trisomy 13 or Patau syndrome is a very rare disorder and occurs when there is a mistake with cell division after the sperm has fertilized the egg.
People with this genetic makeup have both normal cells and a few cells with the extra chromosome number 13.
What is partial Trisomy 13 syndrome?
A partial Trisomy 13 is among a group of rare disorders. This happens when either the mother’s or the father’s atypical reproductive cells contribute to the additional chromosomes.
Patau syndrome – signs and symptoms
Trisomy 13 causes severe physical defects and causes severe mental deficiency, interfering with normal development.
Some of the developmental delays might be:
- Low birth weight (growth retardation)
- Birth defects with organs outside of the body
- Congenital heart defects
- Abnormally small head
- Neural tube defects
- Weak muscle tone.
Other physical signs and symptoms might include:
- Cleft lip or palate
- Under foot is convex
- Extra toes or fingers
- Low set ears
What are the risk factors for Trisomy 13 syndrome?
Some risk factors for Trisomy 13 might be having your baby when you’re at an advanced maternal age or inheriting extra genetic material from the family.
Trisomy 13 is not anyone’s fault, and it’s not anything that the parent has done. The above factors put you at an increased risk of Trisomy 13.
You may be interested in reading Over 35 And Having A Baby – What You Should Know.
How was Patau syndrome discovered?
Trisomy 13 was initially noted in 1657 by Thomas Bartholin. The extra chromosome involved was discovered by Dr. Klaus Patau in 1960. The Patau syndrome is named after him.
Can a baby survive Patau syndrome?
Sadly, half of all babies born with Patau syndrome will not live beyond the first few weeks. Even fewer will survive the first 12 months.
It’s difficult to predict how long babies with Trisomy 13 will live, though, and depends on how they cope immediately after birth.
Support networks in Australia can be found at Programs — SOFT Australia.
Is there a way to prevent Patau syndrome?
Unfortunately, there is no way to prevent Trisomy 13. If you have the results of genetic testing information and they are positive for Trisomy 13, you should consult a genetic counselor and be linked with social support networks.
Will Trisomy 13 affect how I birth?
Every baby’s birth is different. Your health care provider will work with you and your family to prepare you for the birth. Together, you can make a plan for after the birth and discuss any medical interventions that might be necessary, depending on the baby’s medical condition