What is Trisomy 13?
It is very difficult
to find out that your unborn child has trisomy 13, also known as Patau
syndrome. You probably have a lot of questions about what caused it and if it
can be cured.
But it's best to
learn everything you can about this chromosomal disorder as early as possible
during pregnancy. This way you can discuss all your options with your doctor
and find out what is best for you and your baby.
What is Trisomy 13?
Trisomy 13 is a genetic
disorder that occurs in your child when they have an extra 13th chromosome. In
other words, she has three copies of chromosome 13 when she should only have
two. It occurs when cells divide abnormally during reproduction and create
extra genetic material on chromosome 13.
The extra chromosome
may come from an egg or sperm, but doctors believe that a woman's chances of
having a child with a chromosome abnormality are higher.
The extra 13th
chromosome causes serious mental and physical problems. Unfortunately, most
children born with this disease do not live beyond the first month or year. But
some can live for years.
This is because there
are two different types of trisomy 13. Babies can have three copies of
chromosome number 13 in all of their cells or only in some of them. Symptoms
depend on the number of cells that have an extra chromosome.
How is it diagnosed?
Your doctor may
detect physical signs of trisomy 13 during a routine first trimester fetal
ultrasound. Or it can be detected in tests such as cell-free DNA screening or
PAPP-A.
All of these tests
are screening tests, which means they cannot tell your doctor if your child has
trisomy 13. They only alert your doctor that your child most likely has trisomy
13 and that you need more tests. to confirm it.
Your doctor will
likely recommend a chorionic villus biopsy or amniocentesis to be 100% sure.
Congenital malformations
Babies born with
trisomy 13 often have a low birth weight. They usually have problems with the
structure of the brain, which can also affect the development of their face. A
child with trisomy 13 may have close-set eyes and an underdeveloped nose or
nostrils, as well as a cleft lip or palate.
Other birth defects
of trisomy 13 include:
- Clenched hands
- Cleft lip or palate
- Extra fingers or toes (polydactyly)
- Hernias
- Kidney, wrist, or scalp problems
- Low-set ears
- Small head (microcephaly)
- Undescended testes
Babies born with
trisomy 13 can have many health problems, and more than 80% of them don't live
beyond a few weeks. Those who do this can have serious complications,
including:
- Breathing difficulties
- Congenital heart defects
- Hearing loss
- High blood pressure (hypertension)
- Intellectual disabilities
- Neurological problems
- Pneumonia
- Seizures
- Slow growth
- Trouble feeding or digesting food
What are the treatments?
There is no cure for
trisomy 13, and treatment is directed at your child's symptoms. These may
include surgery and therapy. However, depending on the severity of your child's
problems, some doctors may wait and take action based on your child's chance of
survival.
Trisomy 13 is not always fatal. But doctors can't predict how long a baby might live unless it develops immediate life-threatening problems. However, children born with trisomy 13 rarely survive into adolescence.