Patau syndrome (trisomy 13): symptoms, medications, etc. • hello healthy

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Definition

What is Patau's syndrome (trisomy 13)?

Patau's syndrome or trisomy 13 is a genetic disorder that your baby gets characterized by the presence of three copies of chromosome on the 13th chromosome.

In normal, healthy humans, there should only be two copies of each chromosome, but children with this syndrome have three copies. Patau's syndrome is a genetic condition. This means that this disorder can only be obtained from the genetic history of the parents.

It is suspected that the extra chromosomes can come from eggs or sperm, but doctors think that the chances of a woman having a baby with a chromosomal abnormality increase if pregnancy occurs at the age of 35 and over.

How common is this condition?

Patau's syndrome is a rare chromosomal disorder that affects roughly one in 8,000-12,000 live births. This chromosomal abnormality affects almost all organ systems in the body. Not only does it hinder the baby's development process, this disorder is also life threatening.

Many babies born with trisomy 13 die within days or during their first week of life. Only five to 10 percent of children with this condition survive the first year. But there are babies who some can survive for years.

Signs and Symptoms

What are the signs and symptoms of Patau's syndrome (trisomy 13)?

Some of the signs and symptoms that can be seen in babies with Patau's syndrome (trisomy 13) include:

• Small head with a flat forehead.
• The nose is wider and rounder.
• The location of the ear is lower and may not be normal.
• Eye defects can occur
• Structural problems and brain function
• Congenital heart defects
• The sac that attaches to the stomach in the umbilical cord area (omphalocele), which contains several abdominal organs.
• Spina bifida.
• Uterine or testicular abnormalities.

Babies born with Patau syndrome will experience many health problems. They can have serious complications including:

• Difficulty breathing
• Congenital heart defects
• Hearing loss
• High blood pressure (hypertension)
• Intellectual disability (mental retardation)
• Neurological problems
• Pneumonia
• Epilepsy
• Slow growth
• Difficulty feeding or digesting food.

Cause

What causes Patau's syndrome (trisomy 13)?

Although it is a genetic disease, most Patau syndromes are not caused due to genetic disorders that are inherited from parents. Sometimes an error occurs when an egg or sperm is formed and thus has an extra chromosome.

The third copy of the 13th chromosome can come from an egg or a sperm cell. Based on the cause, the types of Patau syndrome consist of:

• Simple trisomy 13. This condition occurs due to the presence of an extra chromosome in the 13th chromosome pair found in all cells.
• Trisomy mosaic 13. This condition occurs due to the presence of extra chromosomes found in some cells.
• Partial trisomy 13.This condition occurs only part of the extra chromosome found in some cells.

The differences in these types will have an impact on the symptoms that occur. Simple trisomy 13 has the most severe symptoms of the other two types, resulting in a baby's age that does not last long.

Risk Factors

What puts a person at risk for Patau syndrome (trisomy 13)?

Pregnant women who are older are more likely to experience chromosomal abnormalities than pregnant women who are young. This is due to the difference in the age of the eggs that older women and younger women have.

These eggs will mature and be released starting at puberty. As you get older, of course the number of eggs will decrease and the age of a woman's eggs follows the age of the mother. If a woman is 25 years old, the egg is also 25 years old. If a woman is 40 years old, her eggs are also 40 years old.

Many experts believe that chromosomal abnormalities can occur due to aging in the egg and possibly because the egg has the wrong number of chromosomes at fertilization.

Eggs that are older are more prone to errors during the division process meiosis or mitosis. Thus, women who are pregnant at old age (more than 35 years) have a greater risk of giving birth to children with chromosomal abnormalities.

If you are pregnant at the age of 35 years or more, you should routinely have your pregnancy checked by a gynecologist. You can also test for chromosomal abnormalities on the baby before birth, such as an amniocentesis test or chorionic villus sampling (CVS).

Treatment

How to treat Patau's syndrome (trisomy 13)?

There has not been found a drug to treat trisomy 13. Generally, doctors will focus on treating the symptoms of this condition, including therapy and surgery.

However, depending on the severity of your baby's condition, some doctors may choose to wait. The doctor will then consider any measures based on your baby's chances of survival.

This condition is not always fatal. However, doctors also cannot predict how long a baby can live if he does not have a life-threatening problem. However, babies born with this condition rarely survive into adolescence.

How to diagnose this condition?

Doctors can diagnose trisomy 13 via routine ultrasound during pregnancy. However, the results of ultrasound screening are not guaranteed to be 100 percent accurate. The reason is, not all Patau syndromes can be detected clearly at ultrasound.

Moreover, the abnormalities caused by trisomy 13 can be mistaken for other disorders or diseases. Apart from ultrasound, chromosomal abnormalities can also be detected before birth using amniocentesis and techniques chorionic villus sampling (CVS).

Genetic testing for parents

To avoid undesirable things, expectant mothers should first undergo genetic testing before planning a pregnancy to detect any potential abnormalities that may occur early.

Reporting from the National Health Service website, the chromosomes of both parents need to be checked if their baby has Patau's syndrome which is caused by chromosome translocation.

The test results will provide a more accurate assessment of the possible conditions that will occur in future pregnancies.

Home Remedies

What are some lifestyle changes or home remedies that can be done to treat Patau's syndrome (trisomy 13)?

If your newborn is diagnosed with Patau's syndrome, it may be difficult. You need to find a source of support where you can learn basic information about this condition and how to care for and look after your little one by:

• Look for a professional expert or person who has the same problem as you. You can share information and solutions for your child.
• Don't despair: some children with this condition can live for a while. Spend as much time with your child as possible. Don't feel hopeless about your child's future.

If there are some things that make you doubt about your child's condition, consult a doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.