Patau syndrome is a disease that occurs due to genetic disorders. Patients with Patau syndrome will usually experience physical abnormalities experienced from birth, growth problems, and impaired function of certain body organs.
Patau syndrome is also known as trisomy 13. This condition can occur when there is a disturbance in the formation of genetic components or chromosomal abnormalities of the fetus during the fertilization process.
Patau syndrome is a rare condition, but the death rate from this disease is quite high. Most babies born with Patau syndrome do not survive before they reach 1 year of age.
Causes of Patau Syndrome
The human genetic component consists of 23 pairs of chromosomes. When there is an abnormality in the genetic component, a person can be born with a genetic disorder. One of the genetic disorders that can occur is Patau syndrome.
Patau syndrome occurs when an additional copy of the 13th chromosome is formed in some or all of the body's cells. Therefore, this disease is also known as trisomy 13.
Most cases of Patau Syndrome syndrome occur randomly. That is, its appearance is not related to the disease suffered by the parents and can occur even though there is no history of similar genetic diseases in the family.
To definitively diagnose Patau syndrome, a complete medical examination from a doctor is required. Your doctor may suggest amniocentesis or chorionic villus sampling (CVS) to detect whether there are abnormalities in the fetal DNA as well as pregnancy ultrasound when the mother's gestational age reaches 10-14 weeks.
Symptoms of Patau's Syndrome
Patau syndrome can cause a variety of symptoms, depending on whether the copy of chromosome 13 occurs in only some or all of the body's cells. The following are the symptoms and characteristics of Patau syndrome:
- Facial deformities, such as a small head (microcephaly), small eyes (microphthalmia), one eye or no eye at all (anophthalmia), and nasal deformities.
- Deformities of the lips and mouth, such as a cleft lip.
- Abnormalities in the limbs, such as the number of toes and hands more than five (polydactyly), small nails, and flat feet.
- Disorders of the brain and nervous system, such as a neural tube defect or spina bifida. Abnormalities in the brain can also make growth and development disorders.
- Ear deformities, resulting in hearing loss.
- Disorders of the digestive system.
- Disorders of the urinary system, such as polycystic kidney disease, micropenis, and clitoral hypertrophy.
- Muscle weakness.
Babies born with Patau syndrome will experience various health problems. Of the total number of people with Patau syndrome, it is estimated that only about 10 percent are able to survive for more than a year.
Even if they can survive to more than 1 year of age, babies with Patau syndrome will usually experience complications such as:
- Congenital heart defects.
- Abnormalities in the lungs that can cause shortness of breath or even respiratory failure.
- Hearing loss or deafness.
- Impaired vision or blindness.
- Infections, such as sepsis and pneumonia.
- Convulsions.
- Developmental disorders.
- Malnutrition due to difficulty swallowing and digesting food.
Patau Syndrome Treatment
To date, no treatment has been found for Patau syndrome. However, treatment can still be done to overcome the symptoms experienced by the baby. Some of these handling steps are:
Administering oxygen via a breathing apparatus
At birth, babies who have been diagnosed with Patau syndrome may need breathing assistance to provide oxygen. If they are unable to breathe spontaneously, a baby with Patau syndrome will need assisted breathing through a ventilator machine.
Infusion
If unable to breastfeed, a baby with Patau syndrome may be given an IV as a method of fluid administration. If the digestive tract is still functioning, babies with Patau syndrome can be fed breast milk or formula through a special feeding tube (OGT).
Operation
Surgery is performed to repair the problem part of the body. For example, if there is a congenital heart defect, the doctor may suggest heart surgery in a baby with Patau syndrome. Surgery may also be needed if people with Patau syndrome have a cleft lip.
In addition to the steps above, doctors can also treat Patau syndrome with drugs. The administration of drugs will be adjusted to the patient's health problems.
For example, if you have frequent seizures, the patient may be given anti-seizure drugs. To treat a bacterial infection, your doctor may give you antibiotics.
Until now, the chance of cure for Patau syndrome is very low. After birth, the condition of the baby with Patau syndrome will be closely monitored by doctors and nurses.
To detect Patau syndrome early, you can undergo genetic testing on the fetus. However, first consult with your obstetrician about the benefits and risks.