Learn about trisomy 13, a genetic disorder that threatens the life of a baby
In 2017, a baby, Adam Fabumi, was born with Trisomi 13, a genetic disease that has occurred since the baby is in the womb. Adam's parents struggled to make their children's health go viral on social media. Unfortunately, seven months later, this beautiful baby returned to the Almighty.
Maybe before the Adam Fabumi case appeared, you almost never heard about trisomy 13. What is Trisomy 13 or Patau syndrome? And why is this disease so dangerous?
Maybe before the Adam Fabumi case appeared, you almost never heard about trisomy 13. What is Trisomy 13 or Patau syndrome? And why is this disease so dangerous?
Is this trisomy 13 or Patau's syndrome?
Patau's syndrome or trisomy 13 is a genetic disorder caused by an abnormality of chromosome 13. In this condition, the baby has 3 copies of chromosome 13 in each cell of his body. While normally there are only 2 copies of chromosomes from both parents.
Most of the 13 cases of trisomy were not hereditary. This is a mutation of random genetic disorders during the formation of oocytes and spermatozoa in the elderly. In addition, cell division errors can also produce an abnormal number of chromosomes.
Trisomy 13 is a rare condition that only occurs in one in 16,000 newborns. This condition can cause various health problems in babies, including heart and brain problems.
Many babies with trisomy 13 die in the first days or weeks of life due to various life-threatening medical conditions. In fact, only about 5 to 10% of babies with trisomy 13 survive until the first year of life.
Patau's syndrome or trisomy 13 is a genetic disorder caused by an abnormality of chromosome 13. In this condition, the baby has 3 copies of chromosome 13 in each cell of his body. While normally there are only 2 copies of chromosomes from both parents.
Most of the 13 cases of trisomy were not hereditary. This is a mutation of random genetic disorders during the formation of oocytes and spermatozoa in the elderly. In addition, cell division errors can also produce an abnormal number of chromosomes.
Trisomy 13 is a rare condition that only occurs in one in 16,000 newborns. This condition can cause various health problems in babies, including heart and brain problems.
Many babies with trisomy 13 die in the first days or weeks of life due to various life-threatening medical conditions. In fact, only about 5 to 10% of babies with trisomy 13 survive until the first year of life.
Signs and symptoms of trisomy 13
Babies with trisomy 13 usually have severe intellectual disabilities and physical problems in various parts of the body. Symptoms that appear usually depend on the number of cells in the body that contain 13 additional chromosomes.
Symptoms that can occur in infants with trisomy 13, namely:
Babies with trisomy 13 usually have severe intellectual disabilities and physical problems in various parts of the body. Symptoms that appear usually depend on the number of cells in the body that contain 13 additional chromosomes.
Symptoms that can occur in infants with trisomy 13, namely:
- Low birth weight, but can be normal
- Brain structure problems that can affect facial development
- Nostrils develop poorly
- Difficulty breathing
- Hearing disorders
- Hypertension
- pneumonia
- Neurological disorders
- convulsions
- Slow growth
- Difficult to digest.
- Congenital heart malformations
- Abnormalities of the brain or spinal cord
- The size of the eyes is very small and close together
- Big fingers or toes
- Boxing closed
- hernia
- Harelip
- Cleft palate
- Low muscular tone
Neurological abnormalities and serious heart disease in babies with trisomy 13 make their survival difficult. Even 95% of babies with trisomy 13 die before birth.
However, there are also babies that can survive for years because additional chromosomes 13 are not found in all cells of the body and only in certain cells.
Even though trisomy 13 or Patau's syndrome is a random genetic disorder, if you are over 35, you must be vigilant. Because, women have a higher risk of having a baby with trisomy 13 if they are more than 35 years pregnant.
What is the diagnosis and treatment of Trisomy 13?
You might feel worried and scared if your baby in the womb has trisomy 13, and it was not known before birth in the world. However, you should know that Trisomy 13 can be detected since pregnancy.
Your doctor can detect physical signs of trisomy 13 in your baby after a routine pregnancy examination with ultrasound or a pregnancy test such as cellular DNA screening (NIPT). In addition, to ensure the baby has trisomy 13, the doctor will also recommend you to do other tests with amniocentesis (amniotic fluid test) or chorionic villus sampling (CVS).
If your baby is diagnosed with trisomy 13, your doctor will definitely suggest intensive care options. This is done as an effort to extend the baby's age.
Indeed, there is no cure for trisomy 13, but this treatment is focused on various health problems that make your baby difficult with trisomy 13.
Surgery may be needed to correct abnormalities of the heart, cleft lip or palate. Physiotherapy or speech therapy may also be needed to encourage the development of the baby with trisomy 13. When taking care, the doctor will consider any action based on the baby's survival chances.
Until now, there was no effective way to prevent babies from having trisomy 13. However, pregnancy to less than 35 years can reduce the risk. In addition, routine pregnancy checks are also very necessary to detect this problem as soon as possible.
You might feel worried and scared if your baby in the womb has trisomy 13, and it was not known before birth in the world. However, you should know that Trisomy 13 can be detected since pregnancy.
Your doctor can detect physical signs of trisomy 13 in your baby after a routine pregnancy examination with ultrasound or a pregnancy test such as cellular DNA screening (NIPT). In addition, to ensure the baby has trisomy 13, the doctor will also recommend you to do other tests with amniocentesis (amniotic fluid test) or chorionic villus sampling (CVS).
If your baby is diagnosed with trisomy 13, your doctor will definitely suggest intensive care options. This is done as an effort to extend the baby's age.
Indeed, there is no cure for trisomy 13, but this treatment is focused on various health problems that make your baby difficult with trisomy 13.
Surgery may be needed to correct abnormalities of the heart, cleft lip or palate. Physiotherapy or speech therapy may also be needed to encourage the development of the baby with trisomy 13. When taking care, the doctor will consider any action based on the baby's survival chances.
Until now, there was no effective way to prevent babies from having trisomy 13. However, pregnancy to less than 35 years can reduce the risk. In addition, routine pregnancy checks are also very necessary to detect this problem as soon as possible.
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