Mental syndrome, life-threatening chromosome abnormalities
Por syndrome makes babies unable to survive more than his first year. Let's take a closer look at this rare chromosomal disorder.
Each parent certainly wants children to be born in a healthy state and to undergo optimal growth. However, some conditions make it feel just a dream. Babies may be born with chromosomal abnormalities that make it different from other babies, even threatening their life. One of the abnormalities that can occur is the syndrome.
Por syndrome is one of the chromosome abnormalities where the sufferer has an excess of chromosome 13. Therefore, this syndrome is often referred to as Trisomy 13.
Poor syndrome, what is it?
Under normal conditions, there are two copies for each chromosome in the human body. In the syndrome of poor, there is an extra copy on chromosome 13, making the chromosome have three copies.
It may seem small, but its impact is enormous for the formation of fetal organs. This serious genetic disorder causes severe abnormalities, such as congenital heart disease, brain and nervous system disorders, and many other organ disorders.
Until now, it is not known exactly what caused the abnormalities of the number of chromosomes. In most cases, this occurs due to random errors when the formation of sperm or ovum of the father and mother.
Various conditions that can be caused by the poor syndrome
Por syndrome is characterized by many severe organ abnormalities. The classic symptom of this disorder is the size of the small eye (micro or anophthalmia), cleft lip and cleft in the palate, and the number of excess fingers (Polydaktili).
Also, other abnormalities that can also occur in the syndrome of POR are:
- Congenital heart disease
- Head size smaller than normal (Microsefali)
- Spinal disorders
- Hearing Loss
- Leg abnormalities
At birth, generally, infants with Por syndrome will appear weak, do not cry, just moaning, shortness of breath, until it appears to be a bully. These organ disorders make babies with rare illnesses rarely survive long periods.
The average baby's syndrome Por is only able to endure less than a week. More than 90 percent died in his first year.
Breathing disorders to stop breathing and seizures are two of the few complications that cause death in the Por syndrome sufferer. Only 5-10 percent can live for more than a year, that's with the intensive care of medical equipment.
If Por syndrome has been known since pregnancy through ultrasound examination and amniocentesis, pregnant women should consult with an obstetrician and the most appropriate method of childbirth.
Also, the health facilities of the maternity place must be confirmed to have the optimal perinatology (newborn) service. The reason for the treatment of infants with Por syndrome should be done by a perinatologist and pediatric surgeon.
Treatment of Por syndrome depends on the symptoms and signs experienced by the patient and is generally symptomatic and supportive, such as heart surgery, respiratory surgery, breathing apparatus installation, and so on. The action is not intended to cure the patient, but rather to help the patient to survive.
So far, there have not been any specific things that can be done to prevent or syndrome. If a mother had previously given birth to a child with a poor syndrome, we recommend counseling with a genetics expert before planning your next pregnancy. Also, this step is important to know how much risk these congenital defects can come back to occur.
Regular monitoring during antenatal care is one of the earliest steps to detect as early as possible the presence of chromosome abnormalities in the fetus, including Por syndrome. Thus, the slightest abnormality can be known as quickly as possible.