Trisomy 13 or Patau syndrome is a genetic disorder in babies with three copies of the hereditary material in the thirteenth chromosome. While healthy babies have two copies of genetic product in the thirteenth chromosome. The problem can affect the development of the baby in many ways. Keep reading to read more about elements that may affect life span in this condition.
Trisomy 13 is a rare chromosome problem that affects around one in every 8,000-12,000 live births. Babies with trisomy 13 have lots of irregularities, including nearly every organ system in the body, in addition to developmental hold-up. Trisomy 13 is likewise called Patau syndrome, after the physician who first explained the disorder.
Trisomy 13 Life Expectancy
While the condition is rather unusual, you can still find babies born with it. The disorder can cause severe psychological and physical abnormalities consisting of heart flaws. Numerous babies with Patau syndrome are stillborn or die within the first couple of days after being born. It is tough to anticipate the life expectancy if the baby does not have any immediate lethal issues.
- About 50% of babies die within the first week of their birth.
- 90% die within a year.
- Only 5-10 % manage to live longer than a year.
Exists Any Treatment for Trisomy 13?
Regrettably, there is no standard treatment offered for babies born with this disorder. It is therefore hard to improve Trisomy 13 life span. Healthcare providers focus their treatment on enhancing symptoms only. Numerous children with this disorder ultimately need surgery in addition to occupational therapy, speech therapy, physical therapy, and other encouraging treatment measures.
Some infants born with incurable abnormality, however some react well to treatment used to fix structural problems. Unique solutions, strategies, and positions are used to deal with feeding issues. The positioning of a gastric tube might help in this regard. Surgery is the only treatment choice to correct structural irregularities such as cleft palate and cleft lip. The combination of hearing aids, unique diets, and vision helps may help handle other symptoms of Patau syndrome.
Causes and Symptoms of Trisomy 13
While Trisomy 13 is a genetic disorder, it does not pass from the parents to the child. It mainly happens due to flaws in the sperm or the egg that forms the fetus. Under typical situations, egg and sperm join and form 23 pairs of chromosomes. In rare cases, egg and sperm form an extra chromosome and the chromosome 13 is launched to the embryo. Both mother’s egg cell and daddy’s sperm cell can consider that additional chromosome to the embryo.
There are 3 types of this condition, and these types likewise have some effect on the general Trisomy 13 life expectancy.
- Complete Trisomy: In this condition, every cell in the body of an afflicted baby has an additional copy of chromosome 13.
- Partial Trisomy: In this condition, patients do not have a complete extra copy of chromosome 13, and only an extra part of the chromosome attached to some other chromosome in the cells.
- Mosaic: Patients with this type of condition have a whole additional copy of chromosome 13, but they are not present in a few of the body’s cells.
The symptoms generally depend upon the seriousness of the condition. In addition, the symptoms may be various when just a few of the cells are affected– it suggests the kind of Trisomy 13 will likewise have an influence on how severe the symptoms are.
The most common symptoms include cleft palate, close-set eyes, cleft lip, clenched hands, additional fingers, impaired muscle tone, low-set ears, hernia, skeletal defects, impaired mental advancement, and seizure. Some patients might likewise have a little lower jaw, little head, and un-descended testicles.
How Is Trisomy 13 Detected?
A physical exam is usually all that is needed to detect Trisomy 13. An afflicted baby will have particular physical qualities and symptoms as discussed already, makings it simple for doctor to diagnose. Still, they might purchase a blood test to analyze the chromosomes to validate the presence of chromosome 13.
It is also possible to examine cells in the amniotic fluid to confirm the presence of chromosomal abnormalities. The fluid is normally gotten from the placenta through chorionic villus sampling (CVS). A comprehensive fetal ultrasound might likewise help make a medical diagnosis, however it is not an extremely trusted way. A chromosome analysis is typically 99.9% precise.
How Often Does Trisomy 13 Occur?
It is rather a rare condition and impacts just 1 in 16,000 babies in the United States. The risk of having a baby with this disorder increases with the age of mother, however a woman can give birth to a baby with Trisomy 13 at any age.