Patau Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Patau syndrome is a type of genetic disorder caused by an extra chromosome number 13. This disease causes severe disability. Some of them are mental retardation, disorders of the shape of the hands and feet, clefts, congenital heart disease, and many more.
People with Patau syndrome generally cannot survive in the long term. About 50 percent of people with Patau Syndrome die in less than three days after birth.
Patau Syndrome Symptom
Babies born with Patau Syndrome will have defects in various organs. Usually, babies are born in unfit conditions, for example not crying, shortness of breath, or weak muscles.
In addition to these conditions, various defects can also be found, such as:
- Head size is smaller than it should be (microcephaly)
- Cleft lip and palate
- Having extra fingers (polydactyly)
- Deformity of the feet
- hernia
- The spine doesn’t close completely (spina bifida)
- Congenital heart disease
Because of this multiple disability, generally babies with Patau’s Syndrome can only survive for a few days to a few months. In fact, not infrequently, in some cases, the baby dies while still in the womb.
Patau Syndrome Reason
Under normal circumstances, each chromosome in the human body consists of two copies. What happens in Patau syndrome is that there is an extra copy of chromosome 13, so that the chromosome has three copies (trisomy 13). Disorders of chromosome 13 cause disturbances in the formation of fetal organs while still in the womb, leading to severe disabilities.
Until now, it is not known what causes the excess copy of chromosome 13. However, cases of Patau syndrome are more common in pregnant women over the age of 35 years.
Diagnosis
Suspicion of Patau’s Syndrome can be known since the baby is still in the womb, and can also be when the baby has just been born. To confirm the presence of Patau’s syndrome, a cytogenetic examination is necessary.
This examination is carried out by taking a sample of the baby’s blood, or if it is still in the womb, the examination is carried out by taking amniotic fluid. Patau syndrome can be confirmed if an excess copy of chromosome 13 is indeed found from the cytogenetic examination.
If indeed the baby is proven to have Patau’s Syndrome, sometimes it is necessary to do a CT scan to find out if there are abnormalities or defects in the internal organs.
Patau Syndrome Treatment
If Patau’s syndrome has been known since the time of pregnancy, pregnant women should immediately discuss it with the obstetrician who handles the method and the right time of delivery. Pregnant women must also prepare themselves to give birth in a hospital with very complete newborn care facilities.
After birth, babies with Patau’s syndrome must be treated intensively by a pediatric perinatologist. Most of the defects that occur must be treated through surgery, for example if there is a cleft lip, congenital heart disease, polydactyly, and so on. However, these operations can only be performed if the baby is healthy and fit. If the baby looks weak or tight, then the main focus of treatment is to improve his general physical condition before undergoing surgery.
Prevention
There are no actions or things that can be done to prevent Patau’s Syndrome.
However, if a mother has given birth to a baby with Patau syndrome, it is best if both of the baby’s parents consult a geneticist before planning another pregnancy. It is important to know and discuss how likely it is that the next child will also have Patau’s syndrome.