Learn about Pataus syndrome in babies

Like Edward and Down, Patau syndrome is a common genetic syndrome in babies and has a serious impact on the health of the baby while still in the womb.

Chromosomal abnormalities are the leading cause of miscarriage (miscarriage) and stillbirth. This condition can lead to dangerous syndromes such as Down syndrome (trisomy 21), Edward syndrome (trisomy 18) and especially Patau's syndrome. You have heard of Patau syndrome but do not fully understand it. So follow the following information of aFamilyToday Health to better understand this genetic syndrome.

What is Patau Syndrome?

Patau syndrome is another term for a baby with a chromosomal abnormality. Normally, babies are born with 46 chromosomes, arranged in 23 pairs, but if they have Patau's syndrome, they will have an extra copy of the 13th chromosome (trisomy 13) in each cell of the body. This copy can cause serious neurological and heart defects that make it less likely for an infant to survive after birth.

Causes of Patau's syndrome

The exact cause of this syndrome is currently unknown. In general, this syndrome affects girls more than boys. Like Down syndrome, many researchers also think that this syndrome is related to the age of the mother during pregnancy.

Symptoms of Patau's syndrome

Babies with Patau's syndrome often have physical or intellectual health problems. Babies of normal weight, small heads and slanted, distorted forehead. Large nose, low set ears, abnormally shaped and prone to eye defects, cleft palate and cleft palate . Some babies are born with a patch of scalp that looks like sores. In addition, babies with Patau's syndrome also have symptoms such as:

Have extra fingers or toes (finger redundancy defects)

Deformed foot

With brain structural problems, the brain does not divide into two hemispheres, resulting in a disease known as the single ventricle.

In girls, the uterus may have an abnormally shaped uterus, called a bipedal uterus. In boys, the testicles sometimes fail to enter the scrotum ( hidden testicles ).

Heart defects (80%)

Kidney defects ...

Survival rate

Patau syndrome is quite rare, the rate is 1 / 16,000 fetuses and infants with it. According to statistics, up to 95% of babies with Patau syndrome die before birth and only about 5-10% live through the first year.

However, it is difficult to predict the exact life expectancy of a baby with trisomy 13. There are a few cases where babies can live to adolescence but this is very rare.

Diagnosis of Patau's syndrome

Babies with Patau's syndrome have their own characteristics and can be diagnosed with a physical exam. However, it can sometimes be mistaken for Edwards syndrome, so genetic testing is required to confirm the diagnosis.

In addition, doctors will also recommend imaging tests such as computed tomography (CT) or magnetic resonance imaging (MRI) to look for brain, heart, and kidney defects.

Methods of detecting Patau's syndrome right from when the baby was still in the womb

Biochemical test Double test, Triple test

The double test is done at 10-13 weeks of pregnancy, while the triple test is usually done around 14-18 weeks. These tests help determine the risk of the fetus having Patau's syndrome. If both methods conclude that your baby is at high risk of birth defects , your doctor will advise you to have amniocentesis for a more accurate check.

Supersonic

This test helps to increase the accuracy rate for screening results. Ultrasound helps to determine the gestational age, the basic indicators of the fetus, the head - buttocks length, measure the nape of the nape of the neck ... This is the basis for doctors to make accurate conclusions about the health status of the fetus. children. 

Test NIPT - illumina

This is a method of analyzing the free DNA of the fetus in the mother's blood to screen for genetic disorders that the fetus may have. This method is up to 99.9% accurate and based on this result, the doctor can conclude whether the fetus has genetic syndromes or not. Once the test results are available, you don't need to go through more than one test or go through with other screening methods.

What to do when your baby has Patau's syndrome?

If your baby is diagnosed with Patau's syndrome before birth, your doctor will give you some advice. Some parents choose to intervene, while others choose to end the pregnancy. There are also some parents who want to continue the pregnancy until the baby is born even though the chances of their baby's survival are low, some of them decide to try special care to prolong the life of the baby. .

If you choose to take care of pregnancy and give birth, your baby's postpartum treatment will focus on the specific physical problems your baby has. The doctor may have surgery to treat heart defects or other defects like cleft palate and cleft palate. In addition, there are other methods such as physical therapy and speech therapy to help children with Patau's syndrome develop normally.

Genetic counseling is recommended

Parents of children with Patau's syndrome are encouraged to seek genetic counseling to:

Understand the results of chromosomal tests in detail

Understand that having another baby is also at risk for the effects of the disease

Understand diagnostic options for other pregnancies. 

Through the above sharing, hopefully you have had some more useful information about Patau syndrome in newborn babies. Because this syndrome is unpredictable and untreated, during pregnancy, you should carry out a full examination to promptly detect and partially limit bad situations that may occur.