Patau syndrome

Patau syndrome's disease overview

What is

Patau syndrome?

Patau syndrome is a birth defect caused by chromosomes . Normally, each person has 23 pairs of chromosomes in the genetic apparatus. In unfortunate children with Patau syndrome, the 13th pair of chromosomes will have a 3rd chromosome, creating a trio of chromosomes, called Trisomy 13. This is the leading cause of miscarriage and miscarriage and miscarriage The fetus is stored in the uterus. The embryos suffering from this syndrome will grow slowly in the uterus with many other abnormalities. Some fetuses with Patau syndrome can still be born, but with the serious heart and neurological defects that children suffer from making children rarely have the opportunity to survive after birth.

Patau syndrome is quite rare with a ratio of 1/16000 pregnancy, girls are more common than boys. The risk of this syndrome increases in the mother's age. More than 80% of children were born with this syndrome dying in the first year, 95% of children suffered from this syndrome to die as soon as they were in the fetus. However, there are still children who can live to adolescents, though very rare.

Causes of Patau syndrome's disease

Up to the present time, the cause of Patau syndrome has not been known exactly.

In most cases, Patau syndrome occurs randomly during fertilization, when there is abnormalities in the division of cells, leading to false copying genetic information. The third chromosome in the trio of chromosomes is also a copy of the 13th chromosome in the genetic movement.

About 1 of these 10 cases of this birth defect is due to another chromosome moving, paired with the 13th chromosome pair to create a trio of chromosomes.

Symptoms of Patau syndrome's disease

Children with Patau syndrome often have many physical and intellectual health problems. When the fetus is in the uterus, growth is limited, so the weight at birth is often low. More than 80% of cases are born with heavy congenital heart defects. The brain is usually not divided into 2 hemispheres, often called the first -dividing defects.

Some neck abnormalities can be seen:

  • clep, cleft palate
  • Small eyes or only one eye, the distance between the eyes close to each other
  • Small head, tilted forehead, distorted, some children lost scalp array
  • low ears, may be deaf

    • Hematoma

    Patau syndrome can cause other abnormalities such as:

  • Abdominal disability causes navel, intestinal and other organs in the abdomen.
  • Abnormal abnormalities in the kidneys
  • Small penis in boys or hypertrophy in girls.

    • Abnormal hands and feet like excess fingers, feet are deformed.

    Transmission route of Patau syndrome's diseasePatau syndrome

    Because most chromosomes occur randomly during fertilization, it is impossible to clearly conclude about their risk factors.

    Currently, many experts say. The risk of this syndrome increases in the age rate

    Prevention of Patau syndrome's disease

    Prenatal screening is the most effective way to prevent the birth of a baby with Patau syndrome. Detecting a fetus with this syndrome as soon as the mother's womb can be done by many means of support:

    Double test, Triple Test

    are biochemical tests performed at week 10 to 13 and week 14-18 of pregnancy. These tests help identify the risk of children with birth defects, including Patau syndrome. If the child is at high risk, the doctor needs to prescribe other interventions such as amniocentesis for more accurate examination.

    Pregnancy ultrasound

    helps to determine the fetal age, the basic indicators of the fetus, the nuchal translucency measurement and the morphological abnormalities are typical for Patau syndrome.NIPT test

  • NIPT is the latest prenatal diagnostic method, your child's DNA sequence in the mother's blood to screen with chromosomal genetics. NIPT should be done from the 10th week of pregnancy because this time the amount of DNA of the fetus enters the mother's blood enough to conduct analysis.
  • The accuracy of this method is up to 99.9%, allowing the doctor to be diagnosed with birth defects before birth without using other tests. /p>

    • another advantage of this method is that it does not affect the fetus or organizations around the fetus, so it will limit complications such as infection, miscarriage, ... >

    Diagnostic measures for Patau syndrome's disease

    Children with Patau syndrome will have their own characteristics and are diagnosed with physical examination and clinical examination. Indications such as CT scans or magnetic resonance imaging are the purpose of detecting brain, heart and kidney defects.

    However, to determine the exact presence of Patau syndrome, it is necessary to perform genetic tests, making chromosomes.

    Patau syndrome's disease treatments

    If diagnosed with Patau syndrome before birth, the doctor will conduct genetic advice, provide parents with some advice. There are parents choosing to end pregnancy. There are also some parents who want to keep the baby and continue pregnant until the baby is born even though they know the chance of survival after the baby is very low

    If you choose to keep pregnancy and give birth, after birth treatment will focus on the special physical problems that your baby suffers. The doctor may have surgery to repair heart defects or other defects in the head area such as cleft palate and cleft palate. In addition, there are other methods such as physical therapy, language therapy to help children with Patau syndrome can develop normal physical, integrate with everyone.

    Genetic advisory is a service that is aimed at giving advice to parents about the issues:

  • Understand the meaning of the meaning of chromosomal test results

    • Understanding the birth of another child is also at risk of the disease.

    Understand diagnostic options for other pregnancy.

    See also:

  • The effect of Patau syndrome on the fetus
  • Early Patau syndrome is detected by the fetal DNA test in the mother's blood (NIPT)
  • For prenatal screening tests, fetal defects?

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