Patau Syndrome: Fat and Symptoms

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Patau syndrome is a rare, chromosomal disorder with life-threatening mental retardation and cumulative developmental abnormalities.

Patau Syndrome: Fat and Symptoms

The Patau syndrome was first observed in 1657 Thomas Bartholin, but the disease is chromosomal in nature dr. Klaus Patau It was found in 1960. In the case of the abnormality called Tris 13, some pieces of chromosome 13, or the whole chromosome itself, are present in one or more cases in the fetal cells. It is also possible that the excess chromosome or chromosome fragment is linked to another chromosome. In rare cases, Tris 13 is not found in all bodily cells but only in a subset of cells. In this case, you have mosaic-like disease. Patau syndrome is, in most cases, a non-communicable disease: the result of an abnormal cell division in an egg or a hormone. However, as the mother ages, the risk of the fetus being born with this disorder increases. The Patau syndrome lack of screening tests occurs every thousandth of a pregnancy.For only 1% of affected fetuses, about 50% will be born within one month and nearly 100% will die within one year.

Tьnetek

Infants with Patau's often do not grow properly in the womb, so they have a low birth weight. In fetal life, the brain, the spinal cord, the kidneys and the heart can be severely affected. 80% of babies come to the world with some form of cardiovascular disorder. Blood, deafness, epilepsy and mental retardation can be a serious manifestation of the disease. Common disorders of the genitals and the urinary system are also common. fьlek. The scalp may be missing on the head. A typical symptom is the extra fingers on the hands and toes, and the second and third toes. Children with Patau syndrome typically have a loose muscle tone.

Diagnosis, treatment

Whenever the Patau Cure arises, the Newborn's heart should be examined for possible cardiac abnormalities. Internal organs can be abnormally screened by X-rays or ultrasound. Because Patau syndrome is characterized by the fact that the brains do not develop properly, you may also need a CT or MRI scan. Patau syndrome incurable disorder, the treatment of the child is always determined by the individual condition of the child. Following childbirth, surgical intervention may be required due to heart failure, lip fractures and warts.

Szыrйs

In the prevention of Patau syndrome, only the genetic screening tests can be a focal point for parents.A combined test a pregnancy 11-14. week. During the first genetic ultrasound, the thickness of the lumbar spine is also measured and the presence of the nasal bone is examined. It also measures two hormone concentrations (free β-hCG, PAPP-A) in maternal serum. Risk assessment for combination of ultrasound and blood test.Filtering efficiency of combined test: 85-93% If there is a suspicion of disease, it is due to the presence of urine / fetal acid. The purpose of the sampling is to obtain fetal cells for chromosomal examination. This test, which takes samples from the abdomen or amniotic fluid across the abdominal wall, is shown in Figures 12-20. Unlike traditional combined tests, fetal DNA testing (NIPT non-invasive) may be performed on the maternal serum before the ninth week of pregnancy. These state-of-the-art screening tests can detect fetal chromosome aberrations, including Patau syndrome, in a single maternal blood test, and can be up to 99% sensitive.You know!If a couple have had a child or fetus with Patau syndrome and want a new baby, then genetic counseling is worthwhile. Patu's is usually not hereditary, but in some cases it can happen. In these cases, chromosome translocation may also be detected in the affected child or fetus. In these cases, the parents' genetic test was also recommended to clarify the likelihood of the next pregnancy occurring in the next pregnancy. Edited by Anna Kékesi Genetic Biologist.

What is a combined test?

Chromosome aberrations: filter, filter, filter

Fetal abnormality screening: to expect the baby