Edwards and Patau syndrome


Edwards and Patau syndrome

Description Edwards syndrome and Patauova

Edwards syndrome and Patau syndrome are brothers more famous Down syndrome from a group called. Trisomických syndromes. They are caused by chromosomal aberrations. Chromosomal aberrations, errors in the distribution of chromosomes in germ cells differentiate numeric (arithmetic) and structural (errors in the construction of chromosomes). Each person has two sets of chromosomes. One receives from the mother and one from the father. Chromosomes are somatic (body) and sex. Together, everyone has 23 pairs of somatic chromosomes and one pair of sex chromosomes. Trisomy is one of numerical aberrations which are in the cell instead of two chromosomes three. The vast majority of trisomies are lethal and such a fetus is in the early stages of pregnancy aborted as so-called. Early pregnancy loss. Most women will not even notice, only to see that they delayed menstruation. Only three trisomies that have a chance of a full-term are just Down syndrome, Edwards and Patau syndrome.

Down syndrome is the most common and best known chromosomal disorder. At the same time the most common genetic cause of mental retardation. It occurs with a frequency of 1 in 800 births.Disability live to adulthood and are able to integrate into society.

Edwards syndrome incidence is about 1 in 7500 births. After the birth of Edwards syndrome has no chance of surviving infancy. On average, babies live for about three months. The 80% are born among girls, which is due to generally higher survival girl fetuses.

Patau syndrome occurs frequency of 1 per 20,000 to 25,000 births. Half the children born diewithin the first month of life.

Risk factors and Edwards syndrome Patauova

For all trinomických syndrome is an important risk factor in high maternal age. In Down syndrome from the thirtieth aged woman steeply increasing risks from the current 1 to 800, thirty-five years, it’s been 1 to 385, forty 1 to 100. Similarly, even with the increase in risk and Patauova Edwards syndrome. In the presence of these syndromes in the family it is also a higher probability of disability of pregnancy. There were no effects of age my father.

Prevention and Edwards syndrome Patauova

As already mentioned, the most important risk factor appears to be the age of the mother. It is therefore not recommended for women to have a child at an older age, ie. after 35 years. For all pregnant women in the second trimester done so. Biochemical screening. It’s a collection of maternal blood to determine the three parameters. Normally in sixteenth week of pregnancy,maternal serum AFP investigates (alpha-fetoprotein), E3 (conjugated estradiol), hCG (human chorionic gonadotropin). If the markers are in disarray, is carried out amniocentesis, amniotic fluid. From the amniotic fluid are investigating karyotype (chromosomal analysis) of the fetus and the amniotic fluid AFP. Biochemical screening is of course supplemented by ultrasound examinations and its accuracy is required accurate estimate of the age of pregnancy.

Symptoms Edwards syndrome and Patauova

Edwards syndrome is characterized by mental retardation, failure to thrive, often severe heart defect. Typically, the newborn in hypertonus, increased muscle tension. On his head is a striking header projecting and receding jaw. Ears are malformed and annealed low. The breastbone is short.Characteristic is also holding his fist when the second and fifth fingers are crossed through the third and fourth. The feet have the typical appearance of “rocking chair” with a noticeably prominent heels. Furthermore, the present simian crease in the palm of a simple majority to curl the toes.Nails are mostly nedovyvinuté.

Patau syndrome after birth also characterized by severe growth and mental retardation. Are there significant impairment of the central nervous system arinencefálií, holoprosencephaly.Forehead is prominent. Brain and head are reduced. May be present coloboma of the iris, iris sometimes even not created or missing the entire eye. The earlobes are malformed. There are often cleft lip palate. Hands and feet may develop a different number of fingers, usually excessive. Like largely to 18, there is a typical crossing of the fingers and the typical sole shape “rocking chair”.The palms are often simian crease. There are congenital heart defects, congenital malformations of the genitourinary tract.

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