Patau syndrome leads to the birth of children with possible cardiovascular, neurological and motor problems
Patau syndrome was first described by the geneticist Klaus Patau in 1960. It is a trisomy on chromosome 13, this is not a hereditary disease. It is simply and unfortunately a genetic accident in 97% of cases. An out-of-place chromosome, a genetic disease, with no guilts and no culprits.
Instead of a pair of chromosomes, as is normal, the person who has a trisomy has three equal chromosomes together. In the case of Patau's syndrome, trisomy occurs on chromosome 13. Down syndrome, also a trisomy, occurs on chromosome 21.
In addition to mental retardation, Patau's syndrome presents severe malformations in the central nervous system and organs the child. Congenital heart defects and urogenital problems usually occur: in boys, cryptorchidism (when the testicles do not come out of the lower abdomen, causing hernias or anomalies), and in the girls two-sided uterus (divided in two) and hypoplastic ovaries, as well as polycystic kidneys.
It is normal for children with this disease to have specific physical characteristics, such as cleft palate and cleft palate, clenched fists and arched feet, for example. Problems with eyes that are usually small, extremely distant or absent, and malformed and poorly positioned ears.
Some diseases are usually associated with the syndrome: heart problems, deafness, mental deficiency, kidney disease, among other conditions. The survival of people with this anomaly is very low, few individuals reach 10 years of age, and intensive care is needed to control symptoms and ensure survival. Unfortunately there is no viable cure for this syndrome, but some surgical interventions may be helpful in reducing the risk of death and even improving some of the symptoms of newborns with trisomy 13. In fact, since birth these children are accompanied by medical staff, since cardiac impairment is the leading cause of death. Unfortunately the post-surgical prognosis of the clinical picture does not bring much hope in the vast majority of cases. Even children who are discharged after surgery require careful and constant medical follow-up. Part of the therapy includes training parents to be able to perform some tasks that may be of vital importance to the newborn.
The difficulties and limitations of life are many in children affected by Patau syndrome, all associated with heart, neurological, and motor problems. Most children (about 90%) do not talk and do not walk without the aid of
The incidence of Patau syndrome is 1 in 5,000 births. Definite causes for Patau syndrome do not exist, but as most trisomies usually occur, the age of the mother may be a risk factor. Women over 35 are more prone to this chromosomal accident, responsible for most spontaneous abortions. Only 2.5% of the pregnancies in which the fetus has the term-long syndrome.
Non-invasive prenatal genetic tests are able to detect the risk of a baby being born with Patau's syndrome as of the 9th week of pregnancy, with a success rate of 99.99%. Since the advent of this type of test, which has been available in Brazil since April 2013, thousands of couples worldwide are using this test, which can diagnose other chromosomal syndromes, such as Edwards Down syndrome and X chromosome changes and Y, in addition to genetic microdeletions. They are usually couples who fall into some type of genetic risk of conception, whether in family history (hereditary disease), whether due to the mother's age, or because of other criteria. In less than 3% of cases there may be recurrence of Patau's syndrome in future pregnancies, this occurs when one of the parents has a change in karyotype examination.Science provides the resource for the couple to be fully informed about the health of the baby they are expecting. The information on this type of genetic test serves to bring total peace of mind to the ongoing pregnancy or to alert the couple to the problems they will have to face in case of a positive result for Patau syndrome or another genetic disease.
Accidents, including genetic ones, are part of life. But it is only the attitude of the couple in the face of the genetic accident that will make a difference to their lives.
Each month the belly grows a little more, a reason of pride for the future mother. This may be the most obvious change in a woman's body during pregnancy, but she will not be the only one by far. During the 9 months of gestation, the woman feels a series of other alterations, due mainly to the hormonal upheaval.
The advancement of technology has changed many things in today's society, including education of children. Children have stopped playing in the streets to spend the day at home, on a computer or on the cell phone, but some experts believe that it is necessary to reevaluate this creation today. Some psychologists at Harvard University, are studying ways to properly educate the child in these times of change.
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