Patau syndrome is a genetic condition that can result in a multitude of medical problems in newborns. Typically, children born with this syndrome do not live longer than three days from the time of birth. Because Patau syndrome is a genetic disorder, it is one of the conditions that can be tested for before a child is born. For parents who have a history of genetic problems or who are concerned about genetic problems in their newborn, getting genetic counseling and testing can alleviate worries.
Genetic Counseling
There are many genetic disorders that children can be born with according to Kidshealth.org. These include spina bifida, Down syndrome, sickle cell anemia, cystic fibrosis and Patau syndrome. Genetic testing is the process by which these disorders are detected. A small amount of amniotic fluid is collected and it is tested for cells from the child. These cells can indicate any potential problems with the fetus. Genetic testing and counseling is usually recommended for high risk pregnancies, older mothers and for couples who have a history of genetic disorders in their families. It is also recommended for couples who have had children with genetic disorders in the past.
Patau Syndrome
According to Robert Best, MD and Anthony Gregg, MD, Patau syndrome is a condition that is the result of genetic deformities and recognized by the presence of an extra chromosome on chromosome 13. it is the rarest and most severe of genetic disorders called "viable autosomal trisomies." It was first called cytogenic syndrome in the 1960s. Although symptoms and features of Patau syndrome can vary greatly, mental deficiencies is one the key components of this genetic disorder. Substantial neurological structural deformities and performance deficiencies are used to identify this disorder at birth.
Symptoms
According to Best and Gregg, there are several identifying structural and performance deficiencies that are observed and identified at birth in children born with Patau syndrome. These include cleft lip or palate, polydactyly, microencephaly, rocker-bottom feet, scalp defects, hernias and neural tube defects. Other common events surrounding Patau syndrome include stillbirths and death of the fetus in utero. Often children born with this disorder also have cardiac problems and a neurological defect in which the brain does not develop and separate into two halves.
Causes
According to Best and Gregg, there is significantly greater risk of having a child with Patau syndrome with advancing maternal age. It is often recommended that mothers over the age of 35 to 40 have genetic testing as part of the routine tests that are conducted early during a pregnancy. Maternal age increases the risk of having a child with Down syndrome, spina bifida and a multitude of other genetic disorders. It is thought that the older a mother is, the more likelihood that her eggs will contain genetic deformities that can be passed on to the fetus.
Treatments
For parents of children diagnosed with Patau syndrome, the news can be devastating. According to Best and Gregg, there are several approaches to managing a pregnancy with a fetus with this disorder, provided that the diagnosis is made while the fetus is still in utero. One option is to discuss the possibility of termination of the pregnancy. In the United States, this option is limited by the age of the pregnancy and by the availability of a licensed physician to perform the procedure. Another option is to carry the pregnancy until labor can be induced or occurs naturally. Some parents decide to carry the child to full term and allow nature to take its course. As stated earlier, the most common outcome is that the child does not survive beyond a few days.
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