Patau Syndrome Health Article

Diagnosis

Patau syndrome is detectable during pregnancy through the use of ultrasound imaging, amniocentesis, and chorionic villus sampling (CVS). At birth, the newborn's numerous malformations indicate a possible chromosomal abnormality. Trisomy 13 is confirmed by examining the infant's chromosomal pattern through karyotyping or another procedure. Karyotyping involves the separation and isolation of the chromosomes present in cells taken from an individual. These cells are generally extracted from cells found in a blood sample. The 22 non-sex linked chromosomes are identified by size, from largest to smallest, as chromosomes 1 through 22. The sex determining chromosomes are also identified. Patau syndrome is confirmed by the presence of three, rather than the normal two, copies of the thirteenth largest chromosome.

Treatment

Some infants born with Patau syndrome have severe and incurable birth defects. However, children with better prognoses require medical treatment to correct structural abnormalities and associated complications. For feeding problems, special formulas, positions, and techniques may be used. Tube feeding or the placement of a gastric tube (gastrostomy may be required. Structural abnormalities such as cleft lip and cleft palate can be corrected through surgery. Special diets, hearing aids, and vision aids can be used to mitigate some symptoms of Patau syndrome. Physical therapy, speech therapy, and other types of developmental therapy help the child reach his or her potential.

Since the translocation form of Patau syndrome is genetically transmitted, genetic counseling for the parents should be part of the management of the disease.

Prognosis

Approximately 45 percent of trisomy 13 babies die within their first month of life; up to 70 percent in the first six months; and over 70 percent by one year of age. Survival to adulthood is very rare. Only one adult is known to have survived to age 33.

Most survivors have profound mental and physical disabilities; however, the capacity for learning in children with Patau syndrome varies from case to case. Older children may be able to walk with or without a walker. They may also be able to understand words and phrases, follow simple commands, use a few words or signs, and recognize and interact with others.

Prevention

There is no known way to prevent Patau syndrome though it can be diagnosed prenatally via amniocentesis.

Parental concerns

Parents of children born with Patau syndrome should prepare themselves for the possiblity of their child dying within days or weeks of birth, in addition to the poor survival rates past early childhood. Also, parents who have already had a child with the disease and want to have another child should discuss potential problems with their physician.