PATAU SYNDROME

CHROMOSOMAL DISORDERS

PATAU SYNDROME

WHAT IT'S PATAU SYNDROME

Patau's syndrome also called Trisomy 13 syndrome Is a syndrome characterized by multiple malformations, commonly including scalp defects, hemangiomas (blood vessel malformations) of the face and nape of the neck, cleft lip and palate, malformations of the heart and abdominal organs, and flexed fingers with extra digits. Patients with Patau syndrome are also profoundly mentally retarded. This syndrome is due to the presence of an extra chromosome 13 (trisomy 13). The majority of trisomy 13 babies die soon after birth or in infancy.

CAUSES

CAUSES Usually is caused by spontaneous genetic mutations that occur at the time of fertilization. Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13.

HOW IS IT DIAGNOSTICATED?

How is Trisomy 13 Diagnosed? Pregnancies at increased risk for Trisomy 13 can be identified through screening tests such as non-invasive prenatal testing (NIPT) and ultrasound examinations. The diagnosis can be confirmed prenatally with better than 99% accuracy through chorionic villus sampling (CVS) or amniocentesis.

IT CAN BE PREVENTED

HOW IT CAN BE PREVENTED ? Researchers don't know how to prevent the chromosome errors that cause these disorders. There is no reason to believe a parent can do anything to cause or prevent trisomy 13 or 18 in their child. CURES For now there's no cure that make the baby survive and have a "normal" life but it exists a cure that is a heart surgery that gives the baby a life expectancy of 1 more year, meanwhile the baby has more time to live and the doctors more time to solve another problems such as breathing to give the parents and the baby more time.

LIVE EXPECTANCY

n LIVE EXPECTANCY - Many babies with trisomy 13 die during the first days or weeks of life. Only between 5 and 10 percent of children with this disease live after his first year of live. There aren't adults with trisonomia 13. - Mothers older than 35 years old have more probabilties to have a baby with trisonomy 13. The chance of having a baby with this syndrome is 1 in 10,000.

TRISOMY TYPES

Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells. - Trisomy 13: the presence of an extra chromosome 13 (third chromosome) in all cells. -.Mosaic trisomy 13: the presence of an extra chromosome 13 in some of the cells. - Partial trisomy 13: the presence of a part of an extra chromosome 13 in cells.

SYMPTOMS

SYMPTOMS

• Low birthweight
• Small head with a sloping forehead
• Usually there are major structural problems with the brain including holoprosencephaly, when the brain does not divide properly
• Close-set eyes
• Underdeveloped nostrils
• Eye problems
• Ears low-set and unusually shaped
• Scalp abnormalities that resemble ulcers
• Birthmarks that are purplish-red
• Extra fingers and toes (polydactyly)
• Feet with prominent heels
• Heart defects, kidney problems
• Omphalocele, a condition in which some of the abdominal organs protrude through an opening in the abdominal muscle around the umbilical cord.

TESTS

NIPT (non invasive prenatatal testing) CVS (Chorionic Villus Sampling) It's a non-invasive prenatal test, based on an analysis of the mother's blood, which allows the detection of the most frequent chromosomal abnormalities, mainly Down syndrome of approximately 95% for the detection of trisomies 13 and 18, from week 10 of pregnancy. CVS AMNIOCENTESI ULTRASOUND EXAMINATIONS

PATAU SYNDROME

TRISOMY 13

TRISOMY 13

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DEFINITION Patau's syndrome also called Trisomy 13 syndrome Is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body's cells. It's also called trisomy 13. Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents.