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18: Trisomy 18
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Medical care for individuals with Trisomy 18 is supportive, and focuses on providing nutrition, treating infections, and managing heart problems. During the first months of life, infants with Trisomy 18 require skilled medical care. Due to the complex medical problems, including heart defects and overwhelming infections, infants have a 5% chance of surviving to age 1 year. Advances in medical care over time will, in the future, help more infants with Trisomy 18 live into childhood and beyond.
Trisomy 18 results when each cell in the body has three copies of chromosome 18 instead of the usual two copies. Trisomy 18 can ... result from an extra copy of chromosome 18 in only some of the body's cells (mosaic trisomy 18). Rarely, trisomy 18 is caused by a rearrangement of chromosomal material between chromosome 18 and another chromosome; as a result, a person has the two usual copies of chromosome 18, plus extra material from chromosome 18 attached to another chromosome. These cases are called translocation trisomy 18.
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The physical appearance of the child at birth will point towards Trisomy 18. Before birth, ultrasound can detect abnormalities in the fetus. Genetic testing by amniocentesis before birth or blood test after birth can confirm the diagnosis. Ultrasounds of the heart and abdomen can detect abnormalities, as can x-rays of the skeleton.
[One] type of trisomy is Trisomy 13 (Patau's Syndrome), which occurs less frequently than Trisomy 18. Although full trisomies may occur at any position, the extra genetic material usually causes such problems that the baby cannot make it to term. As a result, these three trisomies: 21, 18, and 13, are the only full trisomies that have ever led to a live birth.
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peri010.jpg (79733 bytes) This karyotype demonstrates trisomy 18 (47, XY, +18) ... known as Edward's syndrome. It is uncommon for fetuses with this condition to survive, so the incidence is only 1 in 8000 live births. It is rare for babies to survive for very long if liveborn because of the multitude of anomalies that are usually present.
While some children are diagnosed with Trisomy 18 after birth, the majority are diagnosed prenatally. Among prenatal tests, there are screening tests and diagnostic tests. Screening tests indicate an increased risk for Trisomy 18, while diagnostic tests provide an actual diagnosis of Trisomy 18.
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