sexta-feira, 8 de março de 2013

Patau Syndrome

Trisomy 13 occurs in about one in 12,000 live births, and has a higher frequency in abortions. Trisomy 18 is slightly more common, with a frequency of between 1 in 5000 and 1 in 7000 live births. Still unclear how the presence of extra chromosomal material originates anomalies characteristics of syndromes. Chromosomal analysis confirms the diagnosis of trisomy 13 and trisomy 18. 
Evolution
Patients with trisomy 13 or 18 have a variety of defects that require careful assessment during the neonatal period. May need imaging studies of the brain, heart, kidneys and abdomen associated with assessment of nutritional status and respiratory system. The increased muscle tone, incoordination and convulsions swallowing are factors which make these patients have an increased risk of aspiration, which can further aggravate the respiratory (apnea). The prognosis of these syndromes is reserved, with a mortality elevada.As children with these syndromes have severe psychomotor developmental delay.
Treatment and Prevention
During the neonatal period, have to be made important decisions regarding remedial measures to be implemented. Diagnosis is often during the prenatal period, allowing inform parents sooner. In the neonatal period, it is important to make the detection of anomalies present, and to ensure a proper nutritional support. Should be considered the type of surgical intervention appropriate to each case.

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