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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