Trisomy 9 (and its variants) may be diagnosed and/or confirmed after
birth (postnatally) by a thorough clinical evaluation, identification
of characteristic physical findings, chromosomal analysis, and other
specialized tests.
In addition, diagnostic evaluation may include
various studies, including advanced imaging techniques, to help detect
and/or characterize certain abnormalities that may be associated with
the disorder (e.g., particular craniofacial defects, other skeletal
malformations, brain abnormalities, etc.).
In addition, a thorough
cardiac evaluation may be advised to detect any heart abnormalities
that may be present. Such evaluation may include a thorough clinical
examination; evaluation of heart and lung sounds with a stethoscope;
x-ray studies; tests that record the electrical activities of the heart
muscle (electrocardiography [EKG]); a technique in which sound waves
are directed toward the heart, enabling evaluations of cardiac motion
and structure (echocardiogram); or other measures.
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Last Updated ( Saturday, 13 November 2004 )
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