Saturday, March 12, 2011

How is the disease diagnosed?

Doctors diagnose Trisomy 13 as soon as the baby is born, the child may have one single umbilical cord.  Usually it can be detected through an ultrasound.  Often there are also signs of congenital heart disease such as: abnormal place of the heart (toward the right instead of left), the atria of the heart doesn’t close completely, and other critical defects.  MRI or CT scans may show a problem with the structure of brain.  A lot of times it’s holoprosencephaly , the joining together of two sides of the brain.  QF-PCR testing allows a doctor to determine the presence of chromosomal abnormality within 24 hours with a very high accuracy rate. 

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