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Inherited Disorders and Birth Defects

Chromosome 18 Defect and Heart Defect

03/09/2009

Question:

I am not sure how to ask my question but my nephew was born on February 16 2009 with a hole in his heart. He was scheduled for an operation but was later cancelled due to a detection of the chromosone 18 defect. His parents were told that he has about 2 months to a year to live. Why is that and is it true that there is not MUCH that can be done for him or is there a possible chance of hope for him? If there is any hope of survival, what are the parents up for -- any major complications? Other than that, the baby seems fine. He moves his hands and feet and opens his eyes and looks around. It all just seems hard to believe. Hopeful Aunt of baby

Answer:

Trisomy 18 is a chromosome disorder in which most babies die before one year of age, due to serious problems with brain and lung functioning. Most babies with this disorder have a congenital heart defect - a hole in the heart of some type. Fixing these holes with surgery does not usually prolong the life of the child, so in most cases, is not done. There can be exceptions, so the family should consult with all the specialists involved in their baby's care.

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Response by:

Francine S Erenberg, MD Francine S Erenberg, MD
Formerly, Assistant Professor of Pediatric Cardiology
School of Medicine
Case Western Reserve University