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Cures do not exist for chromosomal abnormalities, but treatments are available to correct some of the conditions that result from them. For example, about half of babies born with Down syndrome have a heart defect. About 10% are born with intestinal malformations that require surgery. And, more than 50% have some visual or hearing impairment. Treatments for many of these conditions allow a better quality of life. Most communities offer special education for mentally handicapped children.

Prenatal testing for chromosomal abnormalities can be helpful in managing the pregnancy for the best care, understanding and preparing for potential problems that the infant may have at birth, or offering the option to end the pregnancy if an abnormality is found.

Because most chromosomal abnormalities are not treatable, genetic counseling can offer guidance to couples who are carriers of chromosomal abnormalities. When the risk of passing on an abnormality is assessed, the couple can then decide whether to continue to try to conceive using their own eggs and sperm, try using donor eggs or donor sperm, consider adoption, or remain childless.

References:

Chromosome abnormalities. National Human Genome Research Institute website. Available at: http://www.genome.gov/11508982 . Updated October 13, 2011. Accessed July 24, 2013.



Last reviewed May 2014 by Kari Kassir, MD

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.

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