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Genetic Disorders

Testing for Genetic Disorders

By Carma Haley

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Yvette De Luca of Phoenix, Ariz., took the risk. "I considered genetic testing because I was afraid my kids would inherit my asthma," she says. "There was nothing that I wouldn't have done to keep my kids from getting that gene. Then I realized it wouldn't make a difference. The doctors couldn't keep my kids from getting the asthma genes from me, and I was having children regardless."

Oftentimes, couples who are not sure if they are a carrier for a genetic disorder (due to being adopted, parents being deceased or poor family records) will undergo genetic testing in an attempt to ease their own concerns. However, this approach may not always be helpful. According to Hanson, genetic testing may only increase the amount of worry instead of ease it.

"Genetic testing is used to determine if a person has any defective genes," says Hanson. "The problem with that is that everyone has some kind of defective gene. The presence of perfect people is merely fiction. So when couples find they have a gene defect, they begin to worry, become concerned and question the presence of that gene. More likely than not, the gene defect is not of a medical concern and will not affect the pregnancy or the baby. But if it's your gene and your baby, you worry anyway."

"I had three miscarriages and doctors were trying to figure out why, so we ended up having our blood tested for possible chromosome deformities," says Linda Sherwood of Lake City, Mich. "Mine came back showing [a deformity]. Doctors declared it was inactive material for me, but that the fetus may copy it wrong. They recommended I have an amniocentesis, so I did. I found out my baby was a girl and that she had [the deformity]. I also found out that the amniocentesis didn't alleviate any of my worries or concerns – it added to them. After three miscarriages I now have four kids. I only had genetic testing for the first one."


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