Q&A: I am having a difficult time deciding between CVS and amnio for genetic testing.
I am 35-years-old and expecting my first baby. I am in the 12th week of pregnancy and I'm having a difficult time deciding between CVS and amnio for genetic testing.
I have specific genetic concerns: I have a nephew born with a severe heart defect and another nephew with autism. Cancer runs through both sides of my family. Also, my husband is adopted and has no knowledge of his birth family. We are willing to take the risk of miscarriage to get the diagnostic testing we need.
My doctor has not even mentioned CVS to me but I have been reading about it and it appears to me to be a more logical choice than amnio.
In general, amniocentesis is recommended routinely at 35 years of maternal age. Amniocentesis is clearly the best option for you given the combination of risks, potential complications, and potential problems in interpretation of CVS results.
About 0.8 percent of children born have a heart defect (so called congenital heart defect). Most are not directly inherited, but a significant number have a genetic basis. A reliable comment about autism is also not possible since no additional information is provided. For example, there is considerable difference between classical autism and autistic behavior, with or without associated mental retardation. If autism alone affects your nephew, then your personal risks might be slightly increased, but are almost certainly well below 1 percent.
Remember, about 96 percent of babies born do not have a birth defect, a genetic disorder or mental retardation.