The decision of whether or not to have a diagnostic test, such as amniocentesis, can be a difficult decision to make. Your genetic counselor can help answer any questions, and help you come to the decision that is best for your personality, beliefs, and values. Some things that may be helpful to think about if you are thinking about undergoing an amniocentesis procedure are:
- Do I feel like I need ‘yes’ or ‘no’ answers to be able to enjoy the rest of my pregnancy?
- If I feel like I need a ‘yes’ or ‘no’ answer, and I OK with the small risk for miscarriage that is associated with these procedures (generally thought to be less than 1 in 200, or 0.5%)?
- Would I feel OK waiting until the baby arrives to know for sure if they have one of these conditions?
- If I knew that the pregnancy had a chromosome condition, would it affect my decision on whether or not to continue the pregnancy?
- If I knew that the pregnancy had a chromosome condition, would it affect my decision on what to do after the baby arrives (such as adoption)?
- Are there other trusted people in your life that you can turn to for advice and perspective (i.e. religious leader, family member, friend)?
If someone is still having difficulty deciding whether or not they want a diagnostic procedure, it may be helpful to think of the various outcomes. If someone would end a pregnancy if it was found to have a chromosome condition, then the two outcomes that would be the least favorable would be either:
- Not having a diagnostic procedure, such as amniocentesis, and then finding out later that the pregnancy had a chromosome condition that could have been diagnosed early in pregnancy, OR
- Having a diagnostic procedure, such as amniocentesis, and then having a subsequent miscarriage, and finding out that the pregnancy did not have a chromosome condition.
Either of these ‘worst case’ scenarios could be difficult to handle, but if you were faced with them both, which seems like the more difficult option?
These questions are not meant to be the be-all end-all of things to consider when deciding whether or not to have an amniocentesis, but they can be a good place to start.
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An amniocentesis procedure can be done in the doctor's office by a high-risk pregnancy doctor called a perinatologist. Amniocentesis is an outpatient procedure, meaning you can usually go home soon afterward. Most women find that it can be uncomfortable and many compare it to having intense menstrual cramps, but generally…
The type of results may vary depending on the type of testing that is done on the amniocentesis sample. The four main types of testing that can be done on amniocentesis samples are: traditional chromosome analysis (also called a karyotype), chromosomal microarray, familial mutation testing, and fluorescent in-situ hybridization (FISH).…
This can be difficult news to hear, and everyone handles situations like this in different ways. It is often helpful to talk with your doctor or genetic counselor to make sure any questions that you have are answered, particularly if the results are complex or confusing. Even if you are…
Last updated on Aug 21st, 2019