My Amniocentesis results are abnormal. Now what?

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 familiar with the condition, it can be helpful to talk things through with your provider, or to get any up-to-date information, as things in the medical field change rapidly.

What comes next is a very personal and often challenging decision to make. There are generally three ways to move forward once you find out that the baby has a chromosomal or genetic condition:

  1. Continue the pregnancy and make preparations (both mentally and medically) for when the baby gets here
  2. Continue the pregnancy and place the baby up for adoption. There are many programs available that can help find a family for a baby with special needs.
  3. Do not continue the pregnancy

Your doctor or genetic counselors can help to answer any questions you may have about your options, and may have other resources that may be helpful.

 

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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).…
  • 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…

Last updated on Apr 7th, 2018