Amniocentesis: What to Consider?
Upon finding out your child has a Congenital Diaphragmatic Hernia, one of the first big decisions you will likely have to make is whether or not to do an amniocentesis. This decision can feel overwhelming and confusing, but we are here to help you weigh the pros and cons.
What is an amniocentesis (amnio for short)? An amnio will take place at your maternal-fetal medicine’s office. During the procedure, your doctor will inject a thin needle into your uterus to remove a small amount of amniotic fluid. This fluid will be tested to determine if your Tiny Hero has any genetic abnormalities.
Why would I want to do an amnio? An amnio is commonly recommended as a way of giving yourself and your medical team as much information as possible prior to birth. The results can be used to guide the decision making process about where to deliver, what complications you might expect, and help everyone have time to mentally prepare before delivery day. It helps take some of the unknowns away and allows your family time to research any possible findings. If any of your ultrasounds or blood work detect possible markers, then an amnio can help confirm or rule out another diagnosis.
Although CDH is usually isolated, there is a small chance that it may be a symptom of a genetic abnormality. In these rare cases, when coupled with CDH, the combination could be considered lethal or may need an extremely skilled hospital that specializes in both CDH and the other abnormality. An amnio will allow your family time to research hospital options and find the best delivery location in these cases.
What should I consider before getting an amniocentesis? Having an amnio is a very routine procedure and in the vast majority of cases everything goes very smoothly. During the procedure there may be some discomfort or pain involved, but it is usually quick and minor, if anything. Although, as with any procedure there are potential risks. In this case, there is a slight chance (1%) of infection or premature delivery. It is for this reason that some families will opt to wait until a little later in pregnancy so that the baby can be delivered and treated should this occur. It is worth noting that if a baby with CDH is born too prematurely, below 4 pounds, they may not qualify for ECMO due to their size.
Prior to an amnio, some moms may also need to consider the cost factor. Many insurance companies cover the procedure with just a copay; however, others do not. If the test is too expensive, it may be financially better for your family to wait until your child is born and use a blood draw to check for the same genetic abnormalities instead. This is an easy test after the baby is born but does not allow for changing your plan of care if something were to come back abnormal.
Another thing to consider prior to an amnio is, what will you do with the information and what will it change, if anything? If you can handle the unknown during your pregnancy, you know you would never opt to terminate your pregnancy, and you are already relocating to an incredible hospital equipped to handle most surprises, there could be no reason to move forward with an amnio. However, if you are the type of person that likes time to research, plan, and prepare for scenarios, knowing as much as you can ahead of time may be best for you and your mental health. Pregnancy is already hard and a CDH pregnancy is even more stressful; unloading potential “what-ifs” and having time to plan can be very reassuring to many families.
What if the amnio triggers early labor? Before your amnio, contact your CDH team and make a plan for what will happen in the unlikely event that the amniocentesis triggers spontaneous early labor. If you are far enough along to deliver successfully, ask the CDH hospital if they will be able to get you (via ambulance or plane) prior to delivery if labor cannot be stopped locally. The last thing you want to do is deliver in a hospital not equipped to handle their care and then have your baby transferred out after birth while you recover if you can avoid it. It is good to work with all providers to create a plan, prior to the amnio, just in case.
My doctor wants me to do an amnio, but I don’t want to do it. Is that okay? Yes, in general this decision will need to be made by you and your partner. You do not need to feel pressured or rushed into the decision. It is perfectly acceptable to ask for more time to think about it, for it to be done later in pregnancy, or to opt out completely.
When it comes to treating CDH it is important to remember that everyone’s experience will be unique. What feels right for other families may not feel right for you and that is okay! Every situation is different, every baby’s case is different, and when it comes to CDH there is not a standard for care. Research, talk to your doctors and the baby’s surgeon, ask around the community and take time to weigh the pros and cons. This will help you come up with a decision that feels best for you and your family.
