Prenatal tests are said to be more accurate than ever before and we are screening for genetic abnormalities as early as 9 weeks into a pregnancy. Pieces of your baby’s DNA actually circulate in your bloodstream during pregnancy. The latest tests, NIPT’s or Non Invasive Prenatal Tests are engineered to test primarily for Trisomy 13, 18, and 21.
These tests are offered by a number of companies (primarily Harmony, Genesis Serenity, MaterniT21, and Natera) and these do not all test in the exact same manner. It is important to differentiate, however, that these tests are SCREENING tests only and warrant further testing before a diagnosis can be handed out. In fact, I was made aware just 2 weeks ago of a mother who had a screening done and was told that her chances of having a baby with Down Syndrome were 99%, however, she went on to deliver a perfectly healthy child without Down Syndrome. This is not the first time I have heard of this occurrence.
It was my choice to not consent to these tests. My reasoning was that I knew I would worry myself sick if there was something found on one of the tests, and I did not want that stress. Personally, I figured that if there were issues of concern, they would likely show up on ultrasounds, I had several and there was nothing found at my level 2 ultrasound that lasted well over an hour. Also, for me, it did not matter if I was carrying a baby with a genetic disorder, it wouldn’t change the outcome of my pregnancy.
What concerns me the most about these tests is that they are performed and, more often than not, a woman who gets a screening with a high probability of a genetic abnormality is not given accurate and up to date information about what that means. These women, statistically speaking, are terminating their pregnancies at alarming rates. The current numbers state that between 60-90% of prenatal diagnosis of Down Syndrome result in pregnancy termination and I personally believe that this is rooted in fear of the unknown.
NIPT tests can have false positive rates and they are not diagnostic. The only tests that tell for certain that a baby will have a chromosomal abnormality are an Amniocentisis and a CVS (chorionic villus sampling) both of which analyze the amniotic fluid surrounding the baby and both carry risks to mother and baby.
Dawn, I really needed to read this today. We haven’t formally announced, but we will be 20 weeks pregnant on Saturday. Today I had my appointment with the perinatologist. They found that the nuchal fold was between 5-6mm and the baby has an EIF. This happened pretty sudden, having all this info thrown at us this morning, so we did opt to have the NIPT screening. She said we should hear back from her probably Monday or Tuesday. She said she wants to over prepare us, just in case. I knew the next person I was likely to reach out to would be you. I opened up the email from you, and this was what I read. Seriously, perfect timing.
Congratulations on your new pregnancy. Regardless of whether your baby has any indicators for DS or not, your life will be enriched. We all pray for a perfectly healthy baby, and as I mentioned I had a mama reach out to me just a few months ago seeking support. She and I chatted many times and she had come to a place of acceptance, and thankfully, less fear. However, she (and I too) got the shock of the century when her babe was born typical, and without the magic chromosome that my son has. I know it only happens in a small percentage of cases, but that false positive can happen. It can go the other way as well, but I am sure you are hoping that tests are wrong, and that is okay. If your child has a high probability of DS, know that there is a whole community here, just waiting for you with open arms! xoxo Dawn (Cedar’s Mama)