As a healthy 24 year old woman, pregnant with her first child, I never expected my doctor to call me and say that my child was at a higher risk for down syndrome, but this is exactly what happened. My chance, which is usually about 1/1,250 for someone my age, came back as 1/37 after having a quad screen test done at my 17 week check up. In case you don't know, a Quad Screen test is a blood test that claims to be able to tell you whether your baby is at an increased risk for certain problems, namely down syndrome. Recently doctors started giving this test to all women but previously it was saved for women who conceive later in life, typically over 30 or 35, since these are the women who are at a greater chance of having complications in pregnancy.
When I received the phone call with the news of my test results I was not aware of this or much of anything concerning down syndrome, or what the Quad Screen test actually was. To be honest, on the day they drew my blood for the quad screen the nurse briefly explained the test but she waved it off as routine and so did I. I let them draw my blood then quickly went back to carrying on with business as usual. The doctor did do some explaining during that heart-wrenching phone call, but I think most of my understanding came from reading through the experiences of other women on online forums, blogs and YouTube after I had calmed down.
I was referred to a hospital and instructed to make an appointment for genetic counseling and a level 2 anatomy ultrasound. I called
immediately and was lucky enough to get an appointment a week from the day I called. I say lucky because usually these appointments are booked at least 2 weeks out, but waiting 7 days was still agonizing. I probably cried for 90% of the first 2 days after the call. I had to listen to ocean waves & white noise in order to get any sleep and even then thoughts of my baby's health and down syndrome were there to greet me when I woke up each morning.
Genetic CounselingOn the day of my appointment my boyfriend and I met with a genetic counselor. She asked us very detailed questions about our family history; deaths, illnesses, diseases, etc. She even drew out a family tree. Then she further explained the Quad screen results. She emphasized that the test only determines RISK and that it is not very accurate. Even though my 1/37 sounded horrible, it actually came out to being a less than 3% chance of actually having a baby with DS. This somewhat put me at ease. My boyfriend and I had done the math ourselves but it felt better coming from a professional. After explaining this and answering our questions we went over our options for moving forward. More tests of course and depending on those results we could choose to either terminate the pregnancy or continue. She emphasized that we could also choose to leave and not have any further testing done. I chose to have the ultrasound before making any decisions (obviously stalling).
To be honest, that day was very stressful and dark, but being able to see my baby and hear the heart beat did brighten it, if only for a few minutes. This ultrasound was slightly different than normal. Right away she was able to determine the gender. I now know that we are having a girl but that day she told my boyfriend, who kept it a secret until our gender reveal party (that took place a week later). She did a transvaginal ultrasound to measure my cervix and then the normal ultrasound to take measurements of the baby's body parts. This lasted maybe 30 minutes. After she was done she showed the doctor, who came in to discuss what they found. There were 2 'soft markers' that could or could not have been indicators for down syndrome. The bridge of her nose was very faint, which could point to DS but it could also be a part of her appearance, given to her by her father and I. Also the shape of her stomach was odd but not alarming.
At this point, the doctor asked us if we would like to do further testing to find out more about her DS risk. We had two options 1) another blood test that would be more accurate than the Quad screen but it would still only determine RISK or 2) have an amniocentesis done. This is a more invasive procedure that involved using a needle to draw out amniotic fluid to do genetic testing. This is the only test that can tell you with 99% accuracy whether or not your baby has a genetic disorder or not. Unlike the blood tests this procedure does come with risks that I was made aware of through both my internet research and at the doctors appointment. There is a risk of injury to the baby if it moves in the path of the needle while the procedure is taking place. There is also a slightly increased risk of miscarriage for the first 3 days afterwards then it returns to normal. The risk can be 1/400 but my doctor told me it would be close to 1/1000 based on his skill set and experience with the procedure (This is what the specialist told me. The internet had much scarier information about this).
They left the room to give us some time to decide and I must say they were very patient and understanding with us. The genetic counseling session put me at ease but the 'soft markers' found on the ultrasound erased any of that temporary comfort. My boyfriend was very supportive and expressed that he wanted me to make whatever decision I would be most comfortable with, which I loved him for but honestly, it put all the pressure on me! So here we were at the moment of truth. All of the questions I needed to answer for myself, the research I had done and options the doctor had given us raced through my mind. Does it matter if she has DS? Will I terminate if she does? Will the test cause more harm than good? Will it hurt? What if this is just scaring me into spending more money on unnecessary tests? How much is this going to cost? But the main question actually was "Could I wait to find all of this out??"
At that point, I was barely 5 months pregnant with a long road ahead of me. Through the tears that had started to pour profusely I asked myself the frank question "Can I wait until she is born to know?" At that moment I started to envision myself smiling at the Gender Reveal party or Thanksgiving, Christmas, or the baby shower, basically any family event, happy but with a small rain cloud over my shoulder. The doubt and the question in the back of my mind "what if she has DS?". Then I firmly said, "No, I can't go through the rest of this pregnancy like that". So I opted for the Amnio.
The procedure was quick. The Youtube video I watched of the procedure was very similar to my situation and had me adequately prepared. The only difference between the two situations is that the woman in the video got cramps as they inserted the needle and instantly said she was in pain. Me on the other hand, felt absolutely nothing. The doctor and nurse were actually impressed with me. I didn't even know when they put the needle in. But I did watch as he started to draw out my yellowish amniotic fluid into 2 or 3 large syringes. My boyfriend stood quietly in a corner of the room. Ten minutes later we were on our way home. I was instructed to take it easy following the procedure so I worked from home for 2 days immediately after. I was also told not to lift anything heavy and if I had any significant pain or leaking to go to a hospital. Thankfully I didn't have any issues.
Now we had to wait. Two full weeks of waiting anxiously for a number I didn't recognize to appear on my caller ID and give me the most important news of my life thus far. During that time, we planned and threw our gender reveal, which was amazing and a very happy time, despite the fact that the amnio results were lingering in the back of my mind. I tried to stay positive. I prayed, wrote and said positive affirmations, shopped and just tried to ignore the worry and stress that wanted so badly to consume my every thought.
Exactly 2 weeks from the day the amnio was done I was called and told that my daughter was perfectly fine. This was probably the happiest day of my life. The relief I felt was better than any drug you could take and to this day I am thankful I had the procedure done. I'm happy she is fine and that DS is one less thing any of us has to worry about.
Final WordEven though it is very therapeutic to get this off of my mind I wanted to share this for anyone out there that is going through this experience and looking for a little comfort. Reading the experiences of other women online helped me out a lot during the weeks of waiting for my appointment and for the test results so I wanted to contribute some peace of mind to someone out there.
I know this post is long but hopefully, you are still here with me!
I just want to tell you not to worry, everything will be ok. If you get back a quad screen result that is less than desirable please remember that it only calculates a RISK percentage / ratio and that it is not the most accurate test you can have. Please know that staying positive and fighting off the stress is so important and you will be better able to handle your situation if you remain calm. And most importantly remember that you are the mommy. It is your decision, you body, and your baby no matter what the results are.
Thank you for reading :)
The second trimester wasn't all bad! Check out my vlog to hear the ups I experienced with the bad.