I signed the consent form and my blood was drawn for the quad screen on a Tuesday. We had the test done during my first two pregnancies, and there wasn’t any question about whether to have it done this time or not. Honestly, I don’t even remember giving it much thought the first two times and never even fully understood what the test could detect other than the possibility of Down Syndrome. Worries of Down Syndrome have plagued me this time around due to the fact that I’m thirty-five years old, an age when a woman’s pregnancy was once considered geriatric. So this time, as I signed the consent form, it wasn’t just an option. Instead, it was a necessity because the idea of having a child with a chromosomal disorder terrifies me. Also, being fortunate enough to already have two healthy children makes me wonder if the odds are still in our favor. Before I signed, my doctor carefully explained that even if any of the test readings are found to be outside normal limits, many times it is nothing to be alarmed about. Follow-up measures would be taken to further determine possible fetal abnormalities. After I signed, she said that she’d call by Friday to deliver the results regardless of the findings.
On Friday, when my youngest son and I returned from the Y, there was a voice mail from the doctor. She was calling with the test results and requested that I return her call. My initial response was to worry. Actually, my only response was to worry. Why didn’t she just say that the results all came back normal? Was it against hospital regulations to leave benign information like that in a voice mail? Yes, I assured myself, it was. No. Something had to be wrong.
With my thoughts running wild, I somehow managed to calmly leave a message at the doctor’s office saying that I had received her message and would be waiting all afternoon for her to call back. The second I hung up, torturous thoughts continued to flood my brain. If the test results determined the possibility that our child may have Down Syndrome, what would we do? Would we consider aborting if it were confirmed? This test can determine other abnormalities. Could there be something else wrong? What? Things have been going so well for us. Life is good. Every one in our family is healthy. In fact, we don’t have any friends or family who’ve had children with any developmental or chromosomal issues. Could this fate befall us?
As I rushed to get out of the shower, the phone rang. I quickly turned the water off and reached outside the curtain to grab the phone from the floor. It was my doctor. It’s difficult for me to remember the exact details of our conversation because I was in a state of mental shock and disbelief. I do remember specific phrases from the doctor like “red flag,” and “Try not to worry because it doesn’t necessarily mean there’s something wrong.” There was a calm reassurance in her voice, but it didn’t help to alleviate my utter terror. I did my best to keep my composure even though I could feel tears welling up. She spouted more phrases such as, “neural tube defects,” “perinatal ultrasound,” and “spina bifida or anencephaly.” I had little to no knowledge about what these things were. I had heard of spina bifida before and vaguely remembered reading about various birth defects in particular pamphlets that were given to me in the hospital’s prenatal welcome packet. She assured me that we would know definitively if the baby did have a developmental issue once the high-resolution ultrasound took place and that someone would call me by the end of the day to schedule the appointment. When I inquired about whether or not I should keep the appointment I had already made for my routine twenty week ultra sound, she replied, “Yes, absolutely. You won’t find out any of the fun stuff like the sex during this ultrasound so you’ll definitely want to keep that one scheduled.” Fun stuff? It made me queasy to hear her say that. I couldn’t think past the horror of these results. With two boys already, the sex of the baby which has been a huge topic of debate and eagerly anticipated by many family and friends, was no longer important. I simply didn’t care about the sex of the baby anymore. I felt like I had more questions, but couldn’t think straight, so the call ended.
Neural tube defects? Spina bifida? Ana-what? I don’t even remember how to say it. I turned the shower back on and stood under the hot water with my eyes closed while I prayed and tried to calm myself. It eventually occurred to me that praying wouldn’t help. If the baby does have a neural tube defect, my praying won’t change it. If there is in fact something wrong, then we will have to process and deal with it once we are certain. I decided that the only thing I could do was finish my shower and learn more about the possibility of false positive test results and neural tube defects.
So, I proceeded with multiple Yahoo searches which include: spina bifida, false positive afp results, anencephaly. spina bifida and fetal movement, fetal movement and spina bifida during pregnancy, symptoms of spina bifida, symptoms of spina bifida during pregnancy, quad screen, and perinatologist.
Based on hours of internet research and on documentation regarding birth defects and testing during pregnancy which I received in the hospital’s prenatal packet, the following is a summary of what I found useful.
The quad screen is a blood screening test that is typically done between weeks 15 and 20 of pregnancy which measures the levels of four substances in a pregnant woman’s blood:
* Alpha-fetoprotein (AFP), a protein made by the baby’s liver
*Human chorionic gonadotropin (HCG), a hormone made by the placenta
*Estriol, a hormone made by the placenta and the baby’s liver
*Inhibin A, another hormone made by the placenta
Results of the quad screen can indicate the risk of carrying a baby with certain developmental or chromosomal conditions, such as spina bifida or Down syndrome. It does not diagnose whether your baby actually has an abnormality, but only signifies that further testing should be done. Spina bifida is a birth defect that occurs when the tissue surrounding a baby’s developing spinal cord doesn’t close properly. The severity and post birth symptoms of this condition vary from case to case. Test results which may suggest the possibility of a neural tube defect such as spina bifida are generally followed up by a high-resolution ultrasound.
What struck me more than anything I read online was the numerous accounts of “false positive” quad screen results. It made me wonder if getting the test at all is ever a good idea. If further testing revealed a neural tube defect, would my husband and I even consider an abortion? Typically, a traditional twenty week ultrasound would reveal any issues with the baby’s development. Was getting this test done two to five weeks prior and potentially finding out that there could be a problem worth all of the worry? After reading more about spina bifida, I decided in our case that it was because fetal surgery has helped to improve post birth conditions for children with this defect. The more I knew, the less anxiety I felt.
In the midst of my online research, I received a call from my doctor’s office letting me know that my paperwork was being sent over to United Hospital’s perinatal department. Even though it was already 3:30 Friday afternoon, there was still a chance that they would call me to schedule the advanced ultrasound before closing for the weekend, but if I did not hear from them within thirty minutes, I should give them a call. So after waiting an eternal thirty minutes, I called only to find that they had not yet received my paperwork and would be closing shortly. I should be receiving a call first thing Monday morning to schedule to definitive perinatal ultrasound, and so I will do my best not to worry and just wait.