Five excruciating days after hearing the results of my quad screen, I was finally on my way to find out if the slightly elevated Alpha-fetoprotein (AFP) level meant that the baby had a neural tube defect. I had done my best to mask the anxiety I was feeling from my children and my husband and avoided speaking to family and friends out of fear that they would know something was up. There was no reason to alarm others just yet. I continually reminded myself that the baby was most likely fine, but even when a trained professional tells you not to worry, worry is something that a mother cannot avoid. I couldn’t help but stare at my two healthy children as they moved freely and quickly and think about what it would be like if our third child didn’t have those abilities. Never before had I examined their backs so intently as they bathed and changed in and out of their clothing. My astute seven year old asked several times what was wrong and if I was sad or mad, which helped me to shelf my anxieties for temporary bouts of time. As I drove to the appointment, it occurred to me that less than four hours of sleep the night before had me running purely on worry-induced adrenaline.
Shortly after providing my insurance card and filling out pertinent paperwork which included the basic health histories of both my husband and myself, my four year old and I were escorted into the genetic counselor’s office. She informed me that her job was to thoroughly explain what the quad test measures and what each measurement could signify, go over my specific test results, delve into the health histories of my husband and I more in detail, and inform me of what to expect during the ultrasound.
Her explanation of what the quad screen measures matched what I had learned online and from prenatal pamphlets and booklets, including the fact that a high AFP reading is one that may indicate the possibility of neural tube defects such as spina bifida or anencephaly. However, facts that I did not encounter through my own research were that an elevated AFP reading could also indicate abdominal wall defects, a kidney issue, or a facial cleft. Basically, any type of abnormal opening in the fetus could cause an elevated AFP. Another thing that I learned was that each of the four measurements helps to generate a risk rating for Down Syndrome, Trisomy 18, and neural tube defects.
Next, we discussed my test results. The good news was that my risk ratings for Down Syndrome and Trisomy 18 were very low. Based on the readings, I had a 1 in 5,000 chance of having a child with Trisomy 18 and a 1 in 3,064 chance of having a child with Down Syndrome. Moving on to my risk rating for a neural tube defect, the odds were 1 in 267. Upon hearing that news, I let out a long sigh. It wasn’t necessarily a sigh of relief though because 1 in 267 sounded high even in comparison to my other odds. The genetic counselor must have noticed the unwavering tension in my gaze because she quickly went on to explain that a normal AFP reading was from 1.0-2.5 and that my reading was barely outside of this range at 2.54. At that point, I teared up because for some reason being that close to “normal” made the odds sound so much better. I then asked what a high AFP reading would be in her opinion, and she said 6 or 7. We then revisited the fact that since the quad screen is, as its name suggests, for screening purposes only. There was still the possibility that the baby could have an abnormality even with very low risk ratings. This prompted me to ask about anencephaly in which parts of a baby’s brain and skull fail to form. To this she emphatically responded that there is virtually no chance of this disorder with such a low AFP reading and that she would expect a reading of at least 7 if this were even a remote possibility. Discussing the health histories of my husband and I was a pretty insignificant portion of the genetic counseling session because neither of us have any history of chromosomal or neural tube related birth defects in our families. During the final portion of our session, I was told that the sonographer would be going over every centimeter of the baby’s body to take pictures and measurements. She would explain what she was looking at but was not allowed to voice any problems or concerns, that would be the perinatologist’s job. To my surprise, the counselor also told me that I would be able to find out the sex as well if I was interested. This came as a surprise to me in light of the fact that my regular doctor told me that I wouldn’t find out any “fun stuff like the sex” during this visit, so I should keep my already scheduled routine twenty week ultrasound.
Shortly after the sonographer began sliding the transducer over my gelled belly as she narrated the parts of the baby that we both viewed, I had a feeling that the baby was okay. When she finally analyzed the baby’s spine and head, I knew that the baby was okay. At one point, I stared at a frozen picture on the screen displaying my baby’s spine. It was perfect with a thick layer of skin covering every centimeter. I thought back to when I had the routine ultrasounds of my other two children and what a relief it was to see their healthy little bodies. The same feeling of relief came over me at that point, and I felt the weight of all of the worry I’d been carrying for five days suddenly dissipate.
After going through this ordeal, I still can’t decide how I feel about women opting to have the quad screen done if it is only optional. Fortunately, all of the stress that it caused my husband and I was unnecessary. On the other hand, there are some people who don’t receive the same news. Had our situation turned out differently, I would have been glad to know before the baby was born so that possible in utero interventions could take place and preparations could be made. What I do know is that this experience has changed the way I see people who are born with disabilities and their loved ones. In the past when I’ve seen disabled children, my first reaction has always been to feel sorry for the parents or primary care providers. My secondary thought was always of how difficult their lives must be. Because of everything that I’ve learned from this quad screen scare, my first reaction will now be one of compassion. As I agonized over the possibility of my child being born with a neural tube deformity, I realized that even if that were the case, we would have continued the pregnancy regardless of the severity and would have loved her as much as our two healthy children.