Prenatal Care and Genetics Care, Interconnected NTD (anencephaly)

An ultrasound in progress
An ultrasound in progress

My husband Tony and I had decided that once we left the Chicago area and relocated it would be time to have children. In the summer of 1995 we moved to Madison and by Christmas we had a wonderful secret that we couldn’t wait to share with our family and friends.

I knew a lot about pregnancy–about what could go wrong, about birth defects. This knowledge drove me to be more than conscientious and extra precautious during this pregnancy. I faithfully took my prenatal vitamins prior to and during the pregnancy. I ate healthy foods. I got moderate exercise. I avoided cigarette smoke and anything potentially toxic. During my 16th week of pregnancy, I went to the doctor for a routine blood test called the “triple screen”. I took the test and really didn’t have worries that I would get bad news.

About one week later I received a call from

my OB. My heart skipped a beat. I knew there was no good reason for a personal call. She informed me that one of the levels from the triple screen was elevated and asked that my husband and I come in for an ultrasound as soon as we could. I was devastated. Tony and I read our baby book. We read our triple screen handout. Our dates weren’t off. I was sure I wasn’t having multiples. We felt there was no glitch, no mistake; this was bad–very bad.

An ultrasound was scheduled for the very next day. It was a Thursday. I can recall the smell of the office and feel the chill I experienced lying there with a sheet draped over my belly. The technician was silent while moving the wand over my belly. Our doctor said, “I have bad news guys”. The tears were streaming down both my husbands’ and my face. Our child had “anencephaly”. This was a neural tube disorder and, in our case, our baby’s brain had not developed. Our child would not live after birth. I expected bad news at this visit, but nothing like this. I was numb.

Tony and I knew little about anencephaly. We didn’t know that genetics is involved. Shortly after we lost our baby, we met with Connie, our genetics counselor. The visit answered so many of our questions, such as will this happen again, what are the odds this will happen again, what are the reasons for this happening, and what can we do to better our chances. Connie gave us an in-depth explanation about anencephaly and other neural tube disorders. She also explained to us that there was something we could do to help decrease our chances of having another baby born with anencephaly or other neural tube defect. There were no guarantees; it was all about odds and the odds were in our favor, especially if I took a simple vitamin supplement called folic acid. I was so relieved to hear that there was something proactive I could do. We left the visit with the answers we needed and with high hopes for acquiring the family we desperately wanted.

About six months later, I became pregnant again. Tony and I were happy, but the fear of finding out that this baby might have a neural tube disorder did remain in the back of our minds. We “passed” the blood test for the neural tube disorders this time around. However, one of the blood levels was low. We met with our doctor who explained that the baby could possibly have Down syndrome. We decided to have an amniocentesis to find out if there was anything wrong. We couldn’t believe we were in this nightmare again. When the results came back, our fears were swept away. We had a healthy baby in utero!

Our son Joseph was born without complication in 1997. He was the greatest gift Tony and I have ever received. All of our worries and all of the bumpy times we endured with the pregnancies did not deter us from having the family we so wanted. When Joey was just 14-months-old Tony and I conceived again. We, once again, had a difficult pregnancy, but this time there were no scares of a disability. Our healthy identical twin daughters were born in 1999. What a family we now have!