How This Trisomy 18 Journey Began

I found out on a cool day in January, 2011 that my husband and I were expecting our third little edition. Our relationship had been an uphill battle almost since the beginning. It was my love for my husband and my faith in God that kept me, and keeps me committed to this marriage. He and I had been doing well, and I felt that we were finally working through the major issues, but it was about the same time that i became pregnant with this baby that things started on a fast downhill slope. It was a few days after I told my husband about the baby that he informed he was feeling divorce would be the best thing. Ours is an incredibly long story that has us currently living separately, and me adamantly committed to the well-being of my children, as well as praying for and believing in God's power to make the changes necessary to bring reconciliation to this marriage.

However, this is not our story, it is our baby's. I had decided to have the first trimester screening for the first time with this child. I hadn't done it with my other two, but that was because I was unaware that it would include an extra ultrasound! I love ultrasounds and was excited to have any chance to preview my baby before his or her debut into the world. I never anticipated that the tests would return any abnormal results.

I was actually told by the ultra sound tech. on the day of my screening (2 weeks after the blood tests) that I probably had nothing to worry about because I was so young. (I am in my early 20s) I like most other women was given 1 in 10,000 odds that my baby would have a genetic defect, any genetic defect. I sat for 45mins with my dad near by, watching my little baby move around, its little heart beating a strong rate of 169BPM. It was only after having this time to become even more attached to my sweet child that a doctor I was meeting for the first time approached in my patient room saying, "I have horrible news."

At first I assumed the doctor was joking b/c I was so unsuspecting, but as I studied his face I became acutely aware that his distress was genuine. He talked for several minutes explaining my results and what my baby was indicating. The only words I remember hearing were "lethal" and "incompatible w/ life", I believe that I was literally in a mild stage of shock. There was one last thing he spoke about that I will never forget, the word "termination" was what he used. He suggested I ended my baby's life so strongly, he all but told me it was what I should do. The most I spoke in that brief meeting was to say, "I will keep my baby. I will not have an abortion" and when he hinted that I would change my mind, I responded with this, "I don't believe that this is my choice. I have strong convictions about this and I will not change my mind."


A few days later I sat down with perinatal specialists and genetic counselors who helped me to understand everything that I was told and could not take in a few days prior. My baby had a cystic hygroma (fluid at the back of the neck) measuring 8mm, a clenched fist, a clubbed foot, one artery in the umbilical cord where there should be two, a cystic mass in the umbilical cord, and they were suspicious of HYDROPS (fluid in the abdomen, heart, and lungs). My blood tests that screen HCG levels and PAPPA levels had strongly indicated Trisomy 18 or Trisomy 13. Everything combined, the doctors felt very confident that my baby had Trisomy 18. I had gone from odds of 1 in 10,000 to 1 in less than 2 that my baby has trisomy 18.


At this point I know that all results remain unchanged. The baby still has the hygroma, refuses to open that little hand, has a clubbed foot, one artery in the umbilical cord, and is adamant about not letting all of us know whether we are seeing a he or a she, a Zane Owen or a Michaela Brianna. The changes and new information I have received have not at all resembled good news. The cystic mass in the umbilical cord has increased in size and we now know that the baby has a Ventricular Septal Defect (VSD). The doctors are highly suspicious of more extensive problems with the heart, as am I, but they were unable to get the necessary angle to tell me with certainty what they were looking at. I am not an expert by any means, but I have seen enough ultrasounds to know what those little fast beating hearts are supposed to look like. I have always been able to see each chamber, but with my child I just could not see those chambers. Before doctors told me of the heart defect I had told my sister that something was wrong with the heart. I did not know what it was, I could just see something was wrong.


On that day I agreed to allow them to attempt an amniocentesis which would give the baby a true diagnosis. I had been strongly opposed to this because of the slight risk of miscarriage with the test, but with this new information the doctors felt that having a diagnosis would be extremely beneficial in coming up with a birth plan. Helping all of us make a decision on whether comfort care would be best, or if the baby would be a candidate for the necessary heart surgery. The amnio. didn't work and was extremely uncomfortable.


Today I would ask that any reading this pray diligently for God's will in this baby's life, and for His continued peace to fill my heart. Pray that He will give me discernment and wisdom in making the many life or death decisions that I am faced with that directly affect my baby. I am currently reconsidering the amnio. and I am scheduled for another ultrasound in two weeks, and a fetal echocardiogram when I reach 22wks gestation.