When my husband and I were told about out baby's diagnosis, because of my research I knew that I wanted to have an amniocentesis. In my research I learned that an omphalocele can be an isolated birth defect (meaning your child could just have an omphalocele) or it could be a defect because of other chromosomal issues. Some of those chromosomal abnormalities could include: Trisomy 18 (http://www.trisomy18.org/site/PageServer?pagename=homepage), Trisomy 13, Trisomy 21, Turner Syndrome (http://kidshealth.org/teen/diseases_conditions/genetic/turner.html), triploidy (from what I could tell, children diagnosed with this either pass away inutero or shortly after birth), Beckwith-Weidemann syndrome, as well abnormalities in other organs and body parts. Please be aware that if you look up these syndromes online there can be some graphic pictures. I waited until I was READY to view those pictures...they can be really difficult to look at when you are already in a very sensitive state.
It was because of this information that we wanted to know exactly what we will dealing with to get the proper care for myself and our baby. On May 14, 2009 my husband and I went to our Maternal Fetal Medicine office for my amniocentesis. When we first arrived I had my temperature and blood pressure taken (my blood pressure was very high because I was so anxious and scared). Next we met with the genetic counselor to make sure we understood what was going to happen. We discussed the actual chromosomes that were going to be looked at, how much amniotic fluid was going to be taken out, how the procedure was going to be performed, and I had to sign waivers that stated how to take care of myself after the procedure and precautions to take when the amniocentesis was over.
Needless to say, I was terrified, but the sonographer was incredibly honest and intelligent and reassured me through the whole process. I was asked to take my shirt off and put on a gown and then they began an ultrasound to observe where the baby was located in order to perform the procedure safely. My entire stomach was swabbed with betadine (to sterilize) and the doctor came in to begin the amniocentesis. I tried not to look at the needle but I did, it was long but very skinny...I was told I would feel a pinch and cramping and that is what I felt. It did hurt and I tried to stay calm but it was a little difficult. I watched everything on a television screen from the needle going in, to the tube being inserted, to my baby's hand reaching for the tube as the fluid was being taken out. All of a sudden I felt a tightening of my abdomen and I was told that I had just had a contraction which raised my placenta stopping the removal of fluid. I was reassured that this does happen, however they were unable to get as much fluid as they had wanted and therefore I could not get the FISH (which tests for Trisomy 13,18, and 21) results which come in 48 hours...we had to wait the full 2 weeks for our results. Before I left the office, the sonographer made me memorize these 4 things: CALL your doctor immediately if: 1) I feel like I peed my pants and I know I didn't (that is amniotic fluid leaking) 2) A gush of blood like I got my period 3) A temperature over 101.0 F 4) Intense cramping to the point that I couldn't breath. Once I repeated those 4 things from memory I was cleared to go. I had my blood pressure taken two more times, it was back to normal and I was released.
I did not go to work the next day, I lay on my couch, ate fruit, drank lots of water, and watched television. The third day I felt alot better and did some shopping but I was having some abdominal cramps after that and decided to rest for the remainder of the day. After that I resumed my normal activities and I was fine.
Two weeks had gone by and because I felt like I just couldn't deal with getting the results I asked that my husband be called with them instead of me. The day came, the phone call came and we were told that no cells grew from the fluid therefore there were no results...we were devastated and back to square one. I was scheduled for another amniocentesis. This time no matter how much fluid they got we decided that we were getting the FISH test...some news is better than none...for us at least.