Verify Test Results

First off we want to thank all of you for your thoughts and prayers on our behalf. It is such a blessing to know that our family is so amazing and supportive during this trying time.

Kelsie got a call from the doctor late Wednesday to go over the test results from the blood draw and Verifi test. This test is less evasive than an amniocentesis, however it only tests a few chromosomes for anomolies or defects. The test looks specifically for trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome) & trisomy 21 (Down syndrome). The results came back with negatives for both trisomy 18 & trisomy 21, but positive for trisomy 13. The implication of trisomy 13 in a nut shell is that the baby will not make it. The median life for a child with the syndrome is approximately 2.5 days. Given this news we have decided to do another test to help confirm the findings from the first test. We will be doing an amniocentesis tomorrow as the 2nd test.

We will keep you posted on results as they come to us. Again we really appreciate your thoughts and prayers during this time.

Abnormal Blood Work

This past week has been a whirlwind of information. On Friday we received a call that my second trimester blood work came back a bit high as a possibility of the baby having down syndrome. As normal procedure they set up appointments with a genetics counselor and a high risk pregnancy doctor to further evaluate the findings, and to investigate any possible genetic abnormalities within the family. 

On Tuesday we had our normal routine 20 week ultrasound, the appointment was with the ultrasound tech, she mentioned nothing other than the sex of the baby as part of policy the hospital strictly follows (totally normal). Wednesday was our big day of appointments we first met with the genetics doc who found nothing to be concerned of. Followed by yet another ultrasound and meeting with a high risk doc. At this appointment there were some finding that were concerning. The umbilical cord, the baby is measuring small, and a cleft lip.

The umbilical cord is not formed as a normal cord would be, a normal cord has three blood vessels, I only have two. You can read more info on this here: http://emedicine.medscape.com/article/262470-overview#aw2aab6b4 

The baby is measuring small, approximately 2 weeks small. This could be due to the umbilical cord issue. Since the baby is measuring small they are unable to see one of the kidneys. Kidneys usually form, begin functioning and are visible at 19-20 weeks, since she is measuring smaller the other kidney may appear with time. The doctor informed us that some people only have one kidney and never learn of it until later in life, so this isn't a major issue. 

The last thing they mentioned is that the baby has a cleft lip, they can't tell at this point if the baby has a cleft pallet as well, but I will be back to the hospital every 2-3- weeks for close monitoring of the baby and myself. (the monitoring isn't because of just the cleft lip but because of the cord issue and the fact that the baby is measuring small)They will be doing regular ultrasounds to keep up to date on the babies growth and to closely monitor the situation. 

This is all still new and we have very little information at this point. With time we hope to have more information regarding the situation and the baby. 

We are currently awaiting test results from a blood draw that will help confirm if the baby has Down Syndrome. These results should be back to us on or around February 3. The next ultra sound is scheduled for February 17.