When Craig and I went for our routine anatomy scan on December 1, several physical anomalies were noticed on our son during the ultrasound and we were referred to a specialist the following Monday. A second ultrasound confirmed all that was seen on the first scan and I had an amniocentesis performed that morning. The following Thursday we received confirmation that our son has Trisomy 18.
Trisomy 18 results by an error in cell division in the developing baby. Instead of the normal pair there is an extra 18th chromosome and this disrupts the normal pattern of development. Trisomy 18 is a life-threatening disorder and over 50% of babies will be still-born. Of those that are born living only 5% survive beyond the first year of life.
Many physical and cognitive anomalies are associated with Trisomy 18. At this point we know that our son is missing one of the two bones in his forearms on both arms, one of his feet is clubbed, he has a choroid plexus cyst on his brain, and both a ventricular septal defect and large hole between the atrium of his heart.
The prognosis for our son is very grim; we wanted to start a caringbridge site to help keep our friends and family up to date on developments with the baby and pregnancy as they come. We are preparing ourselves for many possible outcomes and medical decisions to be made, but we have peace in knowing that God will walk with us and comfort us through every step of the way.