Trisomy 18, also known as Edwards syndrome, is a condition which is caused by a chromosomal defect. It occurs in about 1 out of every 3000 live births. The numbers increase significantly when early pregnancy losses are factored in that occur in the 2nd and 3rd trimesters of pregnancy.
Unlike Down syndrome, which also is caused by a chromosomal defect, the developmental issues caused by Trisomy 18 are associated with medical complications that are more potentially life-threatening in the early months and years of life. 50% of babies who are carried to term will be stillborn, with baby boys having higher stillbirth rate than baby girls.
At birth, intensive care admissions in Neonatal units are most common for infants with Trisomy 18. Again, baby boys will experience higher mortality rates in this neonatal period than baby girls, although those with higher birth weights do better across all categories.
Some children will be able to be discharged from the hospital with home nursing support for their families. And although less than 10 percent survive to their first birthdays, some children with Trisomy 18 can enjoy many years of life with their families, reaching milestones and being involved with their community. A small number of adults (usually girls) with Trisomy 18 have and are living into their twenties and thirties, although with significant developmental delays that do not allow them to live independantly without assisted caregiving.
Last Friday we traveled over an hour to Cooper where the top doctor in diagnosing T18 through ultrasound performed the ECHO and anatomy scan. We were a nervous wreck and being on the same floor in the same hospital where I delivered, held and said goodbye to my first little girl made it that much more difficult. After about 90 minutes of scans, the doctor looked at me and told me that in 20 years he has never been wrong in diagnosing T18 through screening and that he was not going to let me break that streak! He told me has was 99% sure everything was perfect with our baby girl and that at this point an amnio would be more of a risk to me than beneficial. I had an appointment with my OB this afternoon and he agreed that we made the right decision to not have an amnio.
2 comments:
that's great news! :) xo
Made me cry... again! Love you guys, and LOVE that the weight has been lifted... now it's time to work on names for Babygirl!! xo
Post a Comment