Trisomy 18

My sister is pregnant with a baby that has Trisomy 18. 

Many people do not know what this disorder is, so I decided to write a post about it. 

What is Trisomy 18 also known as Edwards Syndrome?

At conception, 23 chromosomes from the father and 23 chromosomes from the mother combine to create a baby with a set of 46 chromosomes in each cell. A trisomy occurs when a baby has three number eighteen chromosomes instead of the normal two.

It is a chromosomal defect that happens in one our of every 3,000 births. This does not count for miscarriages or still births. Many miscarriages or still births are thought to be Trisomy 13 or 18 related.

Only 10% of children with Trisomy 18 survive past their first birthday. There is that 10% that have gone on to reach milestones that many thought that they never could. They do have developmental delays and physical defects. They need to live with an assisted caregiver.

Diagnosis of Trisomy 18

An Ultrasound and AFP {also known as triple screen test} can show concerning problems. They will not diagnose Trisomy 18.


CVS {also known as Chorionic Villi Sampling} and an Amniocentesis can determine Trisomy 18. It is important to know that these test's do have a low risk of miscarriage. 

How to Cope With Trisomy 18

• It is important to know that every case is different. 
• Read about other people that have coped with a child that had Trisomy 18.
• Talk to a Genetic councilor and a Pediatrician. Make sure you are on the same page as they are with care.
• Know that it is ok to grieve before the baby is even born.
• You can read more on the Trisomy 18 Foundation and Support Organization for Trisomy 13 and 18 {SOFT}.  
• Contact Now I Lay Me Down to Sleep. They are a Non-Profit Organization that has volunteer photographers that will donate their time and money to come take photo's of babies that may not live long. Part of their mission is to help families grieve.

I'm hoping that everything turns out as it should. My sister's baby is due on my birthday, June 21. His name is one that I picked out, Emmerson. My sister and my mom are rare carriers of Trisomy 18. Whenever I watch this video I cry:

News

My Organized Chaos is hosting yet another cool giveaway. This time it is for a $75 gift certificate to Zutano!

My sister's pregnant! I'd love to win this for her. I'm hoping for a healthy baby girl. There's nothing wrong with boys; it's just that we have two son's, three nephew's and one niece on my side of the family. Our niece is in high school. On my husband's side it's another nephew.

She went in for an amnio because she's a carrier of a rare chromosome abnormality called Trisomy 18. Also known as Edwards Syndrome.

She couldn't get the amnio because her membranes were not thick enough. Amnio's can cause a miscarriage, but with this rare chromosome abnormality she carries; she doesn't have a choice in the matter. They have to have the right doctors on staff if the worst were to occur.

She's scheduled for another amnio at the end of the month.

I do have some good news! My sister did get an ultrasound. The baby doesn't have clenched fists, which trisomy babies are known to have. The baby also has a developing heart and brain! The baby was hiding it's parts. It has to be a healthy girl I'm thinking and hoping!

Please put out positive thoughts for my sister! I've been on edge with this whole situation because because it effects the whole family, I love everyone so much!