Trisomy- Pregnancy forum

Trisomy
Most people have 46 chromosomes, in 23 pairs, but some have an extra copy of one chromosome. This is called a trisomy because there are three of one chromsome pair. Having an extra chromosome can lead to a variety of abnormalities that can be quite severe.

Trisomy 13
Trisomy 13 occurs when a person receives an third chromosome 13, instead of two. Trisomy 13 occurs in approximately 1 out of 5,000 live births and causes multiple abnormalities that are often not compatible with life. Unfotunately, 80% of babies that are diagnosed with the condition will die during their first month of life. Babies that have this condition usually have severe mental retardation, seizures, a small head, small eyes, scalp defects, cleft lip/palate, eye defects, extra fingers or toes, ear defects, hernias, undescended testicles and skeletal defects. Babies may also suffer with breathing difficulties, feeding problems, deafness and heart failure. Trisomy 13 can be found during pregnancy with an amniocentesis. The prognosis is poor and most babies will not survive into adulthood. Read more at livingwithtrisomy13.org

Trisomy 18
Trisomy 18 occurs when a person receives a third chromosome 18, instead of two. Trisomy 18 is also known as Edwards syndrome. Trisomy 18 occurs in approximately 1 out of 3,000 live births and is more common among girls than boys. The condition causes abnormalities and often the child will die in the first few months of life. Unfortunately, over half of all babies that are diagnosed with trisomy 18 will die in their first week of life. Symptoms of the condition include a very large uterus during pregnancy, extra amniotic fluid, a low birth weight infant, mental deficiency, small jaws, clenched hands, hernia, heart disease, kidney abnormalities and ear defects. Trisomy 18 can be detected during pregnancy with an amniocentesis.

Trisomy 21
Trisomy 21 occurs when a person receives a third chromosome 21, instead of two. People that have trisomy 21 have 47 chromosomes. Trisomy 21 is also known as Downs syndrome. Downs syndrome is the most common cause of single birth defects and the severity can range from mild to severe. Trisomy 21 occurs in one out of every 800 live births.Common characteristics of Downs syndrome are decreased muscle tone, a flattened nose, small ears, a small mouth, separated sutures of the skull, slanted eyes, short limbs and large heads, Most people that suffer from this condition have moderate to severe mental retardation and delayed physical, social and mental development. The prognosis is getting better for this condition. Many people that suffer from Downs syndrome are living independently well into adulthood.

Trisomy X: Triple X syndrome
Triple X syndrome affects approximately 1 in 1,000 to 3,000 newborn girls. XXX syndrome (also called Triple X syndrome or Trisomy X) affects females who have three X chromosomes, instead of the usual two. It is the most common X-chromosome disorder in females. Triple X is a random mutation, usually inherited from the mother. Parents who have a daughter with Triple X usually do not have to worry about their later children having the syndrome. The mutation is often not diagnosed until later in life.

Comments: Trisomy

Comments 1 to 5 of about 5.

misslynnz - 64 days ago.
I just got my results back from my CVS test. It is a boy! Unfortunately my baby boy will not be viable due to a rare condition called Tetraploidy. It effects 1 in 3,000 and is fatal. He has 92 chromosomes. XXYY What can cause this condition is a twin that did not split or 3 sperm fertilizing one egg. Don't be afraid to get a CVS test if needed. Good luck to all and God Bless!

sg - 98 days ago.
I am 18 weeks pregnant. I got back results from a CVS from two months ago and had to get a follow up amnio. They found that I have 5% trisomy 12 mocaisism. we are devastated and shocked. Nothing on any 2D, 3d or 4D ultra sounds have indicate any abnormalites. The doctors do not know what to tell us. I am confused and wondering what this means for our baby and how to proceed. Anyone have any information? Thank you

jules-in-ny - 170 days ago.
Hey Meg- My son has Tri 21 - we knew at 14 weeks along with a confirmation from amnio - we really had such an emotionally difficult pregnancy after that - I was so angry at first - and then being given the option to 'do something about it' - my OB really seemed puzzled that we wanted to continue through it - and let me tell you a lot of times I questioned myself about continuing on - but my husband was so very strong and we had so much support from family and friends.... I'm glad we did - because Nicholas is now 7 months and an absolute Doll baby - he lights up our life in so many ways. It will still be a while until we know the extent of his abilities but so far with early intervention (which your daughter will be entitled to) he is progressing at a fantastic pace :) - keep strong - keep faith- your little one will be here in no time - find the Yahoo boards that moms and dads have on this topic- they can be a HUGE lifesavor on the tough days. Be Well Julie

ani - 183 days ago.
Megk, 4 pregnancies in 15 months! Wow, you have been thru hell and back! I just wanted to say that a mothers instinct is strong. I believe too many people terminate just based on tests that are not even 100% accurate. There is ALWAYS a margin of error. So keep praying and sending positive vibes to that beautiful unborn child inside of yours :)

megk - 201 days ago.
my baby has trisomy 12 mosaicism, meaning that some of her cells have three copies of chromosome 12 and some are normal. unfortunately, there is no way of knowing how many cells are affected until she is born. most people decide to terminate the pregnancy, we have decided to continue based on the fact that so far, she has had normal ultrasounds and is growing at a normal rate. as far as we know, we are the only people in the US that has a known trisomy 12 mosaic pregnancy. i am just about 23 weeks and we are crossing our fingers and hoping she is healthy. i just want to hold her. this is my 4th pregnancy in the last 15 months and I can't bear to lose another child.