Trisomy Thirteen

[momthatneedsadvice]

My daughter was born 2 months early. She has Trisomy 13. She is now a week and 3 days old. What is her chance of survival. Her docter's really aren't telling me anything. They just keep talling me that there is a chance that she can survive. They won't give me a percentage of those who have survived Trisomy 13. I just want to know my daughter's chance of survival and if there is any thing that could be done to help her survive?

[IWantToBeAMom]

Try this website:
http://www.trisomy.org

I think that will help you as much as anything.

[penny13]

Hi i'm so sorry and truly hope you find all of the answers you need. I just googles it and found out what you were talking about, in the article it said the babies that are born alive with this ususally survive untill the 6th month. I would relly urdge you to be firm  with your dr and get the info you deserve and need. Take care.

[blondie72]

Here is something on it and I will have more.

Trisomy 13 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 10,000 live born infants. Trisomy 13 is due to the presence of an extra #13 chromosome. Approximately 80% of infants with Trisomy 13 syndrome will have a full trisomy while the remainder will have a trisomy due to a rearrangement called a translocation or have mosaicism (two different cell lines).

Infants born with Trisomy 13 have a recognizable pattern of physical features that often allow the health professional to make the diagnosis of the syndrome. Notable physical birth defects and sometimes, anatomic changes of internal organs are present. Findings of significance include small head size (microcephaly); small eyes (microphthalmia) or sometimes absent eye or faulty development of the retina. Cleft lip or cleft palate or both occur in about 60% of children. In addition, there are a number of less medically significant physical findings that are helpful in diagnosis. These include variations of ear shape, changes on the palm of the hand, and extra fingers and toes. Changes in foot development, including changes to the heel, the so-called rocker bottom foot, can occur.

[blondie72]

About 80% of children with Trisomy 13 will have a congenital heart defect. These can include: ventricular septal defect – an opening between the lower chambers of the heart which prevents the heart from pumping blood correctly (a heart murmur is generally heard from this finding); atrial septal defect – an opening between the two upper chambers of the heart making it difficult for the heart to pump sufficient oxygen rich blood to body tissues (a heart murmur is often heard); patent ductus arteriosis – a defect involving the lack of closure of the channel that usually closes near the time of birth; dextrocardia – location of the heart on the right side of the chest; on occasion more medically serious heart defects can occur in Trisomy 13.

Synonyms:       Trisomy 13

                        Patau Syndrome

                        Trisomy 13-15

D Trisomy Syndrome

(these last two terms are usually not used at the present time)

Medical Problems

The major implications of Trisomy 13 involve a predisposition to congenital malformations (birth defects) mentioned above, an increased mortality in infancy, and a developmental disability in older children. In addition, older infants can have visual difficulties because of the findings mentioned above and a hearing loss. The increased mortality is related to difficulties with breathing due to either interrupted breathing (apnea), or problems of lung development. In addition, gastroesophageal reflux and feeding problems can occur and predispose to aspiration adding to this risk. Usually the heart defects are not serious enough to be a major health threat in the newborn period.

Important and Common Birth Defects in Trisomy 13

Omphalocele 10%
Holoprosencephaly 60% (an anatomic defect of the brain involving failure of the forebrain to divide properly)
Kidney defects 30%
Skin defects of the scalp 20%
  
Common Disorders in infants and young children with Trisomy 13

feeding difficulties
gastroesophageal reflux
slow post natal growth
apnea
seizures
hypertension
kidney defects
developmental disabilities
scoliosis
Routine follow-up care of infants with Trisomy 13

Routine child care/anticipatory guidance
Cardiac evaluation
Eye evaluation
Hearing test
Referral for Infant pre-school/ early intervention program
Ongoing Support
Scoliosis check through childhood
Routine immunization including chicken pox

[lmroswell]

I am sorry to hear about your baby girl.  There is an organization for this disorder:
Support Organization for Trisomy 18, 13 and Related Disorders
2982 South Union Street
Rochester, NY 14624-1926
1-800-716-7638
Their website is:  www.trisomy.org

Maybe your pediatrician has not had much experience in this disorder.  Is there a children's hospital in or near your area?  I would contact the above, and ask if they know who could treat and give more info in your area.  

Take care...