Trisomy 13, 16, 18

What is the prognosis for someone with Trisomy 16?

- 80% of children ages 6-12 are able to attend mainstream classes - Studies in physical health, psychological health, and quality of life show that a majority of these kids scored between 80 and 90 in a 100 point scale of optimal quality of life

What symptoms come with Trisomy 13?

- Intellectual disabilities - Small/poorly developed eyes - Extra fingers and/or toes - Small head - Small loser jaw - Low set ears - Cleft lip - Skeletal limb abnormalities

With Trisomy 13 and 18, what are some outcomes?

- Lack of verbal communication, but are able to create meaningful interactions with others - Can make choices, have preferences, and enjoy themselves - Social emotional development is evident

What is the prognosis for those with Trisomy 13?

- Less than 20% live past the first month of life - Those who do survive infancy suffer from severe developmental delays and mental disabilities

What symptoms come with Trisomy 16?

- Poor fetal development during pregnancy - Born Small - Unusual facial features - Musculoskeletal anomalies

What are some overall common symptoms?

- Small head - Small mouth/jaw - Low set ears - Eye problems - Cleft lip or palate - Clenched fist with difficulty extending fingers - Club feet - Heart defects - Increased blood pressure - Kidney problems - Seizures

What symptoms come with Trisomy 18?

- Thin and frail - Feeding problems

What are some treatments for Trisomy 18?

- Treatment of kidney and heart defects - Treatment of digestive issues - Treatment of craniofacial abnormalities Treatments are only if child survives

What are the 2 methods of diagnosis for Trisomy 13?

1) Chorionic Villus Sampling 2) Amniocentesis

How can Trisomy 16 be diagnosed?

1) Collecting tissue after miscarriage to detect chromosomal abnormalities 2) Chorionic Villus Sampling 3) Amniocentesis

At what age can Trisomy 13 be seen?

12 weeks into pregnancy

What causes Trisomy 16?

An error occurs in the mother's chromosome separation, leaving an extra 16th chromosome in cells

When are motor milestones accomplished by those with Trisomy 13 and 18?

By the first decade

What is Chorionic Villus Sampling?

Catheter or needle is used to biopsy cells from the placenta

Describe palliative care

Comforting care to those who are terminal that relieves symptoms, physical, and mental

What is a must for Trisomy 13, 16, 18?

Early intervention and schooling!!

Trisomy 13 may use OT for what in their few days of living?

Feeding interventions due to cleft lip (alternative nipple to make breastfeeding easier)

What is the most common variation of Trisomy 13, 16, 18?

Full Trisomy 13, 16, 18 (95% of cases)

Describe Mosaic Trisomy

Having a third copy of chromosome 13, 16, 18 in SOME cells, not all

Describe Full Trisomy

Having a third copy of chromosome 13, 16, 18 in all cells

What is amniocentesis?

Hollow needle inserted into uterus to take a sample of amniotic fluid

How is the cognitive ability of a child with Trisomy 13, 16, 18?

Low, but can learn and develop as they grow and get older

What is the second most common variation of Trisomy 13, 16, 18?

Mosaic Trisomy (5% of cases)

Are there any treatments for Trisomy 16?

No, due to miscarriage - Most are not carried to term - If carried to term, end up stillborn or passing within first few hours of life

What causes Trisomy 18?

Occurs spontaneously and comes from chromosomes failing to separate properly, therefore leaving an extra 18th chromosome in cells

Describe Partial Trisomy

PART of a third copy of chromosome 13, 16, 18 in some cells

What is the most rare variation of Trisomy 13, 16, 18?

Partial Trisomy (<1% of cases)

What is another name for Trisomy 13?

Patau Syndrome

What methods of diagnosis are used for Trisomy 18?

Pregnancies that are at risk can go through screenings to identify such as: 1) Non-invasive prenatal testing 2) Ultrasounds Can also be confirmed after birth through: 1) Blood tests 2) Chorionic Villus Sampling 3) Amniocentesis

When can Trisomy 16 and 18 be seen?

Prenatal AKA antenatal

What causes Trisomy 13?

Random events during egg or sperm formation from healthy parents prior to conception

What is one major delay of Trisomy 13, 16, 18?

Speech delays

What is the learning situation for children with Trisomy 13, 16, 18?

They learn slowly but can also attain some developmental milestones

What does Trisomy 13 mean?

Third copy of the 13th chromosome in all cells (instead of regular 2)

What does Trisomy 16 mean?

Third copy of the 16th chromosome in all cells

What does Trisomy 18 mean?

Third copy of the 18th chromosome in all cells

Which Trisomy has a survival rate of 7-10 days and less than 10% live past one year?

Trisomy 13

Which Trisomy is linked to higher risk of cancer?

Trisomy 13

Which Trisomy is the major cause of miscarriage?

Trisomy 16

Can those that do live into adolescence enjoy life?

YES