Friday, July 11, 2025

Trisomy

 Trisomy is a genetic condition where a person has three copies of a chromosome instead of the normal two. Humans usually have 23 pairs of chromosomes (46 in total), but in trisomy, one of those pairs has an extra chromosome—making it 47 total.

For example:

  • Trisomy 21 is also called Down syndrome, where there are three copies of chromosome 21.

Trisomy can cause physical, developmental, and health problems, depending on which chromosome is affected. 


T21 stands for Trisomy 21, which is the medical term for Down syndrome.

What is Trisomy 21?

It is a genetic condition where a person has three copies of chromosome 21 instead of the usual two. This extra genetic material affects how the body and brain develop.

Key Features of T21 (Down Syndrome):

  • Intellectual disability (mild to moderate)

  • Distinct facial features (flat face, almond-shaped eyes, small ears)

  • Low muscle tone (hypotonia) in infancy

  • Developmental delays

  • Higher risk of:

    • Heart defects

    • Hearing and vision problems

    • Thyroid issues

    • Leukemia (increased risk in children)

Causes:

  • It usually happens by chance during the formation of reproductive cells.

  • Most cases are not inherited.

Diagnosis:

  • Can be detected before birth with screening and diagnostic tests (like NIPT, amniocentesis).

  • Confirmed after birth with a karyotype test showing 47 chromosomes (an extra chromosome 21).

Support:

People with T21 can live long and fulfilling lives with proper medical care, early therapy, and family support.


Moderate to deep procedural sedation for  Echo


pre procedure plan of care -

  1. assess for barrier of learning 
  2. access for abuse or neglect 
  3. access for pain pre procedure check to be completed 
  4. patient education plan of care 
  5. patient education discharge care 
  6. prepare appropriately for procedure 
  7. prevent fall safety precaution

intra procedure plan of care 


  1. vital sign 
  2. respiratory
  3.  oxygen requirement observe 
  4. observe skin integrity 
  5. infection prevention ( immunocompromised)

post procedure plan of  care 

  1. access pain
  2. oxygenation status maintain
  3. hemostasis to be assess
  4. maintain treated 
  5. post sedation care