April 25, 2025

What is Trisomy 13? Understanding Patau Syndrome and Its Impact

What is Trisomy 13?

Each cell in our body has 46 chromosomes, organized into 23 pairs, which carry instructions for how we grow and develop.

Trisomy 13, also known as Patau syndrome, is a condition that happens when a baby is born with an extra copy of chromosome 13.

This extra chromosome affects fetal development by changing the way cells grow and function.

 


What Causes Trisomy 13?

Trisomy 13 happens by chance and occurs in about 1 out of every 10,000 newborns ¹. Most cases are not passed down through families. Instead, the events that lead to trisomy 13 occur in either the sperm or the egg that forms the fetus.

Trisomy 13 occurs when an extra copy of chromosome 13 appears in some or all of the body’s cells. The extra material interferes with normal development ¹.

 

What Are the Signs of Trisomy 13?

Babies born with trisomy 13 often have severe developmental and health challenges due to changes in brain and organ development.

The symptoms and complications of trisomy 13 vary but commonly include ¹:

  • Intellectual disability
  • Microcephaly (small head size)
  • Congenital heart defects
  • Weak muscle tone (hypotonia)
  • Skeletal abnormalities
  • Breathing difficulty or lack of breathing (apnea)
  • Deafness
  • Feeding problems
  • Seizures
  • Vision problems

Due to the serious medical challenges associated with this condition, most affected infants do not survive beyond their first year ¹. However, medical care and supportive interventions can help improve comfort and quality of life.

 

How Can You Get Tested?

HNL Lab Medicine offers a simple and safe blood test called Noninvasive Prenatal Screening (NIPS). This screening test screens for Trisomy 13 and other conditions as early as 10 weeks into pregnancy.
Some other benefits include:

  • Safe – Just a blood test, no risk to the baby
  • Accurate – Helps parents prepare for the future
  • Easy – Done at one of our Patient Service Centers, with results sent directly to your doctor

 

Ask Your Doctor About NIPS

If you are pregnant or planning to be, talk to your doctor about Noninvasive Prenatal Screening. Early testing can help you make informed choices and get the right care.

REFERENCE
¹ National Library of Medicine. (2023, September 18). Trisomy 13. National Institutes of Health. https://medlineplus.gov/ency/article/001660.htm.