Prenatal Screening: Trisomy 13

After you find out you’re expecting a baby, you experience a wide range of emotions. Mixed in with the happiness and excitement of bringing a new life into the world, you may begin to have some anxieties about the health of your baby and what his or her life will be like. The uncertainty that comes along with your pregnancy is completely normal, but if there was a way you could answer the questions you have about your baby’s genetic health, would you?

Chromosomal and genetic disorders can affect your baby’s physical, mental and emotional development — reducing the quality of life for both the baby and other family members. Fortunately, prenatal tests exist to detect these major disorders before birth, giving you adequate time to make the right decisions for your family.

One of the chromosomal disorder that can be detected with prenatal tests is Trisomy 13, also known as Patau Syndrome. Screening for Trisomy 13, as well as other conditions, helps better prepare you for what to expect. Before you get tests though, it helps to fully understand what the disorder is and what options you have.

What is Trisomy 13?

A rare chromosome abnormality, Trisomy 13 occurs when there are three copies of chromosome 13 instead of the usual two. This disorder occurs in about one in every 8,000–12,000 live births. Babies who have Trisomy 13 experience a wide range of severe abnormalities and unfortunately have a very short life expectancy.

Symptoms and Signs of Trisomy 13

Many of the medical problems associated with the chromosomal disorder are life threatening. Because of this, most babies born with Trisomy 13 die within days or weeks of being born. Some symptoms and signs of trisomy 13 include additional finger or toes, a cleft lip or palate, weak muscle tone, small head, missing skin on scalp and spina bifida. Fortunately, Trisomy 13 screening tests can help detect this condition early in pregnancy.

Diagnosis and Screening

In addition to being diagnosed by their physical characteristics, babies with Trisomy 13 can also be diagnosed through a small blood sample. After the sample is taken, chromosomes from within the blood can be analyzed to determine whether or not there is an extra copy of chromosome 13.

Prior to birth, babies can be screened for the disease. Screening for Trisomy 13 includes several different options like ultrasound scanning, serum biochemical tests, or Non-Invasive Prenatal Testing. The diagnostic tests are chorionic villus biopsy and amniocentesis. These tests can find a genetic abnormality that could lead to your baby developing a chromosomal disorder like Down syndrome or Patau Syndrome.

Trisomy 13 screening

Genetic Counseling

Once you have completed the Trisomy 13 screening options and have received your results, it is a good idea to discuss your next steps with a certified genetic counselor. In addition to explaining your testing options and interpreting your results, genetic counselors can help guide you through any uncharted territory you find yourself in. They can also help you understand the risks of having more children with Trisomy 13 or other chromosomal conditions.