March is Trisomy Awareness Month
About 1 in every 700 babies is born with Trisomy
Down syndrome is one of the most common manifestations of Trisomy, and Down syndrome is still the most common chromosomal disorder in babies.
What is Trisomy?
Trisomy is a genetic condition that leads to unique physical features and developmental delays. Trisomy can result in a full-term baby, however, it most often causes a miscarriage during the first three months of pregnancy. You get trisomy when you have an extra copy of a chromosome, which carries your DNA. Most bodies have 46 chromosomes, however, bodies with trisomy have 47 total chromosomes.
Trisomy is detected usually through a prenatal ultrasound. Your healthcare provider will look for signs of trisomy, including excess amniotic fluid, a small placenta, a less active or small baby, and only one artery in your umbilical cord. Once your baby is born, symptoms can include small stature, slanted eyes, cleft palate, developmental delays, and intellectual disabilities.
Facts about Trisomy
If you’re pregnant or plan on becoming pregnant, Trisomy is a condition that you should be aware of and screen for. Prepare yourself by learning as much as you can, and ask your doctor about screening for Trisomy.
There are different types of Trisomy
The different types of trisomy lead to different diseases. Trisomy 13 is known as Patau syndrome, Trisomy 18 is called Edward syndrome, and Trisomy 21 is called Down syndrome
Trisomy diagnosis depends on which chromosome has a third copy
Trisomy is diagnosed by your healthcare provider identifying which chromosome has a third copy. Since each chromosome has a different role in your body’s blueprint, where the third copy attaches can affect what genetic condition your baby will have.
Life expectancy with Trisomy
In the 1940s, babies with Trisomy had a life expectancy of only 12 years. 5-10% of babies with trisomy live past 1 year.
Prevention for Trisomy
There is no prevention for Trisomy conditions because they occur spontaneously, and your risk of having a child with a trisomy condition increases after age 35.
Trisomy can be partial
Full trisomy occurs only when the entire chromosome has been copied. If only a part has been reproduced, it is partial Trisomy.
Screening for Trisomy
It is possible to screen for risks of the baby developing trisomies 21, 18, 13, X, and Y using Non-Invasive Prenatal Testing or NIPT early on in the pregnancy.
Living with Edwards Syndrome (Trisomy 18)
This video by Special Books by Special Kids features Harper who was diagnosed with Edwards syndrome before birth and deemed “incompatible with life”. Her mom’s only goal was to look her daughter in the eyes and say “I love you” before she passed away. Now five years old, Harper is surprising everyone while her parents treasure every moment. Watch the video to learn her story.