Down Syndrome Diagnosis at MU Health Care
Down syndrome may be diagnosed before your baby is born with tests, including:
- Noninvasive prenatal testing (NIPT): A blood test for expecting mothers that can help determine their baby’s risk of developing Down syndrome.
- Amniocentesis: Involves taking a sample of amniotic fluid from the uterus to test for Down syndrome.
- Prenatal ultrasounds: Look for features that may suggest a baby has Down syndrome.
After your child is born, they can be diagnosed with:
- A physical exam: Checks your child for features associated with Down syndrome.
- Genetic testing: Involves a blood test and collecting tissue from the inside of your child’s cheek with a small swab.
We offer expert genetic counseling and testing, which begins with a one-hour meeting with our pediatric geneticist. To diagnose Down syndrome, we’ll order a karyotype test, which looks for extra or missing chromosomes. Our team may also order a chromosomal microarray, which provides additional information to help guide diagnosis and treatment.
Down Syndrome Treatment at MU Health Care
At our dedicated clinic at the Thompson Center, we serve young people with Down syndrome from birth through age 21. In addition to supporting developmental progress, we monitor and treat medical conditions that occur more frequently in individuals with Down syndrome, including:
- Anemia (low iron)
- Congenital heart disease (heart defects)
- Early development of Alzheimer’s disease
- Epilepsy
- Hearing loss
- Leukemia (a type of blood cancer)
- Poor vision
- Sleep apnea
- Thyroid issues
At our Down syndrome clinic, you can expect to meet with several specialists on the same day. This may include:
- Developmental and behavioral pediatricians: Oversee your child’s treatment plan.
- Pediatric cardiologists: Can help manage congenital heart disease and other heart-related issues.
- Pediatric endocrinologists: Treat thyroid issues that affect kids with Down syndrome.
- Pediatric hematologists: Can manage anemia or leukemia (blood cancer).
- Pediatric ophthalmologists: Can diagnose early development of cataracts and other vision problems.
- Pediatric audiologists: Can detect hearing loss and fit hearing aids in kids.
- Pediatric sleep medicine specialists: Help treat sleep apnea that can occur with Down syndrome.
- Physical therapists: Can build your child’s muscle strength and coordination.
- Neuropsychologists and child psychiatrists: Treat kids’ mental health needs.
- Speech-language pathologists: Can improve kids’ verbal and other communication skills.
- Social workers: Provide family education and help you find resources in your community.
After your initial appointment, we will recommend regular follow-up visits with our team. During your baby’s first year, you’ll meet with us every few months, and then annually. These appointments typically last about two hours.
Why Choose MU Health Care for Down Syndrome Care
- Thompson Center for Autism and Neurodevelopment: This highly regarded center provides specialized, team-based care for children with Down syndrome and other developmental challenges.
- Specialists in house: As part of an academic health system, our team can involve other pediatric specialists as needed.
- Outreach clinics: If you cannot come to our clinic in Columbia, we also see patients at locations across central Missouri.
