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Down Syndrome and What that Means for Your Baby

by Kathryn Walsh of "Mamapedia"
Photo by: iStock

Babies born with Down syndrome can go on to live happy and fulfilling lives, but it’s still a daunting diagnosis to receive. We talked with Jennifer Weida, MD, a maternal fetal medicine specialist in the Indiana University Health system, about what Down syndrome means for your family.

An Overview

“Down syndrome occurs when a fetus has an ‘extra’ chromosome 21,” Dr. Weida explains. Most people have two of chromosome 21, but a person with Down syndrome has three. “The condition occurs when the mother’s egg does not properly divide as it prepares for fertilization,” she says. Nothing a mother does can cause or prevent Down syndrome, and Dr. Weida calls it a “sporadic event” that most commonly occurs without family history of the condition.

About one in 700 babies is born with Down syndrome, according to the Centers for Disease Control and Prevention. The older a mother is, the more likely she is to have a baby with the condition.


“Parents may find out their child has Down syndrome during or after pregnancy,” Dr. Weida says. “During pregnancy, mothers have the opportunity to undergo screening for Down syndrome with either a blood test or ultrasound.”

But, she cautions, screening won’t tell you definitively whether your baby has the condition.
“A screen for Down syndrome can only predict if the pregnancy is at high or low risk for being affected with Down syndrome; not whether the pregnancy is actually affected.” If screening reveals an elevated risk, parents may opt to get a concrete diagnosis using more invasive testing methods.

Your baby will also be evaluated for the condition once born. “If the pediatrician identifies features of Down syndrome, a blood sample can be drawn on the infant to test for the presence of an extra chromosome 21,” Dr. Weida says.

Your Baby’s Outlook

While many babies born with Down syndrome go on to live happy and healthy lives, the condition is often accompanied by a variety of birth defects, says Dr. Weida. Heart and gastrointestinal defects are common. “Individuals with Down syndrome have some degree of developmental or intellectual delay and may also have associated vision or hearing abnormalities, hormonal dysfunction, blood or immunologic disorders and psychiatric disease,” she says.

And while the prognosis for babies born with this condition wasn’t always good, it has drastically improved in recent years. “The average life expectancy for an individual with Down syndrome is now approximately 57 years of age,” says Dr. Weida.

Looking Ahead

Immediately after receiving a diagnosis of Down syndrome, it’s natural to feel scared for your child and yourself. But you have lots of people to turn to for help.

First, your baby will be evaluated for other birth defects and conditions. “Families may be referred to a subspecialist if a birth defect is identified,” says Dr. Weida. “For example, a pediatric cardiologist will be consulted if a heart defect is detected.” You’ll also want to talk to your pediatrician about developmental delays and how you can work together to minimize them.

Getting support from other families is also key. Connecting with parents who are also raising children with Down syndrome gives you a place to ask questions, learn about resources and celebrate milestones. Contacting the National Down Syndrome Society is a great place to start.

Kathryn Walsh is a freelance writer specializing in parenting and travel topics. Her work has appeared on,, and

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