Thanks to advanced diagnostic testing, most pregnant patients can find out before giving birth whether their baby will be born with Down syndrome, a genetic disorder caused by an extra copy of chromosome 21. This abnormality, also called trisomy, affects the baby’s physical and mental development – some more dramatically than others.
When you’re expecting a baby with Down syndrome, you’ll have a lot of rewarding experiences. You’ll also face some unique challenges. That’s why the Down Syndrome Clinic at Children’s Health offers specialized medical and emotional support for the children as well as their families.
In the U.S., approximately 6,000 babies are born with Down syndrome each year. Though every baby is different, parents often have similar concerns. From those first precious moments after delivery to transporting your baby home and understanding potential future health risks, here are six things to plan for as a parent of a newborn with Down syndrome.
Related reading: 3 things to know about Down syndrome and pregnancy
1. Your baby will look different from other newborns
When a baby is born with Down syndrome, our care providers can usually tell right away from some similar physical characteristics, such as eyes that slant upward, a single crease across their palm, and a large gap between their first and second toes.
I’ll talk with parents about the physical exam findings that are consistent with Down syndrome and tell them I can’t confirm the disorder without a blood test validating the extra chromosome. But I’m confident in the diagnosis and here to offer support and answer their questions.
The extra copy of chromosome 21 changes how your baby’s body will develop and grow into adulthood. People with Down syndrome often have variations on these characteristics:
- Flatter facial features
- Low muscle tone
- Shorter neck and overall height
- Smaller ears, hands, and feet
- White spots on the colored parts of their eye
2. You’ll need to handle your newborn with extra care
Because low muscle tone is a common physical trait, babies with Down syndrome tend to feel “floppy” when you pick them up and can easily slip through your hands. To avoid this, take hold of them beneath their arms and shoulders.
I also tell parents to be very careful with the baby’s head and neck; many Down syndrome babies have atlantoaxial instability (AAI), meaning their first two vertebrae are unstable. This causes their head to flop around a bit more. As the baby grows, we’ll watch for signs of nerve damage to determine whether they’ll need to have their vertebrae fused later in life.
3. Your baby might need a longer hospital stay
Babies with Down syndrome have a higher risk of certain health complications. If your baby has a heart or thyroid problem, they might need to stay in the hospital longer for further monitoring or surgical treatment in the neonatal intensive care unit (NICU).
Before you go home, we’ll use three tests to assess your baby for the most common conditions:
- Blood test to check for hypothyroidism, or an underactive thyroid, which occurs in about 10% of children and up to 50% of adults who have Down syndrome. Low thyroid hormones can lead to delayed growth, heart problems, and hearing loss.
- Complete blood count to test for polycythemia (too many red blood cells); myeloproliferative disorder (too many abnormal white blood cells), and thrombocytopenia (low platelets).
- Echocardiogram, a test that uses sound waves to check for heart conditions. About 50% of babies with Down syndrome have a heart defect. Two of these are ventricular septal defects, a hole in the lower heart chambers that can lead to lung damage, or atrioventricular canal defect, an even larger hole that can cause failure.
Related reading: 5 unexpected advantages of having a baby in the NICU
4. You may need a specialized car seat
Most car seats are made for babies with good muscle tone. Depending on how the seat is angled, it could block the airway of a baby with Down syndrome.
Before sending you home, we’ll ask you to bring in your car seat so we can test your baby’s breathing. After securing them in the seat, we affix small, painless electrodes on their chest and a pulse oximeter around their foot or wrist to monitor their breathing for an hour or two. If their breathing pauses or their heartbeat drops, we’ll provide you with a car bed, which allows your baby to safely ride flat instead of seated.
With growth and muscle development, your baby will eventually outgrow the bed and can safely sit in the car seat. However, the car bed is the best option for bringing them home and taking them back to the hospital for their first few follow-up appointments.
5. Plan for more medical appointments, sooner after birth
Because babies with Down syndrome will likely experience delayed development and multiple health conditions – from heart disease to ear infections to immune system disorders – they need more specialist appointments throughout their life. The earlier these visits start, the better.
A recent UT Southwestern study found that the earlier a developmental behavioral pediatric specialist evaluated a child with Down syndrome, the more likely they were to detect neurodevelopmental issues. When examining children with Down syndrome age 2 to 17, these specialists made a 36% increase in language disorder diagnoses, an almost 28% increase in nonspecific developmental/behavioral diagnoses, and a 13% increase in intellectual disability diagnoses.
The Down Syndrome Clinic at Children’s Health is dedicated to supporting babies with Down syndrome – and their families. We refer all new parents of babies with Down syndrome to this clinic so they can start connecting with doctors and other families right away. The clinic’s services include:
- Developmental assessments and recommendations for further testing
- Financial counseling
- Genetic counseling to discuss the risk of recurrence risk and reproductive options
- Parent-to-parent support and networking opportunities
- Physical exams and referrals for further testing
- Psychosocial assessment and social work support
- Transitional support to adult care
6. Development milestones will vary
Babies with Down syndrome typically develop at slower rates than other babies. It will probably take longer for them to sit up independently, crawl, or talk. Your child should have different expectations, and that is OK. They will meet their own milestones in their own time
Here are a few examples of the differences in developmental milestones:
|Milestone||Neurotypical baby||Down syndrome baby|
|Crawling||6-12 months||8-22 months|
|First word||1-3 years||1-4 years|
|Standing||8-17 months||1-3 years|
|Walking without help||9-18 months||1-4 years|
|Using a cup alone||9-17 months||12-32 months|
Just like with any pregnancy, you can learn and prepare to parent your baby as much as possible before delivery, but it’s impossible to know everything. Keep these things in mind as you plan for a baby with Down syndrome – and know we’re here to help you and your family be as healthy and happy as possible.