When Your Baby Has a Birth Defect

If your child has a birth defect, you might be feeling overwhelmed and unprepared. But you're not alone — about 120,000 babies are born in the United States each year with birth defects, according to the Centers for Disease Control and Prevention (CDC).

It's important to know that many people and resources are available to help you and your child. 

What Are Birth Defects?

Birth defects (also called congenital anomalies) are problems present at birth. There are many different types of birth defects, and they can range from mild to severe. Defects can be structural (like a cleft lip/palate, spina bifida, or a heart defect) or functional/developmental (like Down syndrome, deafness, or a metabolic disorder like phenylketonuria).

Some defects are inherited (passed on to a baby by his/her parents), while others have environmental causes. In many cases, the cause is unknown.

Steps to Take

As the parent of a child with a birth defect, it's important for you to:

Acknowledge your emotions. You might feel shock, denial, grief, and even anger. Accept those feelings, and talk about them with your spouse/partner and other family members. You also might consider seeing a counselor. Your doctor probably can recommend a social worker or psychologist.

Get support. Talking with someone who's been through the same thing can help. Ask your doctor or a social worker if other parents in the area have children with the same condition. Consider joining a support group — ask the doctors or specialists for advice on finding a local or national support group, or search online.

Celebrate your child. Let yourself enjoy your baby the same way any new parent would — by cuddling and playing, watching for developmental milestones (even if they're different from those in children without a birth defect), and sharing your joy with family members and friends. Many parents of babies with birth defects wonder if they should send out birth announcements. This is a personal decision — the fact that your baby has a health problem doesn't mean you shouldn't be excited about the new addition to your family.

Getting Help and Information

Educate yourself. Try to learn as much as you can as soon as you can. Start by asking your doctors lots of questions. Record the answers, and if you're not satisfied — or if a doctor doesn't answer your questions thoroughly — don't be afraid to get second opinions.

Other places to get information include:

• books written for parents of children with birth defects
• national organizations such as the March of Dimes, the National Information Center for Children and Youth With Disabilities, and those representing a specific birth defect
• support groups or other parents

Keep a file with a running list of questions and the answers you find, as well as suggestions for further reading and any materials your child's doctor gives you. Keep an updated list of all health care providers and their phone numbers, as well as emergency numbers.

Explore options for paying for treatment and ongoing care for your child. There can be extra medical and therapeutic costs in caring for a child with a birth defect. Besides health insurance, other available resources include nonprofit disability organizations, private foundations, Medicaid, and state and local programs. A social worker can help you learn more about these.

Seek early intervention. Early intervention means bringing a team of experts together to assess a child's needs and create a treatment program. Early intervention services can include feeding support, assistive technology (tools, devices, and aids that make everyday tasks easier for people with disabilities), occupational therapy, physical therapy, speech therapy, nutrition services, and social work services.

Besides identifying, evaluating, and treating your child's needs, early intervention programs:

• tell you where you can get information about the disability
• help you to learn how to care for your child at home
• help you find payment options and tell you where you can find free services
• help you make important decisions about your child's care
• provide counseling

Your child's doctor or a social worker at the hospital where you gave birth should be able to connect you with the early intervention program in your area.

Work as a team. Most children with birth defects need a team of professionals to treat them. Even if your child needs to see only one specialist, that person will coordinate care with your primary care provider. Some hospitals have teams ready to deal with problems such as heart defects, cleft lip and palate, or cerebral palsy. Still, you may find yourself being both the main contact between different care providers and the coordinator of your child's appointments. As soon as possible, get to know the different team members. Make sure they know who else will be caring for your child and that you intend to play a key role.

Birth Defects in the Future

Research continues into the causes of birth defects and ways to detect, prevent, and treat them. Technology plays a big part — for example, prenatal testing has gotten better and more precise.

Safer and more accurate tests include:

• ultrasound tests and magnetic resonance imaging (MRI)
• cell-free DNA screening, which involves taking a blood sample from the mother and testing it for the genetic makeup of the baby. This test helps doctors identify any abnormal chromosomes in the baby, which can cause problems like Down syndrome and Turner syndrome.
• amniocentesis and chorionic villi sampling. Amniocentesis involves removing a small amount of amniotic fluid from around the developing fetus. This fluid can be tested to check for genetic problems. Chorionic villi sampling involves removing a small piece of the placenta to check for genetic problems.
• preconception counseling can help couples understand any risks for having a baby with a birth defect before they try to become pregnant.

None of these tests can prevent birth defects, but they give a clearer, safer, and more accurate diagnosis at an earlier stage of pregnancy — giving parents more time to seek advice and consider their options.

Genetics research is advancing quickly. The Human Genome Project has identified most of the genes in the human body, but researchers are still working on understanding what the genes do. Many gene mutations that lead to a high risk for birth defects have been identified.

Early surgery is an option in the treatment of certain birth defects — and sometimes can take place even before a baby is born. Surgeons now can operate on fetuses to repair structural defects, such as hernias of the diaphragm, spina bifida, and lung problems. These procedures can be controversial, though, because they sometimes cause premature labor. And it's still not clear whether they always can improve a child's outcome.

To get information on specific research about your child's disability, contact the national organization for that disability. Also, the March of Dimes, the National Information Center for Children and Youth With Disabilities, and the National Organization for Rare Disorders, Inc. (NORD), may have information about the latest research.