Giving birth can be one of the most exciting, and difficult, days of your life. Meeting your baby for the first time and starting your life as their parent are moments you will never forget. But for some babies, birth is also the beginning of a medically complex situation.

Unexpected developmental or structural issues, or birth defects, may be discovered in the initial moments or days after your baby is born. These conditions may require emergency action from your medical team.

When an unexpected condition is discovered, you might feel scared, confused, angry, or emotional. You might feel guilty and wonder why this is happening, and whether there’s anything you could have done to better prepare for your baby’s medical needs.

Just know that you are not to blame for this situation, and you are not alone. Birth defects affect 1 in 33 babies born each year in the United States. Some of these are found through prenatal testing, but many can’t be detected until after birth.

Let’s take a look at the basics of birth defects, the reasons why some go undetected, and how you can prepare for what comes next.

A birth defect is an abnormality that is present when your baby is born. Some of them are cosmetic, while others affect a baby’s vital organs. These issues can require no medical attention at all, or can be a medical emergency.

Many things can increase a baby’s risk of having a birth defect, including:

  • environmental factors
  • family history
  • exposure to chemicals or substances
  • nutrition
  • chromosomal abnormalities
  • certain medications

However, not every baby born to a parent with a risk factor will develop a birth defect. Likewise, a person with no risk factors isn’t guaranteed to have a baby without any birth defects.

Having a baby with a birth defect does not mean you did something wrong during your pregnancy or that you could have acted to prevent it somehow. We still don’t know what causes some of these issues.

There are two main types of birth defects: structural and developmental. Both can sometimes go undetected before birth.

Structural birth defects

“Structural birth defects” refer to the way the baby’s body and organs are formed.

Some of the most common structural issues diagnosed after birth include:

Developmental and functional birth defects

Developmental and functional birth defects are related to the way the body functions, not necessarily the way it looks.

Functional birth defects that may be undetected until at or after birth include:

  • Degenerative disorders: These disorders get worse as they progress and may not be evident at birth. Degenerative disorders include things like muscular dystrophy and Rett syndrome.
  • Nervous system or brain: Changes in the nervous system and brain include things like seizures, developmental and intellectual disabilities, speech or language difficulties, and movement trouble. Birth defects of the nervous system include Down syndrome and fragile X syndrome.
  • Metabolic disorders: Metabolic disorders involve various chemical reactions and functions in the body. Common metabolic disorders include phenylketonuria (PKU), Tay-Sachs disease, and hypothyroidism.
  • Sensory: Sensory difficulties are things like blindness or hearing loss and deafness.

Many birth defects may affect both structures and functions in a baby’s body and may fall into both categories.

Finding support if your baby has a birth defect

These organizations can help connect you with other parents who have had a child born with a birth defect:

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Birth defects are often found during pregnancy via a series of standard prenatal screening tests. These tests include:

Blood work

Blood tests can be very accurate, but false negatives do occur. This can cause some genetic abnormalities and birth defects to get missed at first. Blood tests performed during pregnancy include:

  • maternal blood screen in the first trimester
  • maternal serum screen in the second trimester

Most prenatal blood work doesn’t test for every possible genetic abnormality, just the most common ones. If you have a family history of a rare genetic condition, you may be able to request that your doctor check for that condition, too.


Your doctor may use ultrasounds to see if your baby’s heart is pumping properly and that the skull is within the expected size and shape parameters.

But today’s ultrasounds, though quite advanced, can’t always detect congenital abnormalities. In low risk pregnancies, for example, an ultrasound may simply take a still image of your baby’s heart that shows its size and shape.

Ultrasound examinations in pregnancy may include:

  • 10-week ultrasound: Also called a nuchal translucency screening (NT scan), this scan is done in the first trimester (weeks 10 to 14). It tests for the risk of Down syndrome and several other chromosomal abnormalities.
  • Level 2 ultrasounds: Also known as anatomy scans, these scans allow for a comprehensive check of your baby’s limbs, heart, skull, and other organs to see if things are developing on schedule.
  • Anatomy ultrasound: Usually completed at around 18 to 20 weeks, this ultrasound checks the size of the baby and looks for birth defects or other problems.
  • Fetal echocardiograms: Fetal echocardiograms that record the heart pumping, as well as its efficiency, are now recommended by some experts as a better tool for screening for heart defects as well as diagnosing them.

Other diagnostic tests

  • Chorionic villus sampling (CVS): CVS is performed in the first trimester. It checks a small sample of part of the placenta called chorionic villi for chromosomal and genetic conditions.
  • Amniocentesis: Performed around week 15, this test uses a sample of amniotic fluid to check for chromosomal and genetic conditions.

Even with all of this screening, it’s possible that a birth defect will not be detected before birth.

The symptoms of a birth defect will vary widely depending on the condition the baby has. Symptoms may include:

  • a visually detectable abnormality, such as an unusually shaped head, cleft palate, or club foot
  • difficulties during vaginal delivery
  • low blood pressure after birth
  • gray or blue coloring shortly after birth
  • difficulty latching during breastfeeding
  • slow or inefficient weight gain

During your hospital stay, your doctor will take a blood sample directly from your baby to check for genetic abnormalities and other issues.

Sometimes the result of these blood tests will indicate that further testing is needed.

The treatment for your baby is going to depend on what type of condition or issue your baby has.

Some unexpected issues need to be treated immediately, especially if the baby’s vital organs are affected. This may involve an emergency surgical procedure, followed by time in the neonatal intensive care unit (NICU).

Babies with conditions affecting the brain, skull, spine, or heart may need these types of surgeries and interventions. Heart defects that are considered “mild” may never require surgery and can sometimes resolve on their own.

Some issues are found later if an infant doesn’t meet certain developmental milestones or weight recommendations. In these cases, your baby’s doctor may prescribe physical therapy, medication, supplements, or other treatments.

The outlook for babies born with developmental or structural issues varies widely depending on which issue is present.

A birth defect may severely affect your child’s health, or it can eventually be a footnote in the story of a long and healthy life.

Heart defects

Babies with congenital heart defects may need ongoing health support as they grow older. About 1 in 4 babies born with a heart defect need to have surgery within the first year of life, according to the Centers for Disease Control and Prevention (CDC). The presence of mild heart defects that do not require surgery is increasing, notes the CDC.

Children with heart defects are more likely to develop other health conditions or have some developmental delays. The rates of autism, asthma, and intellectual disabilities are higher in children born with heart defects.

When treated appropriately, many children can have a normal life expectancy after being born with a congenital heart defect.

Craniofacial abnormalities

Children born with a structural issue affecting their face or skull, such as cleft palate or craniosynostosis, often need corrective surgery to address the issue.

These surgeries might need to be performed shortly after birth, or they can be delayed until your pediatrician recommends it.

The outlook for babies born with these types of abnormalities can be excellent with proper care, monitoring, and treatment.

Developmental and intellectual disabilities

The outlook for developmental and intellectual disabilities varies very widely. Support from you and treatment from medical caregivers can mean the outlook is very good for babies born with these types of birth defects.

What will a birth defect mean for my baby?

Some birth defects can have serious and long lasting effects on your baby’s health.

In some cases, corrective surgery may be required quickly to repair your baby’s heart or skull. In other cases, you may need to wait and see how your baby develops and whether medical intervention is required later on.

Who is at risk of undiagnosed birth defects?

Birth defects can occur in any pregnancy, but certain things can increase the risk:

  • smoking during pregnancy
  • being exposed to strong chemicals during pregnancy
  • not getting enough folic acid during pregnancy
  • contracting certain infections during pregnancy

It’s important to understand that many birth defects do not have a direct cause.

How are birth defects treated?

Birth defect treatment varies widely according to the specific issue your baby is born with. Some birth defects need to be treated immediately with surgery. Others involve a long-term treatment plan. And others resolve on their own as your baby develops.

Parents of children with birth defects sometimes say they feel out of the loop as doctors discuss their child’s needs in highly specialized jargon.

You may see your baby in a situation that is difficult for you to witness. Babies born with birth defects are sometimes hooked up to medical equipment, such as an incubator, to help them breathe, or to an IV to get medication and fluids.

Keep in mind that when you see your baby in these situations, you may need to take a minute to decompress or process with a family member or your partner.

It’s OK to have strong feelings when you see your baby in a medically complicated position. It may help to remind yourself that these steps are being taken to help your baby have the best chance for a healthy outcome.

You may feel like things aren’t being explained to you in a way that you can understand while your baby is being taken care of. Things may happen quickly, without a lot of time for discussion or consultation.

If you’re at the hospital, you can ask for a patient advocate to help you during these times. You can also advocate for your child by asking staff and doctors for more information or to explain things to you in a different way. Writing things down or having another person in the room who can help you recall what was said can be helpful.

If you’ve never taken care of a person with a serious medical condition before, it can be intimidating to even consider taking your baby home. Take a lot of notes and ask about the support that is available before you leave the hospital.

It may be hard to fathom keeping track of medications and special needs that your baby has, so don’t be afraid to ask for help from the beginning. But don’t underestimate yourself, either: You are capable of being the parent your child needs.

An unexpected birth defect can throw you for a loop after delivering your baby. Health challenges can be particularly hard emotionally when you’re not expecting them.

There are a wide array of possibilities when it comes to birth defects, and outlook will vary on a case-by-case basis. Many babies will go on to thrive even after being born with an unexpected birth defect.