12230 Birth Defects
Informed by recognized medical guidance
Overview
A birth defect (also called a congenital anomaly) is a difference in a baby’s body or how it works that happens before birth. It can affect how a baby looks, how their organs form, or how they grow and develop. Many birth defects are treatable, and many children grow up healthy and happy.
Key facts
- About 1 in every 33 babies is born with a birth defect.
- Many birth defects are found during pregnancy with ultrasound or screening tests.
- Not all birth defects can be prevented, but healthy habits before and during pregnancy can reduce risk.
Yes. According to the World Health Organization, about 1 in every 33 babies is born with a birth defect. That is about 8 million babies each year worldwide.
Anyone can have a baby with a birth defect, but some groups are at higher risk. For example, babies born to mothers over 35 or to mothers with certain health conditions may have a higher chance. However, most birth defects happen even when there are no known risks.
Symptoms
- Your baby or child is having trouble breathing or is turning blue
- Your baby is unresponsive, very floppy, or has a seizure
- Your baby is severely choking, cannot swallow, or is unconscious
- ⚠Your baby is feeding very poorly or not waking for feeds
- ⚠Your child has a fever of any concern, especially under 3 months old
- ⚠Your baby has jaundice (yellow skin or eyes) that is getting worse
Common symptoms
- A visible difference in the face or body, such as a cleft lip or an extra or missing finger
- Problems with internal organs, like a heart defect that may cause fast breathing or poor feeding
- Spinal cord problems, such as spina bifida, which may cause weakness or numbness in the legs
Symptoms in children
- Signs may appear as the child grows, such as delayed development, difficulty feeding, or frequent infections
- Some heart defects may cause shortness of breath or tiredness during play
- Hearing or vision problems may be noticed later when the child does not respond to sounds or follow objects
Symptoms in older adults
- Some adults born with a heart defect may develop symptoms like shortness of breath, chest pain, or irregular heartbeat
- People with certain birth defects may have long-term physical or learning challenges that need ongoing support
Causes
Main causes
- Most birth defects happen in the first 3 months of pregnancy, when the baby’s organs are forming
- The cause is often not found, and may involve a mix of genetic and environmental factors
- Some birth defects are caused by infections during pregnancy, such as rubella, or by exposure to alcohol, certain medicines, or other substances
Risk factors
- Being older than 35 when pregnant
- Having a family history of birth defects or genetic conditions
- Having poorly controlled diabetes or being obese
- Using alcohol, smoking, or recreational drugs during pregnancy
- Not getting enough folic acid before and during early pregnancy
When to see a doctor
See a doctor urgently if:
- If you are pregnant and notice a sudden change in your baby’s movement, or if you have bleeding, severe pain, or a fever, seek care right away
- If your newborn has trouble breathing, turns blue, cannot feed, or has a fever, go to the nearest emergency department
Book a routine appointment if:
- Go to all routine prenatal and newborn check-ups
- Tell your doctor or midwife about any concern you have about your baby’s development or appearance
Diagnosis
Some birth defects are found before birth through prenatal ultrasound, blood tests, or more detailed scans. After birth, a doctor’s physical examination and imaging tests like ultrasound or X-ray can help diagnose. Genetic tests may also be offered.
Tests that may be done
- Prenatal ultrasound during pregnancy
- Maternal blood screening tests
- Amniocentesis or chorionic villus sampling (CVS) for genetic testing
- Newborn physical examination and hearing screening
- Ultrasound, echocardiogram, or MRI after birth
What to expect at your appointment
If a birth defect is found, you may be referred to a specialist who will explain the condition, what it means, and what care your child needs. It can feel worrying, but many defects are treatable and most families get the help they need.
Treatment
Treatment depends on the birth defect and how much it affects your child. It can range from close monitoring to surgical repair or ongoing therapies. Many conditions are managed successfully with a team of healthcare professionals.
Self-care at home
- Keep all medical appointments and follow the care plan from your specialists
- Learn what to do if your child has a supportive device, like a feeding tube or brace
- Take care of your own wellbeing by getting enough rest, eating well, and asking for help from family and friends
Medical treatments
Some birth defects are treated with medicines to help organs work better, such as medicines that help the heart pump, or antibiotics to prevent infections. Other treatments include physical therapy, speech therapy, occupational therapy, and special education. Your healthcare team will explain which treatment your child may benefit from.
When is surgery considered?
Surgery may be needed to repair a heart defect, a cleft lip or palate, a spinal problem, or a blocked digestive tract. The timing of surgery depends on the condition and the child’s overall health.
Living with this condition
Many children with birth defects go to school, play, and enjoy full lives. Your child may need extra help at home or school, but with the right support they can thrive.
Lifestyle tips
- Keep up with routine immunisations and health check-ups
- Encourage regular physical activity that suits your child’s abilities
- Connect with other families who have children with similar conditions
- Create a safe, loving environment where your child can grow and explore
Diet and exercise
A well-balanced diet helps everyone. Some children with certain birth defects need special diets or feeding help — your specialist team will tell you if that applies. Physical activity is important, but always ask the doctor what kind and how much is safe for your child.
Mental health and emotional wellbeing
Raising a child with a birth defect can be emotionally challenging. It is common to feel worry, stress, or guilt. Talking to a counsellor, joining a support group, and taking time for yourself are very important. Your mental health matters too.
Prevention
Not all birth defects can be prevented, but you can lower your chance. If you are planning a pregnancy, take folic acid, eat a balanced diet, avoid alcohol, smoking, and recreational drugs, and manage existing health conditions like diabetes before and during pregnancy.
Vaccines
Make sure your vaccinations, like the rubella (German measles) vaccine, are up to date before getting pregnant. Ask your doctor or nurse about which vaccinations are safe during pregnancy.
Screening programmes
Prenatal screening tests can check the risk of some birth defects. These are offered by routine maternity care. Talk to your midwife or doctor about what screening tests are available and what they can tell you.
Complications
If left untreated
- Heart defects may lead to heart failure or poor growth if not repaired
- Spina bifida can cause paralysis, bladder or bowel problems, and learning difficulties
- Some untreated birth defects can increase the risk of infections or organ damage
Long-term outlook
With the right care and support, most children with birth defects live full and meaningful lives. Healthcare has improved greatly in recent years, and many conditions that were once very serious are now treatable. Your care team will help you every step of the way.
Find support
International organisations
Local organisations
- NHS ↗ · UK
External links open third-party websites. Ruqelo Health is not responsible for external content. Listing an organisation does not imply endorsement.
Always verify with your doctor
Health guidelines vary by country and region. The information in this article is based on international clinical guidelines but may not reflect the specific guidelines, medications, or practices in your country. Always discuss your health concerns with your own doctor or healthcare provider, and refer to your local national health guidelines where available.
Important notice This information is for educational purposes only. It does not replace professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider about your specific situation. If you are experiencing a medical emergency, call your local emergency services immediately.
Related conditions
Sources and guidance
This article is educational and is prepared with reference to recognized health information and clinical guidance sources where available. Specific source links may vary by topic.
Last updated: July 31, 2026
Educational note: This information is for education only and is not a diagnosis.
Use it to support, not replace, advice from a licensed clinician.
If symptoms are severe, worsening, or urgent, call your local emergency number or seek emergency care.