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What are birth defects?
A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.
A birth defect may affect how the body looks, works, or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. Others, like heart disease, are found using special tests. Birth defects can range from mild to severe. How a birth defect affects a child's life depends mostly on which organ or body part is involved and how severe the defect is.
What causes birth defects?
For some birth defects, researchers know the cause. But for many birth defects, the exact cause is unknown. Researchers think that most birth defects are caused by a complex mix of factors, which can include:
- Genetics. One or more genes might have a change or mutation that prevents them from working properly. For example, this happens in Fragile X syndrome. With some defects, a gene or part of the gene might be missing.
- Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing. This is what happens in Turner syndrome. In other cases, such as with Down syndrome, the child has an extra chromosome.
- Exposures to medicines, chemicals, or other toxic substances. For example, alcohol misuse can cause fetal alcohol spectrum disorders.
- Infections during pregnancy. For example, infection with Zika virus during pregnancy can cause a serious defect in the brain.
- Lack of certain nutrients. Not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects.
Who is at risk of having a baby with birth defects?
Certain factors may might increase the chances of having a baby with a birth defect, such as:
- Smoking, drinking alcohol, or taking certain "street" drugs during pregnancy
- Having certain medical conditions, such as obesity or uncontrolled diabetes, before and during pregnancy
- Taking certain medicines
- Having someone in your family with a birth defect. To learn more about your risk of having a baby with a birth defect, you can talk with a genetic counselor,
- Being an older mother, typically over the age of 34 years
How are birth defects diagnosed?
Other birth defects may not be found until after the baby is born. Providers may find them through newborn screening. Some defects, such as club foot, are obvious right away. Other times, the health care provider may not discover a defect until later in life, when the child has symptoms.
What are the treatments for birth defects?
Children with birth defects often need special care and treatments. Because the symptoms and problems caused by birth defects vary, the treatments also vary. Possible treatments may include surgery, medicines, assistive devices, physical therapy, and speech therapy.
Often, children with birth defects need a variety of services and may need to see several specialists. The primary health care provider can coordinate the special care that the child needs.
Can birth defects be prevented?
Not all birth defects can be prevented. But there are things you can do before and during pregnancy to increase your chance of having a healthy baby:
- Start prenatal care as soon as you think you might be pregnant, and see your health care provider regularly during pregnancy
- Get 400 micrograms (mcg) of folic acid every day. If possible, you should start taking it at least one month before you get pregnant.
- Don't drink alcohol, smoke, or use "street" drugs
- Talk to your health care provider about any medicines you are taking or thinking about taking. This includes prescription and over-the-counter medicines, as well as dietary or herbal supplements.
- Learn how to prevent infections during pregnancy
- If you have any medical conditions, try to get them under control before you get pregnant
Centers for Disease Control and Prevention
- Birth Defects (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
- Birth Defects (For Parents) (Nemours Foundation) Also in Spanish
- Birth Defects and Other Health Conditions (March of Dimes Birth Defects Foundation) Also in Spanish
- Congenital Abnormalities (American Academy of Pediatrics) Also in Spanish
- Facts about Birth Defects (Centers for Disease Control and Prevention) Also in Spanish
Diagnosis and Tests
- Diagnosis of Birth Defects (Centers for Disease Control and Prevention)
- How Do Health Care Providers Diagnose Birth Defects? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
- Karyotype Genetic Test (National Library of Medicine) Also in Spanish
- Newborn Screening: MedlinePlus Health Topic (National Library of Medicine) Also in Spanish
- Prenatal Testing: MedlinePlus Health Topic (National Library of Medicine) Also in Spanish
- Isotretinoin and Other Retinoids During Pregnancy (March of Dimes Birth Defects Foundation) Also in Spanish
- When Your Baby's in the NICU (Neonatal Intensive Care Unit) (Nemours Foundation) Also in Spanish
- Ambiguous Genitalia (Mayo Foundation for Medical Education and Research) Also in Spanish
- Anophthalmia and Microphthalmia (National Eye Institute)
- Bardet-Biedl Syndrome (Foundation Fighting Blindness)
- Branchiootorenal Syndrome (Genetic and Rare Diseases Information Center)
- Campomelic dysplasia (Genetic and Rare Diseases Information Center) Also in Spanish
- Clubfoot (Mayo Foundation for Medical Education and Research)
- Esophageal Atresia and Tracheoesophageal Fistula (American Academy of Family Physicians) Also in Spanish
- Facts about Gastroschisis (Centers for Disease Control and Prevention) Also in Spanish
- Facts about Hypospadias (Centers for Disease Control and Prevention) Also in Spanish
- Facts about Omphalocele (Centers for Disease Control and Prevention) Also in Spanish
- Facts about Upper and Lower Limb Reduction Defects (Centers for Disease Control and Prevention) Also in Spanish
- Genital and Urinary Tract Defects (March of Dimes Birth Defects Foundation) Also in Spanish
- Hirschsprung Disease (Nemours Foundation) Also in Spanish
- Hirschsprung Disease (National Institute of Diabetes and Digestive and Kidney Diseases)
- Klippel-Feil Syndrome (National Institute of Neurological Disorders and Stroke)
- Moebius Syndrome (National Institute of Neurological Disorders and Stroke)
- Treating Gastroschisis (Gastroschisis Silo) (Nemours Foundation)
- Undescended Testicles (For Parents) (Nemours Foundation) Also in Spanish
- What Are the Types of Birth Defects? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
Statistics and Research
- Birth Defects Data and Statistics (Centers for Disease Control and Prevention)
- Birth Defects Research and Tracking (Centers for Disease Control and Prevention)
- FastStats: Birth Defects or Congenital Anomalies (National Center for Health Statistics)
- National Birth Defects Prevention Study (NBDPS) (Centers for Disease Control and Prevention)
- ClinicalTrials.gov: Congenital Abnormalities (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Could ultrasound midwifery training increase antenatal detection of congenital anomalies in...
- Article: Hospital length of stay among children with and without congenital anomalies...
- Article: An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study...
- Birth Defects -- see more articles