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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. To find others, like heart defects, doctors use special tests. Birth defects can vary from mild to severe. Some result from exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome. Infections during pregnancy can also result in birth defects. For most birth defects, the cause is unknown.

Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects.

Babies with birth defects may need surgery or other medical treatments. Today, doctors can diagnose many birth defects in the womb. This enables them to treat or even correct some problems before the baby is born.

Centers for Disease Control and Prevention

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Common Causes of Birth Defects

The following are the most common causes of Birth Defects:
  • drinking alcohol, smoking, or taking street drugs during pregnancy
  • being obese
  • having uncontrolled diabetes before and during pregnancy
  • taking certain medications like isotretinoin
  • family history
  • being an older mother such that over the age of 34 years

Risk Factors for Birth Defects

The following factors may increase the likelihood of Birth Defects:
  • maternal age at conception
  • proportion of unplanned pregnancies
  • no antenatal care
  • poor medical condition of mother
  • consanguineous marriages
  • genetic factors
  • maternal nutritional lacking
  • exposures to teratogens before and after conception

Prevention of Birth Defects

No, it is not possible to prevent Birth Defects.
  • mutations in multiple genes such as MTHFR gene, etc

Occurrence of Birth Defects

Number of Cases

The following are the number of Birth Defects cases seen each year worldwide:
  • Common between 1 - 10 Million cases

Common Age Group

Birth Defects most commonly occurs in the following age group:
  • At birth

Common Gender

Birth Defects can occur in any gender.

Lab Tests and Procedures for Diagnosis of Birth Defects

The following lab tests and procedures are used to detect Birth Defects:
  • Prenatal testing: To detect birth defects in baby during pregnancy
  • Diagnostic tests: To diagnose pregnancy risks, birth defects in babies during pregnancy and serious diseases in women during pregnancy
  • High resolution Ultrasound: To get more details of possible birth defects in the baby
  • Chorionic Villus Sampling: To diagnose genetic or chromosomal disorders in the baby
  • Amniocentesis: To measure baby’s protein levels to diagnose birth defects

Doctor for Diagnosis of Birth Defects

Patients should visit the following specialists if they have symptoms of Birth Defects:
  • Primary care provider
  • Birth defects specialist
  • Geneticist

Complications of Birth Defects if untreated

Yes, Birth Defects causes complications if it is not treated. Below is the list of complications and problems that may arise if Birth Defects is left untreated:
  • can be fatal
  • lifelong disabilities

Procedures for Treatment of Birth Defects

The following procedures are used to treat Birth Defects:
  • Gene therapy: mutated or missing gene is replaced by a normal version of the gene
  • Catheter Procedures: To repair heart defects
  • Surgery: To repair heart defects

Patient Support for Treatment of Birth Defects

The following actions may help Birth Defects patients:
  • Support groups: Join support group or talk to other parents that are dealing with same conditions like your child's
  • Emotional difficulties: Support your child who may feel insecure about his or her developmental difficulties

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Birth Defects.
Brain Malformations
Chiari Malformation
Cleft Lip and Palate
Congenital Heart Defects
Craniofacial Abnormalities
Fetal Alcohol Spectrum Disorders
Fetal Health and Development
Genetic Brain Disorders
Genetic Disorders
Genetic Testing
Neural Tube Defects
Prenatal Testing

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