Birth Defects Diagnosis

Birth defects are abnormalities in the body that are present from birth. They can affect many parts and systems of the body. Birth defect causes vary, and often involve an interaction of several factors. A birth defect diagnosis can be given before birth, at birth or sometimes after birth.

A birth defect diagnosis can be frightening; however, once a diagnosis has been made, your doctor can advise you as to the best course of treatment for your child. Many children born with a baby birth defect can go on to live happy, healthy lives.

Prenatal Birth Defect Diagnosis and Treatment

Some birth defects can be diagnosed prenatally, or before the baby is born. Diagnosis can be made using tests, including:

  • Amniocentesis and chorionic villus sampling, to help diagnose genetic or chromosomal defects
  • Maternal blood tests, to detect the presence of certain birth defects
  • Ultrasound, to diagnose structural defects.

Prenatal diagnosis can allow for the best possible treatment for birth defects. Some birth defects can be treated before the baby is born. Though rare, birth defect treatments may also include prenatal surgery to correct structural abnormalities. These surgeries are becoming less and less invasive.

Some birth defects cannot be treated before birth, but early knowledge of these conditions allows parents and doctors to prepare for the necessary treatments to come. This can include both emotional and practical preparation, such as finding specialists equipped to deal with certain conditions, including a rare birth defect.

Birth Defect Diagnosis After Birth

Birth defects can also be diagnosed after birth. If no family history of birth defects exists, and parents don’t exhibit other risk factors (such as advanced maternal age), birth defects may not be detected in utero. Some birth defects, especially those that are mild and not easily visible (for example, those affecting internal structures) may not be diagnosed immediately. Though almost all pregnant women receive ultrasounds during pregnancy, a structural baby birth defect may not always be visible via ultrasound.

How to Handle a Birth Defect Diagnosis

Whether the diagnosis is made prenatally or after birth, your pediatrician can help you to decide the best course of treatment for your baby.

Baby birth defect treatment varies widely depending on the nature of the defect and its severity. If your baby is diagnosed prenatally, your doctor can help you to schedule necessary surgeries or treatments for after the birth, or to find specialists who are knowledgeable about the condition. If the diagnosis is made after birth, treatment is similar even though there has been less time for advanced preparation.


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March of Dimes. (n.d.). Birth defects quick reference fact sheet.Retrieved April 8, 2010, from:

Merck. (n.d.). Prenatal diagnostic testing.Retrieved April 8, 2010, from: