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Birth Defects

Birth-Defects
Definition: 

Birth defects are physical abnormalities in infants at birth. Over 4,000 different types of birth defects have been identified, and they range from minor irregularities to potentially life-threatening complications. They generally develop during the first trimester; however they can arise at any time during pregnancy.

According to the Centers for Disease Control and Prevention, approximately one in every 33 infants is born with a birth defect. Some of the most commonly experienced birth defects include:

  • Heart defects
  • Cleft lip/palate
  • Down syndrome
  • Spina bifida
Symptoms: 

Symptoms of birth defects can vary widely depending upon the type and severity of birth defect experienced. Birth defects can be structural, in which the physical form of a body part is abnormal, or they can be functional, in which a body part or system does not operate properly.

Some examples and symptoms of structural birth defects include:

  • Abnormal limbs
  • Missing or misshaped valves
  • Brain and spinal cord damage
  • Heart deformities

Some examples and symptoms of functional birth defects include:

  • Mental retardation
  • Speech disorders
  • Abnormal or uncontrollable body movements
  • Blindness and other vision problems
  • Metabolic disorders
  • Muscular dystrophy
Exams/Testing: 

Advances in prenatal screening have enabled doctors to detect some birth defects early on during pregnancy. The most common prenatal tests include:

  • Ultrasound – An ultrasound uses sound waves to produce images of the fetus that can help detect heart defects, spina bifida and other structural birth defects

Other tests may be performed in instances where an increased risk of birth defects is present. However, such tests may carry a small risk of miscarriage:

  • Chorionic Villus Sampling (CVS) – CVS is a procedure generally performed during the 10th to 12th week of pregnancy. In this test a sample of tissue from the developing placenta is obtained and examined for genetic irregularities.
  • Amniocentesis – Amniocentesis is a procedure generally performed during the 15th to 20th week of pregnancy. A sample of amniotic fluid, which is the protective fluid surrounding the fetus, is obtained and analyzed for chromosomal abnormalities.

After birth, infants are generally tested for defects that may require immediate treatment. An Apgar test is generally conducted, which includes an examination of the baby’s heart rate, reflexes, breathing and other factors. A blood sample will also be collected and tested for certain defects such as hypothyroidism and phenylketonuria (PKU).

Outlook/Prognosis: 

Birth defects can range from mild abnormalities to potentially fatal conditions.

Early detection now allows some birth defects to be treated before birth. Other birth defects, such as cleft lip, may be rectified through surgical procedures after birth.

The effects of some birth defects such as cerebral palsy may be alleviated through therapy and assistive technology. Some birth defects may pose lifelong physical or mental disabilities that inhibit a baby’s future potential to live independently as an adult.

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