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December 31, 2011

BIRTH DEFECTS

Alternative Names: Congenital abnormalities
Definition:
Birth defects are the physical complications that can occur while a baby is developing during a pregnancy. More than 4,000 different types of birth defects have been identified, ranging from minor irregularities to potentially life-threatening complications. Birth defects generally develop during the first trimester of pregnancy, but they can occur at any time during pregnancy.
Birth defects are often the result of certain substances or medications that the baby is exposed to during pregnancy. For example, medications such as Topamax, Zoloft, Prozac, Depakote and Paxil have been shown to increase the risk of birth defects such as cleft palate, cleft lip, neural tube defects and potentially fatal heart defects. The use of such medications is especially dangerous during the first trimester of pregnancy, when many women may be unaware that they are pregnant.
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 common birth defects include:

  • Heart defects
  • Cleft lip/palate
  • Club foot
  • Hearing loss
  • Down syndrome
  • Neural tube defects such as spina bifida
  • Autism or other autism spectrum disorders

Symptoms:
Symptoms of birth defects can vary widely depending upon the type and severity of the 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 heart 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 using tests such as an ultrasound to 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, must be rectified through surgical procedures soon 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.
Causes:
According to the March of Dimes, the causes of more than half of all birth defects are unknown. However, a variety of genetic and environmental factors can play a role in many cases.
The use of certain medications may also increase the risk of birth defects. Certain medications such as Topamax, Zoloft, Prozac, Depakote and Paxil have been linked to serious birth defects in recent years.
Some common environmental factors that can increase the risk of birth defects include:

  • Alcohol consumption
  • Folic acid deficiency
  • Substance abuse
  • Infections
  • Sexually transmitted Infections (STIs)
  • Medications

Women who drink alcohol during pregnancy place their babies at risk of developing fetal alcohol syndrome (FAS), a condition characterized by abnormally slow development and mental retardation.
Folic acid plays an important role in the first month of fetal development. A deficiency of folic acid can result in the formation of birth defects before women may even realize they are pregnant. Consequently, experts advise that all women of child-bearing age consider taking a folic acid supplement.
Babies born to older women may be at an increased risk of developing certain birth defects such as Down syndrome.
Causes (specific drugs):
Accuretic, Eprosartan, Revlimid, Accutane, Isotretinoin, Ribasphere, Aceon, Leflunomide, Ribavirin, Acitretin, Lenalidomide, Soriatane, Aliskiren and Amlodipine, Letairis, Tekamlo, Alitretinoin, Lotensin HCT
Tenormin, Ambrisentan, Olmesartan, Amlodipine and Hydrochlorothiazide, Teveten, Arava, Panretin, Tracleer, Arthrotec, Peginterferon Alfa-2A, Tribenzor, Benazepril and Hydrochlorothiazide, Perindopril
Valganciclovir, Claravis, Pexeva, Vasotec, Copegus, Prinivil, Zestril.
by
Akshaya Srikanth
Pharm.D Candidate
Hyderabad, India

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