Improving Birth Defect Awareness

  • About one of every 1,000 U.S. children is born with Downs syndrome, also called trisomy 21, a chromosomal abnormality resulting in mental handicap. People with Downs syndrome have characteristic physical features, including slanted eyes and a flat nose on a round head.

  • Abnormalities of the palms of the hands and the soles of the feet are common in those with Down syndrome. One indicator of the birth defect is the single palmar crease, pictured here.

  • This color enhanced karyotype for a girl with Down syndrome shows the extra copy of genetic material on the 21st chromosome responsible for the birth defect.

  • Cerebral palsy is caused by damage to the brain during late pregnancy, childbirth or early childhood, and can involve brain and nervous system functions, such as movement, learning, hearing, seeing and thinking. This colored MRI shows a right frontal porencephalic cyst can be seen (dark blue) in a child with cerbral palsy. In this case, the cyst has resulted in left sided weakness.

  • Cerebral palsy affects approximately 3.3 per 1,000 children in the U.S., with prevalence varying by state. Possible causes and risk factors include cigarette smoking, exposure to dangerous chemicals, alcohol abuse, Rh incompatability, rubella infection, multiple pregnancy, jaundice, malnutrition and preterm birth.

  • Poland Syndrome is an uncommon birth defect, affecting an estimated 1 in 30,000, that results from a vascular developmental anomaly -- subclavian artery supply disruption sequence -- during the critical sixth week of gestation. It is characterized by unilateral chest wall hypoplasia, or the underdevelopment or absence of the pectoralis on one side of the body.

  • Spina bifida is a congenital defect in the development of the vertebrae that leaves a portion of the spinal cord exposed, most commonly affecting the lower back. The deformity can result in neurological symptoms, such as paralysis of the legs and urinary incontinence. Treatment may involve surgery and physiotherapy, whereas aids to walking can encourage independence.

  • Microtia is a congenital defect resulting in underdevelopment of the auricle or external ear. It affects approximately 1 in 6,000 babies, and can occur both unilaterally or bilaterally. Unilateral microtia is more common – occurring in 90% of those with microtia. Treatment involves surgical reconstruction.

  • Hydrocephalus occurs when cerebrospinal fluid (CSF) is obstructed. CSF normally moves through the brain and the spinal cord, and is soaked into the bloodstream. Too much CSF puts puts pressure on the brain, pushing it up against the skull and causing damage to brain tissue. Genetic defects, certain CNS infections, injury during or after childbirth and CNS tumors can cause hydrocephalus.

  • Oxycephaly is a congenital deformity of the skull due to early synostosis of the parietal and occipital bones with compensating growth in the region of the anterior fontanel resulting in a pointed or pyramidal skull. It is also called acrocephaly and turricephaly.

  • Situs transversus is an inherited disorder, in which all internal organs are in opposite positions to their normal ones. Here, the heart (light region, center left) is on the right, a defect called dextrocardia. The stomach and spleen are also on the right, and the liver and gall bladder (lower right) are on the left. Fewer than 1 in 10,000 people are born with this condition.

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Birth defects affect one in every 33 U.S. babies, result in an estimated $2.6 billion in hospital costs annually and are a leading cause of infant mortality.

Babies who survive and live with birth defects are at increased risk for developing many lifelong physical, cognitive, and social challenges. Learn more about birth defects with this slideshow.

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