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The Leading Edge Of Medical Innovation: New Prenatal Genetic Tests Use Mom's Blood To Learn About Her Baby
Date:12/13/2012

cedures assist health care providers in prenatal diagnosis. They are:

  • Amniocentesis: a procedure that collects some of the amniotic fluid that surrounds the fetus for analysis. This is a diagnostic test.
  • Chorionic villus sampling (CVS): a procedure that obtains tissue from around the placenta. This is a diagnostic test.
  • Maternal blood tests: screening tests that use mother's blood to help identify problems with the fetal brain, spinal cord, intestines or chromosomes. These tests include alpha-fetoprotein (AFP), hCG and other hormones. As with all forms of screening, abnormal results require follow-up testing to make a diagnosis.
  • Ultrasound: a scan using sound waves to visualize the fetus.
    Cell-free DNA methods of screening are a new option.

"Prenatal diagnosis gives parents important information about the health of their baby and the status of their pregnancy. More often than not, prenatal screening reassures parents that their baby is healthy and that these disorders are not present," says Joe Leigh Simpson, MD, March of Dimes senior vice president for Research and Global Programs.  "For a high-risk infant, prenatal diagnosis gives parents and health care providers options that may include planning for a health problem or arranging for delivery in a medically appropriate setting. The first step toward treating these problems is diagnosing them, and cell-free DNA methods, without the need for invasive measures, are welcomed."

Dr. Bianchi says, "This cell-free DNA blood test also has the potential to push beyond the boundaries of what is currently being screened for."

"The introduction of new prenatal screening tests that evaluate cell-free nucleic acids in maternal blood represents a profound improvement in our ability to identify women at increased risk for carrying fetuses with the most common chromosome abnormalities," Dr. Shulman says. "Still, this tec
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SOURCE March of Dimes
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