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Genomic Fact Sheets

  • BRCA1 & BRCA2 How common are BRCA1 and BRCA2 mutations? In the general population, between one in 300 and one in 800 individuals carry a BRCA1 or 2 or mutation.1 For individuals of Ashkenazi Jewish ancestry, one in 40 individuals carry a BRCA1 or 2 mutation. What percentage of breast and ovarian cancers are caused by BRCA1 or BRCA2 mutations? 5 percent-10 percent of all breast cancer. Up to
  • Lynch Syndrome for Health Care Professionals What is Lynch syndrome? Lynch syndrome is an inherited genetic condition that significantly raises a person's risk of developing cancer. The cancer is most frequently in the digestive tract, particularly the colon, rectum and stomach, but also can be present in the liver, gallbladder ducts, urinary tract, brain, skin and prostate. Women have a higher risk of developing
  • Lynch Syndrome for the General Public What is Lynch syndrome? Lynch syndrome is an inherited genetic condition that significantly raises a person's risk of developing cancer. The cancer is most frequently in the colon, but it could also be in the stomach, small intestine, liver, gallbladder ducts, urinary tract, brain, skin, and prostate. Women have higher risk of endometrial (lining of the uterus) or ovarian
  • NIPT Information for Obstetric Care Providers Noninvasive prenatal testing (NIPT) is a screening method for detecting chromosome abnormalities in a fetus. NIPT screens for Down syndrome (trisomy 21), as well as the less common chromosome abnormalities, Patau syndrome (trisomy 13) and Edwards syndrome (trisomy 18)
  • NIPT Information for Pregnant People Noninvasive prenatal testing (NIPT) is a blood screening test for pregnant people. It helps to find some chromosome abnormalities in the baby, such as Down syndrome. NIPT looks at the pregnant person’s blood for DNA that has shed off the placenta. This test can also be called noninvasive prenatal screening (NIPS) or cell-free DNA screening (cfDNA)
  • Prenatal Diagnostic Tests The American College of Obstetricians and Gynecologists (ACOG) recommends the option of diagnostic testing for all pregnant women regardless of age. Diagnostic testing can provide valuable information about a baby's health, including whether or not a baby is affected with a chromosome abnormality like Down syndrome. However, unlike prenatal screening tests which pose no risk
  • Prenatal Screening Tests The American College of Obstetricians and Gynecologists (ACOG) recommends the option of screening for all pregnant women regardless of age. Prenatal testing can provide valuable information about a baby's health. Screening can help to identify pregnancies at an increased risk for some birth defects and chromosome abnormalities. Screening poses no risk to the baby. When is the