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Genetic Screenings

Many genetic abnormalities can be diagnosed before birth. Your health care provider may recommend genetic testing during your pregnancy if you or your partner have a family history of genetic disorders or if you have previously had a baby with a genetic abnormality.

Examples of genetic disorders that can be diagnosed before birth include

  • Cystic Fibrosis (CF)
  • Duchenne muscular dystrophy
  • hemophilia A
  • thalassemia
  • sickle cell anemia
  • polycystic kidney disease
  • Tay-Sachs disease
  • neural tube defects
  • skeletal dysplasia
  • chromosomal abnormalities

Prenatal carrier screening may include

  • Cystic Fibrosis
  • Spinal Muscular Atrophy (SMA)
  • Fragile X
  • Hemoglobinopathies/Thalassemias

Common tests on a pregnancy may include

  • ultrasound scan
  • first trimester screening test
  • alpha-fetoprotein test (AFP) or multiple marker test (2nd trimester)
  • non-invasive prenatal screening (NIPS)
  • chorionic villus sampling (CVS)
  • amniocentesis
  • percutaneous umbilical blood sampling (withdrawing a small sample of the fetal blood from the umbilical cord)

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