Genetic counseling

In any pregnancy, there’s a small chance that your child may be born with a birth defect or a genetic disease. Our genetic counselors assist physicians in determining whether patients are at an increased risk for having a baby with a particular disorder.

Individuals who may benefit from genetic counseling and prenatal diagnosis:

  • Will be 35 or older at the time of delivery
  • Are at increased risk for Downs Syndrome either in the first or second trimester
  • Have a previous child with a birth defect
  • Have a family history of a genetic disease, metabolic disorder, learning disability, or hemoglobinopathy
  • Have had multiple pregnancy losses, especially early miscarriages or stillbirths
  • Have a medical condition which requires taking certain medications or were exposed to a harmful chemical during pregnancy.

The genetics program works very closely with the ultrasound program to provide a wide array of prenatal screenings and diagnostic services, including:

  • First and second trimester risk assessment for chromosomal problems
  • Maternal Serum Quadruple Screen screening and interpretation
  • Ultrasound Risk Assessment for Down Syndrome
  • Chromosome analysis in a cytogenetic laboratory
  • First and second trimester genetic diagnostic procedures (CVS and amniocentesis)
  • Carrier screening genetic studies for genetic diseases like Cystic Fibrosis, Tay-Sachs, Sickle Cell Anemia, beta-Thalassemia and
  • Muscular Dystrophy
  • NIPT (Noninvasive prenatal testing)
  • Universal carrier screening
  • Invasive prenatal testing with microarray analysis
  • Whole exome sequencing when indicated
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