Prenatal Diagnosis and Genetics Program
A number of different genetic risk assessment services are made available through the genetics program. These services take advantage of the training and skills of both certified genetic counselors and an obstetric-trained geneticist. Importantly, services provided by this genetic risk assessment group remain second to none for breadth and depth of services serving a wide referral base.
In any pregnancy, there is a small chance for having a child with a birth defect or possibly a genetic disease. Our genetic counselors can assist physicians in determining whether patients are at an increased risk for having a baby with a particular disorder.
Women who may benefit from genetic counseling and prenatal diagnosis include those who:
- Will be 35 or older at the time of delivery
- Have an abnormal screening test and found to be 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 testing 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
- Pre-implantation genetic diagnosis when there is a known genetic disease in the family