Prenatal diagnosis and genetics
Through our genetics program, patients have access to many different genetic risk assessment services provided by certified genetic counselors and an obstetric-trained geneticist.
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