Tests and Screenings
If a baby is diagnosed prenatally with a genetic condition, the genetic counseling team works closely with the family to make sure everyone has a good understanding of the diagnosis, including its cause, its symptoms and what the likelihood that other family members or future children might have the same condition.
Screening Test Options
First trimester Screening
This screening is a combination of ultrasound measurements and biochemical markers in the mother’s blood to determine the risk for 3 common chromosome conditions: Down syndrome, trisomy 18 and trisomy 13. This screening also provides additional information about your personal risk to develop early onset pre-eclampsia
Noninvasive Prenatal Testing (NIPT)
This screening test analyzes pieces of chromosomes coming from the placenta and circulating in the mother’s blood to determine the risk for common chromosome conditions, including Down syndrome, trisomy 18, trisomy 13, sex chromosomes and select microdeletion syndromes.
Carrier Screening
A carrier screening looks at your and your partner’s DNA to see if you are at risk to have a child with a recessive disease. You and your partner are tested for over 100 conditions which may improve with early intervention and treatment, including intellectual disabilities, shortened life expectancy and conditions with limited or no treatment options.
Diagnostic Testing Options
Chorionic villus sampling (CVS)
This diagnostic test is performed in the first trimester and involves testing a piece of the placenta to diagnose chromosome and/or genetic abnormalities.
Amniocentesis
This test is performed in the second and third trimesters and involves testing the amniotic fluid to diagnose chromosome and/or genetic abnormalities.
Additional testing may be requested by you or your doctor. For more information or to make an appointment, please call 410-328-3865.
