GENETIC COUNSELING
Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counselors work as members of a health care team, providing information and support to families. Indications for referral include: women over 35 years of age at delivery, a positive screening test result, ultrasound findings, a personal or family history of birth defects or genetic disorders, and ethnicity based carrier screening. Genetic counselors review family and medical histories, provide information about genetic disorders, discuss risks of recurrence, and review available options with the family. |
SCREENING AND TESTING OPTIONS
First trimester screening: This screen shows if you are at an increased risk of having a baby with Down syndrome or trisomy 18. It requires a blood sample and a special ultrasound measurement performed in the first trimester. If the result is screen positive, CVS or amniocentesis will be offered.
Ultrasound: Uses sound waves to examine a fetus and screen for birth defects and signs of genetic disorders.
Amniocentesis: A diagnostic procedure where a small amount of amniotic fluid is taken from the sac surrounding the fetus and is tested. It is usually performed after 16 weeks of pregnancy.
Chorionic Villus Sampling (CVS): A diagnostic procedure where a small amount of tissue from the placenta is removed and tested. It is usually performed between 10 and 12 weeks of pregnancy.
Fetal blood sampling (PUBS): A procedure in which a sample of blood is taken from the umbilical cord and tested.
If you are at risk for having a baby with a genetic disorder, talk to your doctor about counseling and testing. This information can help a couple decide how to proceed. In most cases, even couples at risk can have healthy children with no genetic disorders. |
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