Prenatal Genetic Testing
We are dedicated to helping you understand your family’s genetic risk factors and prenatal testing options for various fetal health concerns. Our genetic counselors expertly interprete your genetic tests and answer all of your questions so you can make the best healthcare decisions for you and your family. Please note, the availability and timing of these tests may vary by location.
What is prenatal genetic testing?
Prenatal genetic tests can determine if there is an increased chance for your child to have conditions such as Down syndrome, cystic fibrosis and spinal muscular atrophy. All women, regardless of risk should be offered prenatal testing.
What are screenings tests?
Screening tests are non-invasive and can determine the chances your baby has a genetic disorder.
- Cell Free DNA Screening - this screening requires a maternal blood draw performed after 10 weeks gestation.This test has a high rate of detection for Down syndrome, Trisomy 18, Trisomy 13, and the sex chromosome disorders, such as Turner syndrome and Klinefelter syndrome.
- First Trimester Screening - this screening requires a maternal blood draw and fetal ultrasound, performed between 10 to 13 weeks gestation.
- Second Trimester Screening (AFP4) - this screening is performed between 15 and 21 weeks. Second trimester risk levels are calculated by taking into account your age and the levels of four biochemical markers being produced during the pregnancy.
- Sequential Screening - this screening combines your first and second trimester screens to determine risk information for Down syndrome, trisomy 18 and open fetal defects such as spina bifida.
- Carrier screening - this screening can help determine if your child is at risk of cystic fibrosis, Tay-Sachs disease, sickle cell anemia - and about 80 other genetic conditions.
What is diagnostic testing?
If your child is at an elevated risk for certain birth defects, you might benefit from diagnostic testing during your pregnancy. These tests are invasive but can determine if your child has the condition you are testing for.
- Chorionic villus sampling (CVS) - this test takes cells from the placenta between 10 and 13 weeks gestation. Using ultrasound guidance, a catheter is guided through the cervix to obtain a biopsy of the placenta, or a needle is placed through the abdomen into the placenta.
- Amniocentesis - this test analyzes the amniotic fluid surrounding the fetus and is performed after 15 weeks gestation. Using ultrasound guidance, a needle is placed through the abdominal wall into the uterus.
Depending on your test results, you might require further genetic counseling or screenings.