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Genetic Testing

Our genetic counselors at SSM Health are dedicated to helping you understand your family’s genetic risk factors and prenatal testing options for various fetal health concerns.

We do this by providing expert interpretation of your genetic tests and answering all of your questions. We believe that with the right information, you can make the best healthcare decisions for you and your family. The availability and timing of these tests may vary by location.

Prenatal Genetic Testing

Prenatal testing is available and should be offered to all women, regardless of risk. These 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.

There are two different types of prenatal tests for genetic disorders:

  1. Screening tests are non-invasive and can determine the chances your baby has a genetic disorder.
  2. Diagnostic tests can tell whether your baby actually has a certain disorder.

We offer both screening and diagnostic testing to all pregnant women. Schedule an appointment today for more information about what you can learn from genetic testing.

Types of Screenings Tests

Cell Free DNA Screening is 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.

Sequential Screening combines first and second trimester screens to determine risk information for Down syndrome, trisomy 18 and open fetal defects such as spina bifida.

First Trimester Screening requires a maternal blood draw and fetal ultrasound, performed between 10 to 13 weeks gestation.

Second Trimester Screening (AFP4) 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.

Carrier screening helps determine if your child is at risk of cystic fibrosis, Tay-Sachs disease, sickle cell anemia - and about 80 other genetic conditions.

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.

CVS 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 is a test that 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 the test results, you might require further genetic counseling or screenings. SSM Health offers this extensive support and more.

No matter your situation, you can count on SSM Health to deliver comprehensive high-risk pregnancy care. Our goal is to give you a peace of mind and ensure you have the healthiest pregnancy possible. Find a provider near you today to learn more.

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