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Genetic Testing and Counseling - Prenatal

Genetic Testing and Counseling - Prenatal

Genetic Testing and Counseling - Prenatal

When you are pregnant, it is normal to have concerns about the health of your baby. That’s why we offer genetic counseling and a wide range of genetic testing options using the latest tools and technology.

If your family or personal health history suggests that genetic testing would be beneficial, your physician may recommend one of our licensed genetic counselors to help you evaluate family history and medical records, order genetic tests and evaluate the results and understand and reach a decision about your next steps, depending upon your test results. 

Genetic Counseling

Some babies are at a higher risk of inheriting certain diseases. You should consider genetic counseling if you or your partner meet certain criteria, including:

  • Having (or thinking you have) an inherited condition or birth defect
  • Being 35 or older at the time of your pregnancy
  • Having three or more miscarriages
  • Having a child that has been diagnosed with an inherited disorder or birth defect
  • Belonging to an ethnic group that carries a higher risk of certain diseases and conditions
  • Having a medical history, job or lifestyle that could cause problems in pregnancy or lead to birth defects
  • Having ultrasound or other test results that indicate there may be a problem with your pregnancy

If you decide to pursue genetic counseling, our compassionate, caring specialists will help you determine which tests are appropriate and whether the tests pose any risks to your baby.

Genetic Testing

The specialists at PinnacleHealth are experts at diagnosing and evaluating the risk of genetic conditions and birth defects. Some genetic disorders that can be diagnosed before birth include:


  • Down syndrome
  • Trisomy 18
  • Trisomy 13
  • Turner syndrome
  • Cystic fibrosis


  • Tay Sachs disease
  • Thalassemia
  • Sickle cell anemia
  • Spinal muscular atrophy
  • Fragile X syndrome

What to Consider

If you are considering genetic testing, it may be helpful to think about your responses to several questions, including:

  • How important is the reassurance of a negative or normal screening test?
  • If the results of a screening test are positive or worrisome, will you choose a more invasive diagnostic test that carries a risk to the pregnancy?
  • Would a firm diagnosis affect how you handle the pregnancy or prepare for the baby?
  • If you opt out of further testing, how will you handle the uncertainty about your baby’s health?

Types of Genetic Tests

Some prenatal tests, called screenings, only reveal the possibility of a problem. Other tests are diagnostic, meaning that they can determine—to a certain degree—whether your baby has a specific problem or condition. Common genetic tests include:

Chromosomal Screening

  • First Trimester Screening. A maternal blood test and ultrasound is done to screen for Down syndrome, Trisomy 18 and Trisomy 13.
  • Non-Invasive Prenatal Testing (NIPT). The amount of cell-free DNA in your blood is measured to see if your baby may have Down syndrome and other chromosomal conditions.
  • Quad Screen. The levels of four hormones in your blood are checked in the second trimester to see if your baby is at risk for Down syndrome, Trisomy 18, and open neural tube defects.

Genetic carrier screenings

  • High-risk ethnic group screening. Genetic carrier screening may be given to parents if they are part of an ethnic group that is at a high risk of developing certain genetic conditions. Screenings determine if one or both parents is a carrier of a genetic disease, such as sickle cell anemia or Tay Sachs disease.
  • General population screening. These tests help determine if one or both parents is a carrier of any genetic diseases common in the general population, such as Fragile X syndrome or cystic fibrosis.
  • Family history screening. If you or your partner have a family history of a genetic condition, our specialists can conduct screenings to determine if one or both parents is a carrier.

Diagnostic Testing

  • Chorionic villus sampling (CVS). Some cells from your placenta are removed at the point where it attaches to your uterine wall to diagnose chromosomal abnormalities and other inherited disorders.
  • Amniocentesis. A small quantity of fluid is removed from the amniotic sac surrounding your baby to diagnose certain birth defects, genetic conditions or infections.
  • Percutaneous umbilical blood sampling. A small sample of your baby’s blood is drawn from the umbilical cord to detect certain blood conditions or infections.

Other Screenings

  • Alpha-fetoprotein (AFP). The level of AFP in your blood is checked to see if your baby has spina bifida or anencephaly.
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