Obstetrics and Gynecology

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Prenatal/Preconception Genetic Counseling, Prenatal Diagnosis

Family with Child with Special Needs

During pregnancy, and sometimes even before becoming pregnant, women and couples may consider genetic screening or testing. Family history may put a woman and her baby at an increased risk for birth defects and certain genetic conditions or she may have been told that her pregnancy is at an increased risk based on ultrasound or screening results.

At USF Health, our genetic counselor is a specialty-trained professional who works as part of our High-Risk Pregnancy and Maternal Fetal Medicine team, can meet with you before or during your pregnancy to discuss and help you understand your pregnancy screening and testing options and help you decide what is best for you and your family. Our genetic counselor can help order and coordinate genetic testing and when testing is completed can interpret these results and clearly explain them to you.  

Common reasons for being referred to a genetic counselor before or during your pregnancy may include:

  • Discussion of genetic screening tests
  • Discussion of prenatal diagnostic options, including amniocentesis and CVS
  • Screening results indicating an increased chance for a genetic condition or birth defect
  • Concerns on ultrasound during pregnancy
  • Personal or family history of a birth defect or genetic condition
  • Recurrent miscarriage
  • Exposures to medications, drugs, or other possibly harmful substances

Once you have scheduled an appointment, please complete the patient forms and bring to the appointment.

Prenatal Diagnosis

Your USF Health team will share with you testing options for prenatal diagnosis of conditions that may affect the health of your child. The two main tests are amniocentesis and chorionic villus sampling (CVS), which help find genetic disorders before the birth of your child.

Knowing about problems before the baby is born may help parents prepare for future health care needs for their infant. Certain problems can be treated before the baby is born and other problems would need treatment right after delivery.

Amniocentesis or CVS  tests are optional tests that may be offered when there is an increased risk that the baby may have genetic disorders or birth defects. To discuss the benefits, risks, and limitations of these tests, you may meet with the genetic counselor prior to deciding to have the test done. It is typically offered if:

  • By the time your baby is born, you will be 35 years of age or older. 
  • You have increased risk of having a baby with a chromosome abnormality. This could include Down syndrome.
  • A screening test or ultrasound indicated there could be a problem.
  • One of your children has Down syndrome or another disorder. This could include spina bifida.
  • You are aware that a family member is a known carrier of a genetic disorder, such as cystic fibrosis.