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Ask Our Physicians: Birth Defects

Posted on November 16, 2017
Perry Roussis, MD, FACOG
Perry Roussis, MD, FACOG

Dear Dr. Roussis:

I just learned I’m pregnant and would like to know if my baby is at risk for a birth defect. How do I get tested?  

Birth Defects 

Birth defects affect one in every 33 babies born in the United States each year. Common birth defects can be attributed to inheritable conditions, genetic abnormalities, structural defects, or defects due to certain maternal infections or environmental exposures. 

Genetic Counseling

At Fort Sanders Perinatal Center, our certified genetic counselors will develop a personalized pregnancy plan for genetic counseling, testing and treatments. Testing will diagnose or rule out chromosomal abnormalities and other genetic birth defects, and may include:

  • Blood tests
  • Ultrasound (using sound waves to look at internal structures)
  • Chorionic villus sampling (testing the tissues around the fetus)
  • Amniocentesis (withdrawing a sample of the amniotic fluid)

Although anyone can receive genetic counseling and testing, we highly recommend it for: 

  • Women older than 35 who are pregnant or planning to become pregnant
  • Certain ethnicities with increased risk for recessive genetic diseases
  • Couples with increased risk for birth defects, chromosomal problems or genetic conditions
  • Couples who have a child with a birth defect
  • Couples with recurrent miscarriages
  • Detection of a birth defect (such as cleft lip, club feet, heart defect, or spina bifida), chromosomal, or genetic conditions in an unborn baby

Speak with a Genetic Counselor

If you are interested in speaking with one of our genetic counselors, please call (865) 331-2020 for an appointment.

Depending on your insurance, you may need a referral from your primary care physician for genetic counseling to be a covered benefit.

Before you schedule an appointment, it is helpful to gather as much information as possible about the issues that are concerning you. We suggest you talk with family members and request medical records.

Disclaimer: please note that this information is for educational purposes only and is not intended to serve as medical advice. If you have a specific medical question or issue, we encourage you to call our office at (865) 331-2020 and schedule an appointment.

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