Genetic Counseling

Genetic counseling can help you understand and anticipate potential genetic conditions, disorders, and diseases before you get pregnant or give birth.

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Pregnancy & Childbirth

Whether you’re contemplating pregnancy or are already pregnant, your healthcare provider may recommend genetic counseling and tests if you or your partner have a family history of genetic disorders and/or you have had a fetus or baby with a genetic abnormality. Meeting with a genetic counselor can help you understand your risk of giving birth to a child with conditions based on factors such as your age, ethnic background, family and medical history. Having this information helps you prepare for your child’s birth and make important decisions during your pregnancy.

Some genetic disorders that can be diagnosed before birth include:

  • Cystic fibrosis
  • Duchenne muscular dystrophy
  • Hemophilia A
  • Thalassemia
  • Sickle cell anemia
  • Polycystic kidney disease
  • Tay-Sachs disease 

Genetic screening methods may include the following:

  • Ultrasound scan
  • Alpha-fetoprotein test (AFP) or multiple marker test
  • Chorionic villus sampling (CVS)
  • Amniocentesis
  • Percutaneous umbilical blood sampling (withdrawing a small sample of the fetal blood from the umbilical cord)

Who should consider genetic counseling?

Some babies are at a greater risk for certain diseases or traits based on the genetic makeup of their parents. If you or the father of your baby meet any of the following criteria, you should plan to speak with your doctor or midwife to determine if genetic counseling and testing is necessary:

  • Parents who have (or who think they may have) an inherited condition or birth defect.
  • Women over age 35.
  • Women who have had three or more miscarriages.
  • Parents who have already had a child with an inherited disorder or birth defect.
  • Parents who belong to a particular ethnic group that has a greater risk of certain diseases and conditions.
  • Parents of children that are diagnosed with a genetic disease during routine newborn screening
  • Pregnant women who have had ultrasounds or other tests indicating their baby may have a medical problem.
  • Parents with a medical history, job or lifestyle that could cause problems in pregnancy or lead to common birth defects or conditions.

Maternal Fetal Medicine of Central PA, offers prenatal and preconception genetic consultation and testing with caring, compassionate certified genetic counselors or potential occurrence of a genetic condition or birth defect.

Learn more about Genetic Counseling at Maternal Fetal Medicine of Central PA.