Q: What is Genetic Counseling?
A: Genetic counseling helps families understand information about birth defects and inherited conditions. Detailed information about your family history is reviewed. If there is a family history of a genetic condition, the genetic counselor will discuss the chance that the condition will occur again in your family. The genetic counselor also will provide up-to-date information about available genetic tests, treatments, research options support organizations and community resources.
Q: What is a maternal fetal medicine specialist?
A: A maternal fetal medicine specialist is an obstetrician/gynecologist with specialized training in high-risk pregnancy and ultrasound.
Q: I was diagnosed as having a high-risk pregnancy before. Does that mean all pregnancies will be high risk?
A: Certain medical conditions, such as diabetes, hypertension and lupus, warrant management by, or consultation with, a perinatologist. Other problems that occur during a pregnancy, such as pre-term labor, may or may not occur in a subsequent pregnancy. Early assessment with each pregnancy is the best way to determine the optimal management of your pregnancy.
Q: When Should You Consider Genetic Counseling & Prenatal Diagnoses?
A: You should consider genetic counseling and prenatal diagnosis if:
- You are 35 years or older; or will be 35 years or older at delivery.
- You have a history of pregnancy losses (miscarriages or stillbirths).
- You have an ongoing medical condition such as diabetes, thrombosis, psychiatric conditions, or a seizure disorder.
- You have been exposed to certain medications, alcohol, street drugs, chemicals, x-rays or infections during your pregnancy.
- You or your partner are from an ethnic origin in which a specific genetic condition is more common (e.g. sickle cell anemia in individuals of African-American descent and Tay Sachs disease in individuals of Ashkenazic Jewish descent).
- The results of a maternal serum screening test indicate that your baby is at increased risk for Down syndrome, trisomy 18 or spina bifida.
- You and your partner are blood relatives
- An ultrasound evaluation has indicated an abnormality in the developing baby.
- You or your partner have a family history of a genetic condition (e.g. cystic fibrosis or muscular dystrophy), birth defect (e.g. cleft lip/palate or heart defect), or mental retardation.
Q: When should I consider genetic testing?
A: Genetic testing should be considered for women planning to have a child or pregnant if you are:
- 35 years of age or older; or will be 35 years or older at delivery
- Or, you have a history of pregnancy losses
- Or, you have an ongoing medical condition, such as diabetes
- Or, you have been exposed to certain medications, drugs or alcohol during your pregnancy
- Or, you have a family history of a genetic condition.
Q: What is an amniocentesis?
A: An amniocentesis is an outpatient procedure involving removal of fluid from around the baby in the womb. The fluid is then tested for chromosomal and some biochemical disorders. Results of the test are generally available within 8-10 days. A faster, preliminary analysis, called FISH, is also available to identify Down syndrome and some other trisomies. Results from the FISH test are available in two business days.
Q: Is ultrasound harmful to my baby?
A: During pregnancy, pulsed-wave ultrasound is used. The low-energy level, plus the short amount of time the ultrasound is used, make it safe to be used during pregnancy. The diagnostic ultrasound has been used for more than 30 years, and no negative effects from exposure have been detected during this time.
Q: What is a genetic counselor?
A: A genetic counselor is a health care professional with a master's degree, including specialized training in human/medical genetics and counseling. Genetic counselors are certified by either the American Board of Genetic Counseling or the American Board of Medical Genetics. Genetic counseling is a dynamic psychoeducational process centered on genetic information.
Q: What actually happens during a genetic counseling session?
A: A genetic counselor will review your medical family history and possibly look at your family tree, called a pedigree. The counselor may explain prenatal and genetic testing options, discuss benefits and limitations of testing, facilitate decision making and provide other genetic information as requested.
Q: If I am not planning any more children, what would be the benefit of genetic counseling?
A: Since we do not have control over what genes we inherit, counseling allows individuals to gain as much control as possible over management of their health and other significant life choices. We continue to learn more about genetic conditions that may affect an individual from birth to adulthood. Some conditions do not occur until later in life. New discoveries frequently allow for earlier detection and better treatment and management, which ultimately improve the lives of children and adults.
Q: Who should consider genetic counseling?
A: Family member who was born with a birth defect [i.e. congenital heart disease, cleft lip, spina bifida] Those with a family history of a genetic condition [i.e. Down syndrome, cystic fibrosis] Women with a history of two or more miscarriages. Pregnant women who will be 35 or older at the time of delivery. Individuals of certain ethnic backgrounds [i.e. Ashkenazi Jewish or French Canadian descent]
This is not a complete list. For additional questions, contact us at the St.Vincent Maternal Fetal Medicine and Genetics Center, 317-415-8100, and ask to speak with a genetic counselor.
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