Genetics and Your Pregnancy
Prenatal (and Preconception) Genetic Counseling and Consultation Services
What is Genetic Counseling?
Genetic counseling is a consultation with a specially trained health care provider. The discussion includes information about the risk for a genetic condition or birth defect. The goal of the discussion is to help a person, couple or family understand possible risks, as well as available testing and management options. A genetic counselor provides individualized counseling and will discuss any concerns that individuals, couples or families may have for themselves, their children, or their pregnancies.
What may happen during a prenatal genetic counseling session?
The reason for your visit is discussed.
Your family, medical and pregnancy histories are reviewed.
Both family-specific and standard general population risks for the fetus are considered and evaluated in order to estimate your risk for having a child affected with a birth defect or a genetic condition. Any identified risk factors will be discussed.
Information about available testing options, including the risks, benefits and limitations of each test, is discussed.
You are provided with the opportunity to ask questions about any genetic concerns you may have.
Based on your knowledge and judgment, you decide whether to have any genetic testing.
The decision to pursue or decline any genetic procedure or testing is entirely yours.
Options for ethnicity-based carrier testing for couples may be reviewed. Carrier screening available to couples in the pre-conception or prenatal periods include (but is not limited to):
| Ethnicity | Testing |
| Caucasian | Cystic fibrosis |
|
African-American, Southeast Asian Mediterranean, Middle Eastern |
Hemoglobinopathies (including Sickle cell disease and alpha- & beta-Thalassemia) |
| Ashkenazi Jewish | Cystic fibrosis, Tay-Sachs disease, Canavan disease, Gaucher disease, Familial dysautonomia, Fanconi anemia type C, Niemann-Pick disease type A, Bloom syndrome, Mucolipidosis IV (new: Glycogen Storage Disease Type 1A and Maple Syrup Urine Disease) |
| French Canadian | Cystic fibrosis, Tay-Sachs disease |
How does the genetic counselor work with my doctor(s)?
Either your primary care doctor or a specialist can refer you for genetic counseling. You can also refer yourself if you have any concerns.
After the genetic counseling session, the genetic counselor sends a summary report to your doctor(s).
Who should consider prenatal genetic counseling?
(PLEASE NOTE: This list is meant to provide examples and may not include every possible indication for referral for genetics services.)
Women who will be 35 years or older at the time of delivery
Men who will be 40 years or older at the time of delivery
Anyone with maternal blood testing that indicates an increased risk for Down syndrome, trisomy 18 or spina bifida.
Anyone with abnormal or suspicious fetal ultrasound findings
Anyone with positive carrier screening for common conditions, like cystic fibrosis or sickle cell anemia.
Anyone with a family history of a birth defect, handicap, mental retardation or genetic condition
Anyone who is concerned that a job, lifestyle or medical history may pose a risk to a pregnancy (examples: exposure to infection, medicines, chemicals, alcohol or street drugs).
Anyone with two or more unexplained miscarriages or early infant deaths
Anyone with infertility issues that may have been caused by a genetic abnormality
Couples who are first cousins or other close blood relatives
Anyone who is planning a pregnancy and wants a genetic consultation prior to conception.
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