Genetic Counseling

Maternal Fetal Medicine Associates has links to world-renowned geneticists, neonatologists and other medical professionals that are always available for consultation in medically complex cases.

A Genetic Counselor (GC) is a health care professional with a master’s degree in human genetics and counseling. This training enables GCs to discuss technical genetic information in practical, useful terms. MFMA offers on-site genetic counseling by fully-certified Counselors. Whether you have a planned genetic consultation, or an immediate and unexpected concern arise, our genetic counselors can tend to your needs without delay.

Frequently Asked Questions

Once You Have Made Your Appointment

What to bring to your genetic counseling appointment Your referring physician may have already performed some of the tests that will be discussed. Please check with your obstetrician’s office prior to your appointment and ask that they fax us your relevant records. These may include tests such as Maternal serum screening results from your current pregnancy:

What to bring to your genetic counseling appointment:

First-trimester screening (the nuchal translucency test)
Non-invasive prenatal screening (such as Panorama, MaterniT21, Harmony)
Second-trimester screening (the quad screen or alpha-fetoprotein)
Carrier screening (such as Cystic Fibrosis, Fragile X, Ashkenazi Jewish carrier screening, universal carrier screening, hemoglobinopathy screening)
If your appointment is to discuss family history, please try to bring the genetic records of the affected individual in your family
If your appointment is to discuss an ultrasound finding, please bring a copy of that ultrasound report (unless your ultrasound was done at Carnegie Hill Imaging, as we will have that on file)

What testing options are offered during a prenatal genetic counseling session?

First-trimester screening (the nuchal translucency test)
Non-invasive prenatal screening (Panorama)
Second-trimester screening (the modified sequential screen or alpha-fetoprotein)
Carrier screening (Sema 4 Expanded Carrier Screen, hemoglobinopathy screening)
Invasive testing (chorionic villus sampling or amniocentesis)

Having these records prior to your appointment will help to ensure that you are seen on time and that we do not repeat tests that you have already had.

Learn More on Healthful Woman

Healthful Woman · "Prenatal Genetics" – Mini Series

Healthful Woman · "Fragile X Screening" – with Dr. Tamar Goldwaser