The prenatal genetics team provides care for women who are currently pregnant or are planning a pregnancy.
Common reasons for referral include
- Advanced maternal age (women who are 35 or older at delivery)
- Personal or family history of a birth defect, genetic condition, or intellectual disabilities
- Abnormal prenatal testing such as maternal serum screening, ultrasound, or carrier screen
- Abnormal finding on ultrasound
- Ethnic-based carrier screening (i.e. sickle cell, cystic fibrosis, Tay-Sachs)
- Consanguinity (couple is related by blood)
- Exposure to medications, drugs, alcohol, radiation or infections (teratogens)
- Recurrent pregnancy loss or infertility
Tests Available at Boston Medical Center
- First and second trimester maternal serum screening
- Non-invasive prenatal testing via cell-free DNA (NIPT)
- Ancestry-based carrier screening
- Paternity testing
- Non-stress tests
- Fetal echocardiogram (performed in Pediatric Cardiology)
- Amniocentesis and CVS (chorionic villus sample)
Genetic counseling is available held Monday-Friday in Boston Medical Center’s Antenatal Center, Yawkey 4th Floor.
Medical geneticist Jodi Hoffman, MD provides consultations on Tuesdays in Boston Medical Center’s Women Center, Yawkey 4th Floor.
What to Expect at Your Visit
Please allow 1 hour for your initial visit.
The genetic counselor or geneticist will start by asking you questions about your pregnancy, medical history, and family history. They do not expect you to have the answer to every question and whatever information you have is typically helpful. They will then review any pertinent prenatal testing as well as any potential risk factors in your pregnancy or future children. Based upon these risk factors, various prenatal testing options will be discussed. Prenatal testing is optional and the advantages and disadvantages of testing will be discussed. Even if you do not think you want prenatal testing, a genetics visit can still be helpful in managing your pregnancy. If you do elect to have testing, the genetic counselor or geneticist will arrange testing and coordinate giving you the results.