Genetics + Metabolism

Preconception and Prenatal Counseling

Helping You Plan for a Healthy Family

Caring for your baby's health begins even before you become pregnant. At the Preconception & Prenatal Counseling & Diagnosis Program at Tufts Medical Center, we provide couples with the information they need to make informed decisions about family planning.

We understand it can be difficult to consider that your child may be at risk for a genetic disease. Our compassionate, experienced doctors and genetic counselors will be there for you at every stage of your screening and diagnosis. Our goal is to help you choose the reproductive options that are best for you and your family.

Our services include:

  • Preconception screening to find out if you and/or your partner carry a specific gene mutation that may be passed onto your children
  • Prenatal screening to determine if there's a possibility your baby may have a particular genetic condition
  • Prenatal and newborn testing to conclusively diagnose a genetic condition
  • Genetic counseling to help you and your partner understand your reproductive options

We diagnose and screen for common genetic conditions such as:

  • Cystic fibrosis
  • Spinal muscular atrophy
  • Down syndrome
  • Fragile X and other cognitive disorders
  • Hemophilia and other clotting disorders
  • Sickle cell anemia and thalassemias

When Should I Consider Genetic Screening?

Your OB/GYN may recommend standard prenatal screenings, such as those for Down syndrome, regardless of your personal risk factors.

You or you partner should consider additional testing if:

  • You're having trouble getting pregnant or have had multiple miscarriages.
  • You have a family history of a specific genetic condition.
  • You have an ethnic background (e.g. Jewish, African American, French Canadian) in which some genetic diseases are more prevalent.
  • Your OB/GYN has determined your baby is at risk for a genetic syndrome.

What Can Genetic Testing Tell Me?

Preconception genetic screening can reveal if you and/or your partner are carriers for a specific genetic condition. Once your results are available, our genetic counselors will help you understand your reproductive risks and provide you with the information and support you need to make informed reproductive decisions. We work closely with the Division of Maternal Fetal Medicine to provide reproductive options such as preimplantation genetic diagnosis, sperm/egg donation and chorionic villus sampling (CVS) during your pregnancy.

Prenatal screening can help put your mind at ease with a simple blood test. If your results are negative, you'll know your baby is not at risk for a genetic condition, and you can focus on having a happy, healthy pregnancy.

If a prenatal screening indicates your baby may be at risk for a genetic condition, prenatal or newborn diagnostic testing (e.g. amniocentesis) through the Division of Maternal Fetal Medicine can help you get the answers you need to make informed decisions about your and your child's health.

Your geneticist and genetic counselor work closely with you to develop a care plan that's right for you, your partner and your baby. We also work with other Tufts MC physicians, including fertility and high-risk pregnancy specialists from the Maternal-Fetal Medicine Program, to make sure your family gets the high-quality treatment you deserve.

What If My Child Has a Genetic Condition?

We understand that caring for a child with a genetic condition can seem overwhelming. Of course, you want what's best for your baby right from the start.

We make transitioning from prenatal to pediatric care easy and worry-free. Our doctors and genetic counselors care for the full spectrum of hereditary disorders in both adults and children. This means you and your child can continue to receive care at Tufts MC — often from the same doctors you saw during your family planning and pregnancy.

Learn more about our Genetic Syndromes Program.

Compassionate Care from an Experienced Team

Founded in the early 1960s, the Genetics & Metabolism Division provides diagnosis, evaluation and lifelong care for adults and children with genetic and metabolic disorders. Our experienced team helps 1,500 patients a year to optimize their well-being by taking control of their condition.

Genetic counselors help patients and families understand genetic medicine while providing support and resources to make informed decisions about their health.

At Tufts MC, your genetic counselor is your partner in care. Many patients meet with our genetic counselor at the first appointment and often at follow-up appointments. In addition, our counselor works closely with our doctors to ensure you receive accurate, up-to-date responses to all your questions.

Your genetic counselor can:

  • Help you decide if genetic testing is right for you.
  • Provide more information about your or your child's condition.
  • Review treatment plans and answer questions.
  • Assist with getting referrals to the appropriate specialists.
  • Help you talk to family members about whether they should consider genetic screening.
  • Connect you with resources such as support groups, local organizations and reliable online sources.
  • Work with your insurance company on coverage for our services.

We value our relationship with primary care physicians, and we're committed to communicating with you throughout your patient's genetic screening or treatment.