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Genetic Counseling

At Women’s Health Connecticut, we offer expert genetic counseling and testing services to support your journey before and during pregnancy. Our experienced providers can coordinate testing, answer your questions, and help you make the best decision for your reproductive future.

Preconception and Pregnancy Genetic Counseling

Whether you’re planning for pregnancy or already expecting, understanding your genetic health can help you make informed decisions for your family. At Women’s Health Connecticut, we offer expert genetic counseling and testing services to support your journey before and during pregnancy.

What Is Genetic Counseling?

Genetic counseling is a process that helps you understand your risk of passing certain genetic conditions to your children. Our experienced providers review your personal and family history to assess whether you or your partner could be carriers of inherited conditions.

We offer guidance, carrier testing, answer your questions, and support you in deciding which testing is best for you.

What Diseases Can Be Detected Through Genetic Testing?

Through genetic testing for pregnant women and those trying to conceive, we can screen for many inherited and potentially serious health conditions, including:

  • Cystic Fibrosis: A genetic disorder that affects the lungs and digestive system, causing thick, sticky mucus to build up and lead to breathing and nutritional problems. It typically appears in infancy or early childhood and requires lifelong care.
  • Sickle Cell Disease: A blood disorder that causes misshapen red blood cells, leading to pain, infections, and anemia. Symptoms often begin in early childhood and can lead to serious complications if not managed.
  • Spinal Muscular Atrophy: A genetic condition that affects the muscles used for movement, swallowing, and breathing. It can appear in infancy or childhood, with severity ranging from mild weakness to life-threatening complications.
  • Tay-Sachs: A rare genetic disorder that causes the destruction of nerve cells in the brain and spinal cord, leading to progressive decline and early death in infants.
  • Hereditary Breast and Ovarian Cancer Risks: While these types of cancers typically develop in adulthood, identifying the genetic risk early can inform future screening and prevention strategies for both the individual and their family members
  • Down syndrome (trisomy 21): A chromosomal condition that causes intellectual disability and developmental delays, along with potential heart and health issues, but children can live long and fulfilling lives with support.
  • Trisomy 18: A more severe chromosomal condition that often leads to serious medical complications and significantly shortened life expectancy.

Our goal is to provide clarity and support, enabling you to make the best decision possible for you and your baby.

When Should You Consider Genetic Counseling?

You may benefit from preconception or prenatal genetic counseling if:

  • You’re planning a pregnancy and want to understand your genetic risks
  • You’re currently pregnant and considering genetic testing for fetal health
  • You or your partner have a personal or family history of a genetic condition
  • You’re of Ashkenazi Jewish, African, Mediterranean, or Southeast Asian descent (some inherited conditions are more common in specific populations)
  • You’re over 35 and want to explore aneuploidy screening options

Our Services

At Women’s Health Connecticut, we offer a wide range of services, including: 

  • Genetic counseling
  • Screening coordination and follow-up
  • Carrier screening
  • Family history assessment
  • Preconception Genetic Evaluation 
  • Review of medications or other lifestyle factors that could impact a healthy pregnancy or your ability to conceive

How do you know which service is right for you? Your Women’s Health Connecticut provider will help you decide the best path forward.

Preconception Genetic Testing

The optimal time to get screened for any inherited conditions or carrier genes is before you get pregnant. With preconception counseling and genetic testing, we can help you identify your genetic risks before pregnancy, allowing you to make informed, proactive health decisions.

Carrier Screening

Carrier screening is a type of genetic test that shows whether you or your partner carry genes for inherited conditions such as:

  • Cystic Fibrosis
  • Sickle Cell Disease
  • Spinal Muscular Atrophy (SMA)
  • Tay-Sachs Disease
  • And other autosomal recessive or X-linked conditions

These tests are especially valuable if there’s a family history or known risk factors.

Prenatal Genetic Testing

If you’re already pregnant, we offer safe screening options for you and your baby. These include:

  • Non-invasive prenatal testing (NIPT), also known as cell-free fetal DNA (cffDNA) screening. This blood test assesses the risks of certain chromosomal conditions such as Down, Edward or Patau syndrome.
  • Fetal aneuploidy evaluation
  • Carrier testing and hereditary cancer gene screening

All testing is carefully explained and supported by our compassionate, board-certified providers and genetic counselors.

Prenatal and Genetic Testing Before Pregnancy in Connecticut

Whether you’re thinking about pregnancy or already expecting, we’re here to guide you with knowledge, care, and confidence. Speak with your Women’s Health Connecticut provider today to explore your options and get personalized insights into your reproductive health.

Meet our Provider

Emily Gaudet

Emily the Lead Genetic counselor at Women’s Health Connecticut. She specializes in clinical prenatal and laboratory prenatal genetics with previous experience working at St. Vincent’s Medical Center Maternal Fetal Medicine, Yale New Haven Health Antenatal Testing Unit, Women’s Health Connecticut Laboratory, and as a reproductive genetic counselor. Prior to entering the field of genetics, she was a secondary school science educator. Emily lives in Hamden with her husband, son, and cat, and loves running, reading, and making art.