Prenatal Diagnostic Testing and Genetic Counseling

Many who are contemplating pregnancy-or are already pregnant-have questions about their genetic background or other factors that may affect their baby's health. Greenwich Hospital's genetic specialists can help answer these questions through a variety of prenatal tests and genetic counseling services.

For instance, the patient may want more information about her child's risk for chromosome disorders such as Down syndrome. Although general risk is based on the mother's age at delivery, screening tests can more specifically determine how this risk applies to the patient.

Or, the patient may wish to learn about carrier testing for specific genetic disorders that occur in many ethnic groups. Carrier testing determines whether the unique combination of each partner's genes might place the baby at risk, despite family histories showing no indication of these conditions.

Genetic counselors help individuals and families:

• understand the cause of a condition
• know the chance of having future children with a condition
• learn about current research, testing procedures, prenatal diagnosis
• contact community resources, and if possible, other families or patients with the same condition
• adjust to the personal and family issues related to a genetic disorder

In addition, they counsel couples who are planning a pregnancy and are interested in prenatal diagnostic testing, which might include carrier screening for genetic disorders or amniocentesis to rule out chromosomal abnormalities.

Who might benefit from genetic counseling?

• Couples who are interested in prenatal diagnosis
• Anyone planning a pregnancy
• Women who are concerned about first or second trimester screening results
• Women age 35 and over
• Couples who have experienced repeated pregnancy loss
• Parents of a child who may have developmental delays or birth defects and are planning a future pregnancy
• Anyone who has a family history of birth defects, mental retardation, seizures, muscle or kidney disease or other serious condition
• Couples who are related by blood

Disorders Linked to Ethnicity
Carrier detection, prenatal diagnosis and counseling services are offered for disorders typically found in certain ethnic groups:

• Thalassemias or Sickle Cell disease (inherited anemias)
• Tay-Sachs, Canavan, Familial Dysautonomia (neurological disorders)
• Cystic Fibrosis (pulmonary disease and/or pancreatic insufficiency)

Carriers of these diseases have no symptoms. Only if both members of a couple are carriers are they at risk of having a child with the disorder.

Other Prenatal Diagnostic Tests
A variety of additional prenatal tests are available, including:

• Maternal serum screening performed during the first two trimesters to better define a woman's risk for certain chromosome abnormalities such as Down syndrome, or neural tube defects such as spina bifida,
• Fetal tissue sampling or amniocentesis to rule out chromosome disorders and some biochemical problems
• Targeted, or Level II ultrasound imaging of the fetus to look for structural abnormalities

Our Staff
Our genetic counselors are certified by the American Board of Medical Genetics and the American Board of Genetic Counseling.

Appointments
Call (203) 863-3917
Appointments are available weekdays at Greenwich Hospital. We suggest you schedule as soon as possible in order to maximize your testing options.

Payment
This service is often covered by your health insurance, but please check first with your provider.

Genetic Counseling and Cancer
Research shows certain inherited traits or genes can contribute to the development of breast, ovarian, pancreatic, colon, uterine and prostate cancer. People with a family history of these cancers may be at a greater risk for developing the disease. These individuals can benefit from genetic counseling and testing to make decisions about managing their risk for cancer.

Genetic counseling and testing is available at Greenwich Hospital through an outreach clinic of the Yale Cancer Center and the Yale School of Medicine. Genetic counseling involves a discussion of an individual's personal and family history of cancer, risk assessment, review of hereditary cancers, discussion of possible test results and surveillance, and risk reduction options. Genetic testing involves the use of laboratory methods to obtain a more precise estimate of a person's cancer risk.

Danielle Campfield, MS, a genetic counselor with the Cancer Genetic Counseling Program at Yale, meets with individuals interested in genetic counseling at Greenwich Hospital once a month. Campfield is board-certified by the American Board of Genetic Counseling and holds a bachelor's degree in biology and a master's degree in genetic counseling.

Who is eligible for genetic counseling?
People may benefit from genetic counseling if they have a personal and/or family history that includes any of the following:

• Multiple relatives on the same side of the family with the same or related types of cancer, such as breast/ovarian/pancreatic cancer or colon/uterine/ovarian cancer.
• A diagnosis of cancer at an early age (before age 45 for breast cancer or before 50 for colon cancer).
• More than one cancer diagnosis in the same individual, such as breast and ovarian cancers or colon and uterine cancers.
• Rare cancers, such as male breast cancer.
• A family history of a known, altered cancer-predisposition gene.
• Jewish ancestry, which increases the risk for hereditary breast and ovarian cancer.

BRCA1 and BRCA2
Heredity accounts for about 10 percent of breast and ovarian cancer among women. In this syndrome, cancers occur as a result of inheriting an altered BRCA1 or BRCA2 gene. Women with a mutation in either gene are at increased risk for early-onset breast cancer, bilateral breast cancer and ovarian cancer. For individuals at increased risk to carry a mutation, genetic counseling and testing is available. Genetic counseling combined with genetic testing may help women to make important decisions about medical care and cancer screenings.

To make an appointment to see a genetic counselor at Greenwich Hospital, call the Cancer Genetic Counseling Program at Yale at (203) 764-8400.

Back to Maternity Services
Back to Cancer Oncology