中文版
 
Genetic Services

Preconception Planning


Planning

Congratulations! You’re planning a family. There are several things that you can do to help ensure that you have the healthiest pregnancy possible.

  • Develop good diet, exercise, and lifestyle habits.
  • Visit your doctor for a general physical exam.
  • Begin taking a daily prenatal vitamin (containing at least 400mcg of folic acid) to help prevent some birth defects.
  • Limit or eliminate alcohol, tobacco, and recreational drugs, which increase the chance for an unhealthy pregnancy. Let your doctor know if you need help to stop these activities.
  • Discuss with your doctor if you have a chronic condition that requires you take medication. Certain medicines may not be safe in pregnancy.
  • Consider screening for genetic diseases which may be more common in your ethnic background. For some of the most common genetic diseases, a simple blood test is available to determine if you are at risk to have children with a disease. Also see our page on Ethnicity Based Carrier Screening.
  • Gather medical information from you and your partner’s immediate family members. Individuals with a family history of certain diseases or birth defects may be at increased risk of having children with similar symptoms. A complete assessment of your family history can help you understand the specific risks for you or your children. In some cases, detailed testing is available to predict who is at risk. Also see our page on Family History Assessment.

Genetic Counseling, Family History Assessments, and detailed genetic testing can be helpful for women and families with known risk factors. However, most women are able to have normal pregnancies and give birth to healthy babies. There is no test that can predict a couple’s ‘compatibility’ for having children or guarantee a perfect child. If you are unsure whether genetic information may be helpful in your family planning, discuss your concerns with your physician or OB/GYN.


Ethnicity Based Carrier Screening

Some recessive genetic conditions are known to occur with an increased frequency in certain ethnic groups. A person is called a ‘carrier’ when they have a silent genetic trait that does not cause any medical symptoms. When both parents are carriers of the same recessive disease, there is a one in four (25%) chance that the pregnancy will inherit the trait from both parents and have the disease, a one in two (50%) chance that the pregnancy will inherit the trait from only one parent and be a carrier, like the parents, or a one in four (25%) chance that the pregnancy will not inherit the trait from either parent and will not be a carrier or have disease.

Even when there is no obvious family history of a disease, there is still a risk that any individual may be a carrier for a recessive disease based on ethnic background. Carrier status for a recessive disease is commonly passed silently from generation to generation. Frequently, carriers are identified only by a specific genetic test. Below is a table listing some of the more common diseases and carrier frequencies in different ethnic groups.

Ethnic Group

Disease

Carrier Frequency

Ashkenazi Jewish

 

Canavan Disease

1 in 40  (2.5%)

Tay Sachs Disease

1 in 30  (3%)

Cystic Fibrosis

1 in 25-29 (4%)

Familial Dysautonomia

1 in 30 32 (3%)

African American / West Africa

Sickle Cell Anemia

1 in 6 – 12  (8 - 16%)

Other Hemoglobinopathies

1 in 30 – 75 (up to 3%)

European Caucasians

Cystic Fibrosis

1 in 25 - 29 (4%)

Mediterranean / South Asian

Beta Thalassemia

1 in 20 - 30  (3 - 5%)

SE Asian  (Laos,  Vietnam, Thailand)

Alpha Thalassemia

1 in 20  (5%)

Beta Thalassemia

1 in 30 (3%)


Family History Assessment

If you are concerned about your genetic family history, a genetic counselor can help you determine what your specific risks may be. A family history of known genetic disease, birth defects, and/or genetic conditions can influence the health of a pregnancy, affect childhood development, or determine who will be susceptible to certain adult onset conditions. In other families there may be several related individuals who all have similar conditions and you may wonder if your children are at increased risk for similar symptoms.

A trained genetic professional can perform a detailed review of your family history. They will ask questions about your personal and medical history and the medical history of your siblings, parents, and cousins. Depending on your specific concerns, information may be needed on distant family members as well. Your partner’s personal, medical, and family history also will be reviewed. Any genetic patterns or other noted risks then will be discussed with you. You may receive information about recurrence risks and early warning signs or you may be offered more specific genetic testing to gather more information.

If you have a family history of a known genetic disease, specific genetic tests may be available to help determine your personal risk of disease or risk of passing a condition onto your children. Sometimes genetic testing is not available or is not an option for families with a history of certain birth defects or other complex conditions. Your genetic counselor may be able to provide recurrence risks based on the specific observed patterns in your family. Since genetic testing is a growing field, there are more tests being offered each year. You also may be able to enroll in research studies to help scientists develop new disease tests. The reproductive genetics team here at GIVF is available to help you determine the best course of testing, counseling, or treatment to best fit your needs and family building goals.

To schedule an appointment, click here or call 800.552.4363 or 703.698.7355.