In this section
About medical genetics
- Chromosome abnormalities
- Genetic services: when, where, how
- Identification, treatment and prevention of birth defects
- Before your next pregnancy
- The Human Genome Project
- Vitamin, gene and enzyme replacement therapy
- When to seek genetic counseling
- Multifactorial inheritance
- Neurofibromatosis and related disorders
- Non Traditional Inheritance
- Rasopathy disorders
- Single gene defects
- Genetics and genomics support groups
- The difference between a chromosome abnormality and a single gene defect
- Tuberous sclerosis
- Uses of genetic testing
Before your next pregnancy
What to do before (and during) your next pregnancy to lessen the chance for birth defects:
If you are planning to become pregnant, taking certain steps can help reduce risks to both you and your baby. Proper health before deciding to become pregnant is almost as important as maintaining a healthy body during pregnancy.
The first few weeks are crucial in a child's development. However, many women do not realize they are pregnant until several weeks after conception. Planning ahead and taking care of yourself before becoming pregnant is the best thing you can do for you and your baby.
One of the most important steps in helping you prepare for a healthy pregnancy is a pre-pregnancy examination (often called preconception care) performed by your physician before you become pregnant. A preconception visit includes assessments of your overall health and identification of potential risk factors that may complicate pregnancy. Women can receive advice and treatment for medical conditions such as diabetes or heart disease that may be changed by pregnancy. By preparing in advance, you can be your healthiest before becoming pregnant. A preconception examination may include any/all of the following:
- Family medical history - an assessment of the maternal and paternal medical history -- to determine if any family member has had any medical conditions such as high blood pressure, diabetes, and/or mental retardation.
- Genetic testing - an assessment of any possible genetic disorders -- as several genetic disorders may be inherited, such as sickle cell anemia (a serious blood disorder which primarily occurs in African-Americans) or Tay-Sachs disease (a nerve breakdown disorder marked by progressive mental and physical retardation which primarily occurs in individuals of Eastern European Jewish origin). Some genetic disorders can be detected by blood tests before pregnancy.
- Personal medical history - an assessment of your personal medical history to determine if there are any of the following:
- Medical conditions that may require special care during pregnancy, such as epilepsy, diabetes, high blood pressure, anemia, and/or allergies.
- Previous surgeries.
- Past pregnancies - including the number, length of pregnancy (gestation), previous pregnancy complications, and/or pregnancy losses.
- Vaccination status - an assessment of current vaccinations/inoculations to assess immunity to rubella (German measles), in particular, since contracting this disease during pregnancy can cause miscarriage or birth defects. If a woman is not immune, a vaccine may be given at least 3 months before conception to provide immunity.
- Infection screening - to determine if a woman has a sexually transmitted infection or urinary tract infection (or other infection) that could be harmful to the fetus and to the mother.
Reducing the risk of complications
Other steps that can help reduce the risk of complications and help prepare for a healthy pregnancy and delivery include the following:
- Smoking cessation - If you are a smoker, stop smoking now. Studies have shown that babies born to mothers who smoke tend to be lower in birthweight. In addition, exposure to secondhand smoke may adversely affect the fetus.
- Proper diet - Eating a balanced diet before and during pregnancy is not only good for the mother's overall health, but essential for nourishing the fetus.
- Proper weight and exercise - It is important to exercise regularly and maintain a proper weight before and during pregnancy. Women who are overweight may experience medical problems such as high blood pressure and diabetes. Women who are underweight may have babies with low birthweight.
- Medical management (of preexisting conditions) - Take control of any current or preexisting medical problems, such as diabetes or high blood pressure.
- Preventing birth defects - Take 400 micrograms (0.4 mg) of folic acid each day, a nutrient found in some green leafy vegetables, nuts, beans, citrus fruits, fortified breakfast cereals, and some vitamin supplements. Folic acid can help reduce the risk of birth defects of the brain and spinal cord (also called neural tube defects). If you have a family history of spina bifida, congenital heart defects (heart defects present in a newborn), or cleft lip/palate, your physician may prescribe extra folic acid based on your family history.
- Avoid exposure to alcohol and drugs during pregnancy - Be sure to inform your physician of any medications (prescription and over-the-counter) and/or herbal supplements you are currently taking -- all may have adverse effects on the developing fetus.
- Avoid exposure to harmful substances - Pregnant women should avoid exposure to toxic and chemical substances (i.e., lead and pesticides), and radiation (i.e., x-rays). Exposure to high levels of some types of radiation and some chemical and toxic substances may adversely affect the developing fetus.
- Infection control - Pregnant women should avoid the ingestion of undercooked meat and raw eggs. In addition, pregnant women should avoid all contact and exposure to cat feces and cat litter, which may contain a parasite toxoplasma gondii that causes toxoplasmosis. Other sources of infection include insects (i.e., flies) that have been in contact with cat feces and should be avoided during pregnancy. Toxoplasmosis can cause a serious illness in, or death of, the fetus. A pregnant woman can reduce her risk of infection by avoiding all potential sources of the infection. A blood test before or during pregnancy can determine if a woman has been exposed to the toxoplasma gondii parasite.
- Daily vitamins - Begin taking a prenatal vitamin daily, prescribed by your physician, to make certain that your body gets all the necessary nutrients and vitamins needed to nourish a healthy baby.
- Identifying domestic violence - Women who are abused before pregnancy may be at risk for increased abuse during pregnancy. Your physician can help you find community, social, and legal resources to help you deal with domestic violence.
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