Questions about Having a Baby or Genetic Tests

I am on prescribed medications for a chronic medical condition. Should I stop them all before I get pregnant or as soon as I have a positive pregnancy test?

Many women with chronic medical problems can have healthy babies, though the treatment of any specific medical condition needs to be managed individually. High-risk pregnancy specialists work closely with a patient's general obstetrician to provide coordinated care for women with preexisting medical conditions to maximize the outcomes for them and their babies. As a rule, women who are chronically maintained on a medication for their health should never abruptly stop that medication before consulting with their physicians.

Very few medications have been associated with an increased risk of birth defects, even when used in the first trimester of pregnancy. This is a very common and understandable concern of women and their doctors that often leads to needed medications being stopped unnecessarily. In general, women being treated for high blood pressure, depression or chronic infections can be safely treated throughout their pregnancies. To be certain, however, women who know that they have preexisting medical conditions should speak with their physicians before conceiving.

On occasion, a medication may need to be adjusted for pregnancy. Women on oral blood-thinning medications should be changed to a different anticoagulant prior to conception, for example. Our high-risk pregnancy staff offers pre-pregnancy counseling for all women with preexisting medical conditions to ensure the health of mother and baby before, during and after pregnancy.

I know that vaccination is an important part of ongoing healthcare. Are vaccines safe during pregnancy?

Not all vaccines are created equal, and many are safe to be given during pregnancy. Many vaccines today are produced using a "recombinant DNA" technology, meaning that they contain no infectious materials. The hepatitis B vaccine is a good example of this type, which can safely be started or continued during pregnancy if a woman is in a high-risk group for hepatitis B infection.

Other vaccines are produced by using killed viruses or proteins produced by a virus and are also non-infectious and safe during pregnancy. These include: tetanus, hepatitis A, pneumococcus (pneumonia), meningococcus (epidemic meningitis) and influenza (flu).

In particular, all women who will be in their second or third trimester during flu season should absolutely be given a flu shot, since pregnant women and their newborns have much higher rates of serious complications from the flu. The flu shot does NOT give a person the flu, despite commonly believed myths.

Vaccines that should be avoided during pregnancy are usually ones that most women will have received in childhood, since they are produced using live (but inactivated) viruses and theoretically could produce disease in the fetus. These include measles, German measles (rubella), mumps and varicella (chicken pox).

Women who are found not to be immune to chicken pox (this can be easily checked though a blood test) should be vaccinated against it at least three months before they get pregnant, since chicken pox is a more serious and preventable illness in pregnant adults.

Keep in mind that pregnancy should never be a barrier to optimal health. Most vaccines are safe during pregnancy, though any woman who is pregnant or thinking about getting pregnant should discuss these issues with her doctor before being vaccinated.

What is your cesarean rate?

The cesarean rate at Cedars-Sinai Medical Center is 22%. Cesarean rates vary according to hospital, physician and patient factors. Many conditions contribute to the cesarean rate, including maternal height, weight, medical conditions and the baby's birth weight. We are committed to achieving a safe outcome for you and your baby.

I had a cesarean section with my last baby. Should I attempt vaginal birth after cesarean (VBAC)?

The dictum "once a cesarean, always a cesarean" was the prevailing philosophy in obstetrics for more than 70 years. This concept began changing in the early ż80s when the National Institutes of Health convened a consensus panel on cesarean childbirth and noted the relative effectiveness and safety of vaginal birth after cesarean (VBAC).

Among women attempting VBAC, approximately 60 to 80% will have a successful outcome, but neither cesarean delivery nor trial of labor for VBAC is risk free. Patients who fail a trial of labor are at increased risk for infection, uterine rupture and operative complications. Rupture of the uterus can be life-threatening for both mom and baby and can be associated with transfusions, hysterectomy and birth of an infant that is neurologically impaired. These severe complications are rare, and a good rule of thumb for the risk of uterine rupture is less than 1% (0.2 to 1.5%).

Not everyone is a candidate for VBAC, and you should discuss this decision with your health care provider.

What about diabetes and pregnancy?

Women with diabetes should be closely monitored early in the pregnancy to make sure their blood sugar levels are at or near normal. If maternal blood sugar rises too high, the increased sugar crossing into the placenta can result in a large fetus, compromising delivery, with congenital defects or an infant with blood sugar level abnormalities. Diabetic women may also suffer from a greater loss of some nutrients. It is important to maintain tight control of blood sugar before and during pregnancy.

Gestational diabetes is a form of diabetes that begins during pregnancy and goes away after the birth of the baby. If you have gestational diabetes, you have a high amount of sugar in your blood. This form of diabetes can be controlled through diet, medication and exercise, but if left untreated, gestational diabetes can cause health problems for both you and your baby. It is also important to be tested for diabetes after the postpartum period to assess any carbohydrate intolerance while you are not pregnant. Early diagnosis and control helps prevent the long-term complications of diabetes.

Why is folic acid important for women?

Every year in the U.S., 4,000 pregnancies are affected by birth defects of the spine (spina bifida) and brain (anencephaly). Spina bifida is a defect of the spinal column that occurs during the first 28 days of pregnancy. It can lead to serious disabilities, such as paralysis in the feet and legs, incontinence, learning disabilities, and mental retardation. Babies with anencephaly do not develop a brain or only develop a partial brain. These babies die either before birth or shortly afterwards.

The Centers for Disease Control and Prevention estimates that up to 3,000 of these neural tube birth defects could be prevented each year if women consumed folic acid each day before pregnancy and during the early months of pregnancy. Since half of all pregnancies in the U.S. are not planned, many women may not find out that they are pregnant until well after the ideal time to prevent these birth defects. It is recommended that all women of childbearing age consume 0.4 mg of folic acid each day to prevent spina bifida and anencephaly.

Folic acid is important for women at every age because it helps prevent heart disease and stroke. However, too much folic acid can mask the symptoms of vitamin B12 deficiency, which affects one in five people ages 65 to 95 years. The recommended level of folic acid does not go above one mg per day.

Foods rich in folic acid are also those that help make up a healthy diet. These include grain products like bread, rice, pasta and breakfast cereals (which are now enriched with additional folic acid to comply with FDA standards). Dark green leafy vegetables, citrus fruits, most types of berries, dried peas, beans and lentils are also naturally rich in folic acid. Multi-vitamins recommended for pregnant women contain folic acid.

Is exercise safe during pregnancy?

Generally, exercise is safe during pregnancy, but consult with your doctor. The most comfortable exercises are the ones that do not require your body to bear extra weight. Swimming and stationary cycling can be continued throughout pregnancy. Walking and low-impact aerobics are usually well tolerated. You and your doctor should decide what is best for you and the baby. Be careful to avoid activities that increase your risk of falls or injury, such as contact sports or vigorous sports. Even mild injuries can be serious when you are pregnant. When the weather is hot, exercise in the early morning or late evening to help you avoid getting overheated. If you are exercising indoors, make sure the room has enough ventilation. Consider using a fan to help keep yourself cool. Drink plenty of fluids, even if you do not feel thirsty. Make sure you are eating a well-balanced diet. Normally, pregnancy increases your food requirements by at least 300 calories a day, even without exercise.

What is genetic counseling?

Genetic counseling helps pregnant women and their families understand the nature of genetic disease and its possible influence on their lives. For women undergoing prenatal testing, counseling is provided first. During counseling, a careful family genetic history is taken to check for risks of genetic defects in the fetus. In some cases, a patient may find that she is at great risk of having a baby with a disorder other than the disorder for which she wanted testing. Once the risks for genetic disorders are learned, the family is informed of the risks, benefits and limits of prenatal testing. When a pregnant woman knows the options open to her, she can choose a course of action based on her own family's needs and goals.

Should I consider prenatal testing?

If you fall into any of the following categories, you should consider prenatal testing:

Pregnant women who will be 35 or older at their due date
Families with a child or close relative who has a genetic problem, such as Down's syndrome
Families with a history of mental retardation, open defects of the spine (such as spina bifida) or other birth defects or inherited diseases
Patients with a history of two or more miscarriages or a history of infertility
Families in which both parents are carriers for an inherited disease, such as Tay-Sachs disease, sickle cell anemia or cystic fibrosis
Pregnant women who have male relatives with disorders like muscular dystrophy or hemophilia
Couples who are closely related to each other (blood relatives)
Pregnant women who have been exposed to drugs, X-rays or other agents that may be harmful to the fetus

What will I learn from prenatal testing?

This type of testing before birth can tell how well the fetus is doing in late pregnancy. Women who should have this type of testing are those who are at risk for having a poor pregnancy outcome, including:

Patients whose pregnancies have gone beyond their due date
Patients whose pregnancies show poor fetal growth
Patients who are expecting more than one birth at delivery
Patients with insulin regulated diabetes, hypertension or other medical conditions

Why is prenatal care important?

We believe that good prenatal care begins before pregnancy. There are four important components of preconception and prenatal care. First, the physician takes a complete history to identify any risk factors that may help predict potential high-risk conditions; for example, a family history and your own medical history may identify conditions requiring more extensive evaluations. Second, the physician performs a complete physical exam to determine if there are any conditions that could complicate your pregnancy. Third, the physician orders certain laboratory tests to help identify medical or infectious disease conditions that may require treatment to lessen the risk to you and your unborn child. Fourth, your healthcare provider provides education to help you develop a healthy lifestyle prior to and during your pregnancy; for example, taking folic acid prior to and during early pregnancy helps prevent birth defects.

Today many women work during pregnancy and learning how to reduce stress and fatigue at work may help you prevent complications, such as preterms delivery and hypertension. Practicing good nutrition and avoiding substances like tobacco and drugs all increase the likelihood of a successful pregnancy.

What types of prenatal testing and screening are available?

A number of different types of prenatal testing and screening are now available. To learn more about the tests, visit the section on Reproductive Genetics. Some of the tests available include:

Amniocentesis, in which a small amount of the fluid surrounding the fetus is removed and analyzed. An amniocentesis is usually done between 16 to 20 weeks of pregnancy. An early amniocentesis can be done between 13 and 14 weeks of pregnancy.
Chorionic villi sampling, which tests tissue from the placenta to find genetic defects in the fetus in early pregnancy. This test can be used to detect almost all disorders that can be found by amniocentesis except neural tube defects, such as spina bifida. This test is usually done between 10 and 12 weeks of pregnancy.
Ultrasound, which uses sound waves to make an image of the fetus. It can also be a helpful tool during other tests, such as amniocentesis and chorionic villi sampling. This test helps to check the age, growth, anatomy and health of the fetus, identify the causes of bleeding during pregnancy, check the position of the feturs and find out the number of babies the patient will have.
Expanded alpha-fetoprotein (AFP) genetic testing, which uses a protein made by the liver to detect birth defects like Down syndrome, trisomy 18 (a defect that causes severe deformity and mental retardation) and open neural tube defects, such as spina bifida.

What causes a woman to have a preterm birth?

A preterm birth is the delivery of an infant prior to 37 weeks (term = 40 weeks). Generally there are three types of preterm births. First, approximately 1/3 of preterms births are spontaneous with few warning signs; these are associated with certain risk factors, such as urinary track and vaginal infections, psychosocial stress and work-related stress resulting in fatigue. Second, in about 1/3 of cases preterm birth occurs when the amniotic fluid membranes rupture early, usually secondary to an infection that has ascended into the uterus from the vagina and weakened the membranes. Third, approximately 1/3 of cases are early elective deliveries because of maternal medical or fetal conditions that require early delivery to prevent serious maternal or fetal complications.

Will my baby have a birth defect?

Approximately 3% of all live births have a birth defect, some minor and some very severe. About half of those will have a chromosomal defect that can be detected by CVS or amniocentesis. BUN screening and Expanded MSAFP screening aids detection of chromosomal abnormalities. The other 50% of newborns with birth defects may or may not have a structural abnormality that can be detected by ultrasound. We believe that the detection rate of structural abnormalities by ultrasound is very good, and approximately 60% of abnormalities can be detected. Therefore, with appropriate prenatal screening, the incidence of undetected birth defects is a little less than 1%.

Should I be screened for cystic fibrosis? Will I be a carrier?

Individuals from different ethnic groups have different risks for being carriers of diseases, especially cystic fibrosis. Those individuals of Northern European descent and Ashkenazi Jewish descent have a 4% chance of being carriers. If both parents are carriers, then the risk of having an affected child is 25%.

I am of Eastern European (Ashkenazi) Jewish decent. Should I be worried about genetic diseases?

A number of recessive diseases occur more often, though not exclusively, in Ashkenazi Jews (people of Eastern European Jewish decent). These include Tay-Sachs and Canavan disease, both of which can be screened by a simple blood test.

Tay-Sachs is an illness in which the condition of the nerves grows worse over time. It is caused by the lack of an enzyme. Symptoms first appear at the age of six months, followed by death at the age of five to eight years of age. Tay-Sachs disease most often appears in families with no history of the disease.

Canavan disease also causes the nerves to deteriorate over time and is caused by the lack of an enzyme. Symptoms include slow growth, poor muscle control and a large head. Children with this disease appear normal at birth but die by the time they are in their teens.