Genetic Counseling
If you’re planning
your first pregnancy, you are probably not considering genetic
counseling. However, there may be circumstances in which genetic
counseling could help you and your partner make informed decisions about
having children.
Genetics is the study of how traits and characteristics are passed from parent to child through chromosomes and genes. Genetic counseling is an information session between you and your partner and a genetic counselor or group of counselors.
In actuality, the occurrence of birth defects is very
low—they occur in about 0.04% of all births. The primary goal in
genetic counseling is prevention and/or early diagnosis of these
problems. Certain groups have a higher incidence of problems, and
certain medications, chemicals and pesticides can put a couple at risk.
Genetic disorders may be caused in various ways. If you have an inherited disorder, it comes from your parents. A chromosomal disorder can happen even when parents don’t have any risk factors. Multifactorial disorders can occur from more than one source; the cause is generally unknown.
Genetic counseling
aims to help you and your partner understand what might happen in your
particular situation. A counselor won’t make decisions for you. He or
she will give you information on tests you might take and what test
results may mean. So don’t hide information you feel is embarrassing or
hard to talk about. It’s important to tell a counselor what he or she
needs to know.
Most couples who
need genetic counseling do not find out they needed it until after they
have a child born with a birth defect. You might consider genetic
counseling if any of the following apply to you.
• You will be at least 35 years old at the time of delivery.
• You have delivered a child with a birth defect.
• You or your partner have a birth defect.
• You or your
partner have a family history of Down syndrome, mental retardation,
cystic fibrosis, spina bifida, muscular dystrophy, bleeding disorders,
skeletal or bone problems, dwarfism, epilepsy, congenital heart defects
or blindness.
• You or your partner have a family history of inherited deafness.
• You and your partner are related (consanguinity).
• You have had recurrent miscarriages (usually three or more).
• You and
your partner are descended from Ashkenazi Jews. There is an increased
risk of Tay-Sachs disease, Canavan disease and other problems.
• You or your partner are Black/African American (risk of sickle-cell disease).
• Your partner is at least 40 years old.
Some
information may be difficult to gather, especially if you or your
partner are adopted. You may know little about your family’s medical
history. Discuss this with your healthcare provider before you get
pregnant. If you learn about the chances of problems before pregnancy,
you won’t have to make difficult decisions after you get pregnant.
Genetic Testing
Your genetic
counselor may talk about various tests with you. More than 1000
disorders can be detected using genetic tests, but most are rare. The
conditions regularly tested for include cystic fibrosis, Down syndrome,
neural-tube defects, thalassemia, Tay-Sachs and sickle-cell disease.
There are three types of tests that may be done—carrier testing, screening tests and diagnostic tests. Carrier testing involves testing both partners to determine if either or both is a carrier of a particular genetic defect. Screening tests
may be done during pregnancy to determine whether there is an increased
risk of a problem; it does not positively identify the problem. Diagnostic tests often determine whether a problem is present.
Pregnancy after 35
More women are
choosing to marry after they have established a career, and more couples
are choosing to start their families at a later age. Today, healthcare
providers are seeing more older first-time mothers; many have safe,
healthy pregnancies.
An
older woman considering pregnancy often has two major concerns. She
wants to know how the pregnancy will affect her and how her age will
affect her pregnancy. A pregnant woman older than 35 may face increased
risks of:
• a baby born with Down syndrome
• high blood pressure
• pelvic pressure or pelvic pain
• pre-eclampsia
• Cesarean delivery
• multiple births
• placental abruption
• bleeding and other complications
• premature labor
You
may find it easier to be pregnant when you’re 20 than it is when you’re
40. You may have a job or other children making demands on your time.
You may find it harder to rest, exercise and eat right. But these
concerns shouldn’t dissuade you from having children when you’re older.
Through medical
research, we know older women are at higher risk of giving birth to a
child with Down syndrome. Various tests may be offered to an older woman
during pregnancy to determine whether a baby will have Down syndrome.
It’s the most common chromosomal defect detected by amniocentesis.
The risk of
delivering a baby with Down syndrome increases as you get older. But
there’s a positive way to look at these statistics. If you’re 45, you
have a 97% chance of not having a baby
with Down syndrome. If you’re 49, you have a 92% chance of delivering a
child without Down syndrome. If you’re concerned about the risk of Down
syndrome because of your age or family history, discuss it with your
healthcare provider.
Research shows a
father’s age may be important. Chromosomal abnormalities that cause
birth defects occur more often in older women and in men over 40. Some
researchers recommend men father children before age 40, but there’s
still some controversy about this.
If you’re older, you can maximize your chances of having a successful pregnancy by being as healthy as possible before
you become pregnant. Most experts recommend a baseline mammogram be
done at age 40. Have this test before you become pregnant. Paying
attention to general recommendations for your diet and your health care
is also important in preparing for pregnancy.
Weight Management before Pregnancy
Most people feel
better and work better when they eat a well-balanced diet. Planning and
following a healthy eating plan before pregnancy helps provide your
growing baby good nutrition during the first few weeks or months of
pregnancy.
Usually
a woman takes good care of herself once she knows she’s pregnant. By
planning ahead, you can be sure baby has a healthy environment for the
entire 9 months of pregnancy, not for just the 6 or 7 months after you
find out you’re pregnant.
Weight Management
Some
researchers believe your weight may affect your chances of getting
pregnant. Being underweight or overweight can alter sex hormones, your
menstrual cycle, ovulation and may even affect the lining of your
uterus. Any of these can make it harder for you to get pregnant.
If you’re underweight,
your body may not produce enough hormones for you to ovulate every
month. You may also have problems getting the best nutrition for your
baby.
If you’re overweight,
don’t diet while you’re trying to conceive, and don’t take diet pills.
You may have a harder time getting pregnant if you’re overweight or
obese. Overweight is defined as having a body-mass index (BMI) between 26 and 30. Obesity is defined as having a BMI over 30.
Examine your eating
habits. Determine what you need to work on to make your food intake
healthy for you and baby. It may be very helpful to lose weight before
trying to get pregnant, which may help reduce pregnancy complications
and birth defects.
Consult your
healthcare provider if you’re thinking about starting a special diet to
lose or gain weight before you try to get pregnant. Dieting may cause a
drop in vitamins and minerals that both you and your developing baby
need.
If You’ve Had Weight-Loss Surgery
Some women have weight-loss surgery to help them lose weight. Bariatric surgery
is defined as surgery related to the prevention and control of obesity
and related diseases. Women who have had bariatric surgery have been
shown to have less-complicated pregnancies than obese women who don’t
have surgery, and their children are also less likely to be obese.
If
you had gastric-bypass surgery to lose weight, you may be at increased
risk of getting pregnant after the procedure. This happens because you
lose weight, which may lead to more-regular ovulation. This could result
in pregnancy.
If you plan to
become pregnant soon, having lap-band surgery may be your best choice.
Unlike gastric-bypass surgery, lap banding is fully reversible. It’s
possible to have your stomach outlet size opened so you can meet the
increased nutritional needs of pregnancy.
You
should probably delay getting pregnant for 12 to 18 months following
surgery because this is the time you will be losing weight very rapidly.
You may not have sufficient nutrients available for you and your
growing baby.
