This is looked at in a lab to find chromosome problems. This is important so the parents know the risk for that birth defect in future pregnancies. There is no cure for birth defects. But children can often be treated to help reduce problems. It will also depend on how severe the condition is. Children may benefit from surgery, medicines, physical or occupational therapy, education intervention, and other types of help.
Possible complications vary widely by type of birth defect. They may include 1 or more of the following:. Researchers are trying to find ways to prevent many birth defects. Not all birth defects can be prevented. There are only a few ways currently known to help prevent certain defects. Taking steps to be healthy before and during pregnancy is important. Getting vaccinated against certain infections such as rubella can prevent birth defects caused by that infection.
Not drinking during pregnancy can prevent birth defects caused by alcohol. Taking a prenatal vitamin that includes folic acid can help prevent neural tube defects such as spina bifida. If your baby is born with a birth defect, you can do certain things to take care of yourself and your baby:.
Your child may receive care from a multidisciplinary team. This team may include counselors, social workers, clergy, genetic counselors, dietitians, physical therapists, and speech therapists. Ask for support from local community services. This may include your faith community and organizations that specialize in birth defects, such as the March of Dimes.
A birth defect is a health problem or abnormal physical change that is present when a baby is born. Birth defects range from very mild to life-threatening and limiting. Your healthcare provider will talk with you about testing. Your provider can tell you more about your risk of having a child with a birth defect. At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests.
Also write down any new instructions your provider gives you for your child. Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are. It also may find trisomy 13, which causes intellectual disability and heart defects, among other problems. This test is an option for women who are at high risk for having a baby with certain genetic conditions. But it can't help find other birth defects, such as neural tube defects. It's not used as a general screening test.
And it's not available everywhere. Second-trimester screening—done between 15 and 22 weeks of pregnancy—can be used to look for Down syndrome and neural tube defects. Sometimes doctors will look at the combined screenings that you've had over a period of time. This is called an integrated screening. First-trimester screening nuchal translucency combined with blood tests correctly finds Down syndrome in 82 to 87 out of fetuses that have it.
This also means that these tests miss it in 13 to 18 out of fetuses. An ultrasound can find neural tube defects up to 96 out of times. But ultrasound isn't as good at finding Down syndrome or genetic diseases. The quad screen finds 75 out of fetuses with neural tube defects. The quad test finds Down syndrome almost 81 out of times.
The integrated screening test first-trimester tests plus the quad screening in the second trimester correctly finds Down syndrome in about 95 out of fetuses who have it. Normal results tell you that there is no need for more tests unless you have another concern, such as a known genetic disease in your family. Positive results tell you that there is a higher-than-average chance of a birth defect.
You will be offered a diagnostic test, such as chorionic villus sampling CVS or amniocentesis, to find out for sure if there is a problem. If a birth defect is found, you decide where to go from there.
You may choose to learn all you can about raising a child with Down syndrome or a birth defect. Or you may decide to end the pregnancy. With the blood tests, there is little or no physical risk. A fetal ultrasound has no known risks.
Having tests may make you worry. There is a chance that the test could show that there's a problem when there isn't one. This is called a false-positive test result. Or the test could miss a problem. This is a false-negative test result. A positive result meaning there could be a problem could lead you to have a diagnostic test, which has a small risk of causing a miscarriage.
But most women have normal test results. Even when the test result is positive, most pregnancies turn out to have no problems. If you don't have a screening test to diagnose a birth defect, your baby could have a problem that you don't find out about until birth. These stories are based on information gathered from health professionals and consumers.
They may be helpful as you make important health decisions. I know that I'm at a higher risk of having a baby with Down syndrome because of my age. My husband and I don't have any risk factors for having a child with other birth defects. If the screening tests weren't available, I would probably have an amniocentesis even though it has some risks. But since I can have the screening tests, I've decided to start with that and then make a decision about amniocentesis based on the results. I'm not really worried about things like birth defects that might or might not happen.
I don't have any risk factors for having a baby with a birth defect. And I know a lot of women who have had amniocentesis and other tests who spent a lot of time worrying, only to have healthy, normal babies. I feel like the best thing I can do is take good care of myself, stay alert for any signs that there is a problem, and enjoy my pregnancy.
My neighbor had her first baby at our rural community hospital. The baby had spina bifida, and they rushed her by ambulance to the nearest city and then by helicopter to a center that treats babies with this problem. My neighbor had to follow her later on and so was away from her baby at a really traumatic time. It was such a scary experience for her. I am definitely going to have the screening tests and find out my risk of having a baby that needs special care so we can plan ahead.
My husband and I want to have the most definitive information possible to make decisions about my pregnancy. So we are going to start with the chorionic villus sampling. I know it's a little more risky, but we feel like we need as much information as early as we can get it.
It took us a little longer than we expected to become pregnant. If there is any chance that the fetus has a birth defect, we want to know that as soon as we can so we can make the best decision for us about whether to continue this pregnancy or end it and give ourselves a chance to try again.
Your personal feelings are just as important as the medical facts. Think about what matters most to you in this decision, and show how you feel about the following statements. Knowing that there's a problem wouldn't change my birth or parenting plans. I'm not worried that the test could show a problem when there isn't one. I'd rather have CVS or amniocentesis to find out for sure if there's a problem. Now that you've thought about the facts and your feelings, you may have a general idea of where you stand on this decision.
Show which way you are leaning right now. A baby born with Trisomy 18 has 3 copies of chromosome 18 instead of the usual 2 copies.
The condition occurs in about 1 in 2, pregnancies. Babies with Trisomy 13 have 3 copies of chromosome 13 instead of the usual 2 copies. Trisomy 13 occurs in about 1 in 4, pregnancies. Babies with either Trisomy 13 or Trisomy 18 usually miscarry or, if they are born, rarely live longer than the first month. A neural tube defect occurs when the tube does not fully develop. Spina bifida occurs when the tube does not completely close along the spine. Other neural tube defects include anencephaly and encephalocele in which the brain and skull do not develop properly.
In Australia, about 1 in every pregnancies is affected by a neural tube defect each year. Taking the vitamin folate before and during pregnancy reduces the risk of your baby having a neural tube defect. A screening test can show if your baby is at increased risk of a birth defect. Different screening tests are available in the:. The tests do not give a definite diagnosis but will tell you if your baby is at an increased risk of having a chromosomal condition, such as Down syndrome.
The results may then help you decide if you want to have a diagnostic test. A diagnostic test can confirm if your baby has a chromosomal condition or neural tube defect and is very accurate.
When there is a health problem with a child, the primary care provider might look for birth defects by taking a medical and family history, doing a physical exam, and sometimes recommending further tests. If a diagnosis cannot be made after the exam, the primary care provider might refer the child to a specialist in birth defects and genetics.
A clinical geneticist is a doctor with special training to evaluate patients who may have genetic conditions or birth defects. Even if a child sees a specialist, an exact diagnosis might not be reached. Skip directly to site content Skip directly to page options Skip directly to A-Z link. Birth Defects. Section Navigation. Facebook Twitter LinkedIn Syndicate. Diagnosis of Birth Defects. Minus Related Pages.
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