Birth Defects

A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.

A birth defect may affect how the body looks, works or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. To find others, like heart defects, doctors use special tests. Birth defects can range from mild to severe. Causes can include

  • Genetics
  • Exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome.
  • Infections during pregnancy
  • Certain medicines. Before you get pregnant, talk to your health care provider about any medicines you take.
  • Not getting enough of certain nutrients. For example, not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects.

For most birth defects, the cause is unknown.

Health care providers can diagnose certain birth defects during pregnancy, with prenatal tests. That's why it important to get regular prenatal care. Other birth defects may not be found until after the baby is born. Sometimes the defect is obvious right away. Other times, the health care provider may not discover it until later in life.

Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies.

No health feed found.

When a baby is born with a birth defect, the first question usually asked by the parents is "how did this happen?" Sometimes, this question cannot be answered. This can be very upsetting for parents because it is normal to seek an answer as to why your baby has a health problem. For some birth defects, however, there is a known cause, which may have to do with either genetic or environmental factors, or a combination of the two. Here is some general information and terms related to the different causes of birth defects:

  • Inheritance. Inheritance is a word used to describe a trait given to you or "passed on" to you from one of your parents. Examples of inherited traits would be your eye color or blood type.
  • Chromosome abnormalities. Chromosomes are stick-like structures in the center of each cell (called the nucleus) that contain your genes.
  • Single gene defects. Genes are what determine your traits. Sometimes, a child can inherit not only those genes responsible for their normal traits such as the color of their eyes, but also disease causing genes that result in a birth defect.
  • Multifactorial inheritance. Multifactorial inheritance means that "many factors" (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental.
  • Teratogens. A teratogen is an agent, which can cause a birth defect. It is usually something in the environment that the mother may be exposed to during her pregnancy. It could be a prescribed medication, a street drug, alcohol use, or a disease that the mother has, which could increase the chance for the baby to be born with a birth defect.

The risk of an infant having a birth defect varies according to the mother’s age and the medical history of both parents. Women less than 35 years of age at delivery with no personal or family history of birth defects are at low risk. At your initial prenatal visit, your doctor will evaluate your risk of having a baby with a birth defect. You should also receive information about the available tests for further evaluating your risk. Despite the absence of risk factors, some low-risk women do have babies with birth defects.Prenatal screening tests are used to assess the risk of having an infant with a birth defect in women with low risk. Diagnostic tests help confirm or exclude the presence of birth defects before delivery in women with increased risk.

If a genetic or other problem is present, you and your medical caregivers should discuss your options. These problems can influence how you deliver your baby (C-section), where you deliver (in a hospital with a newborn intensive care unit), and who will be present at delivery (pediatric specialists).

Many birth defects can be diagnosed before birth with special tests (prenatal diagnosis). Chromosomal abnormalities such as Down syndrome can be diagnosed before birth by analyzing cells in the amniotic fluid or from the placenta. Fetal ultrasound during pregnancy can also give information about the possibility of certain birth defects, but ultrasound is not 100 percent accurate, since some babies with birth defects may look the same on ultrasound as those without problems. A chromosome analysis, whether performed on a blood sample or cells from the amniotic fluid or placenta, is very accurate.

Tests that help screen for birth defects include the following:

  • Alpha-fetoprotein. This blood test measures the levels of alpha-fetoprotein (AFP), a protein released by the fetal liver and found in the mother's blood. AFP is sometimes called MSAFP (maternal serum AFP). AFP screening may be included as one part of a two, three, or four-part screening, often called a multiple marker screen. The other parts may include the following:
    • HCG. Human chorionic gonadotropin (hCG) is a hormone secreted by the early placental cells. High hCG levels may indicate a fetus with Down syndrome (a chromosomal abnormality that includes intellectual disability and distinct physical features).
    • Estriol. A hormone produced by the placenta and by the fetal liver and adrenal glands. Low levels may indicate a fetus with Down syndrome.
    • Inhibin. A hormone produced by the placenta.
  • Nuchal translucency screening. An ultrasound test usually performed in the late first trimester. Thickening of the area at the back of the fetal neck may indicate an increased risk for Down syndrome or other chromosomal problems.
  • Chorionic villus sampling (CVS). A prenatal test that involves taking a sample of some of the placental tissue. This tissue contains the same genetic material as the fetus and can be tested for chromosomal abnormalities and some other genetic problems. Testing is available for other genetic defects and disorders depending on the family history and availability of laboratory testing at the time of the procedure. In comparison to amniocentesis (another type of prenatal test), CVS does not provide information on neural tube defects, such as spina bifida. For this reason, women who undergo CVS also need a follow-up blood test between 16 to 18 weeks of their pregnancy, to screen for neural tube defects.
  • Amniocentesis. A procedure used to obtain a small sample of the amniotic fluid that surrounds the fetus to diagnose chromosomal disorders and open neural tube defects (ONTDs), such as spina bifida. Testing is available for other genetic defects and disorders depending on the family history and availability of laboratory testing at the time of the procedure. The American College of Obstetricians and Gynecologists recommends amniocentesis around 15 weeks to 20 weeks of pregnancy for those women who are at increased risk for chromosome abnormalities, such as women who are over age 35 years of age at delivery, or those who have had an abnormal maternal serum screening test, indicating an increased risk for a chromosomal abnormality or neural tube defect. However, in some situations, amniocentesis may be performed as early as 14 weeks.
  • Ultrasound. A diagnostic technique that uses high-frequency sound waves to create an image of the internal organs. Many birth defects can be detected with ultrasound.

Sometimes, birth defects are not diagnosed until physical examination of the baby after birth. To confirm the physical findings, a small blood sample can be taken and the chromosomes can be analyzed. This information is important in determining the risk for that birth defect in future pregnancies.

Treatment options vary depending on the condition and level of severity. Some birth defects can be corrected before birth or shortly after. Other defects, however, may affect a child for the rest of their life. Mild defects can be stressful, but they don’t typically affect overall quality of life. Severe birth defects, such as cerebral palsy or spina bifida, can cause long-term disability or even death. Speak with your doctor about the appropriate treatment for your child’s condition.

Medications: Medications may be used to treat some birth defects or to lower the risk of complications from certain defects. In some cases, medication may be prescribed to the mother to help correct an abnormality before birth.

Surgeries: Surgery can fix certain defects or ease harmful symptoms. Some people with physical birth defects, such as cleft lip, may undergo plastic surgery for either health or cosmetic benefits. Many babies with heart defects will need surgery, as well.

Home care: Parents may be instructed to follow specific instructions for feeding, bathing, and monitoring an infant with a birth defect.

Many birth defects can’t be prevented, but there are some ways to lower the risk of having a baby with a birth defect. Women who plan to become pregnant should start taking folic acid supplements before conception. These supplements should also be taken throughout the pregnancy. Folic acid can help prevent defects of the spine and brain. Prenatal vitamins are also recommended during pregnancy. Women should avoid alcohol, drugs, and tobacco during and after pregnancy. They should also use caution when taking certain medications. Some medications that are normally safe can cause serious birth defects when taken by a pregnant woman. Make sure to tell your doctor about any medications you may be taking, including over-the-counter drugs and supplements. Most vaccines are safe during pregnancy. In fact, some vaccines can help prevent birth defects. There is a theoretical risk of harm to a developing fetus with some live-virus vaccines, so these kinds should not be given during pregnancy. You should ask your doctor which vaccines are necessary and safe. Maintaining a healthy weight also helps reduce the risk of complications during pregnancy. Women with pre-existing conditions, such as diabetes, should take special care to manage their health. It’s extremely important to attend regular prenatal appointments. If your pregnancy is considered high risk, your doctor can do additional prenatal screening to identify defects. Depending on the type of defect, your doctor may be able to treat it before the baby is born.

Share Your Opinion

Please fill the details


Did you find this helpful?

Your feedback will help us improve the product

Disclaimer :

The texts and materials and any other information published on this site serve a purely informative purpose, and have no official or legal status in the form they are published here. We do not guarantee any authenticity to the information provided here, kindly confirm the exactness of the content published here from relevant sources before you act on any information provided on this site.

Check your area pincode

Sorry, right now we are not available in your area

Send Your Message


or

By signing up, I agree to terms