What is a birth defect?
A birth defect is a congenital abnormality of structure, function or body chemistry present before birth or after birth that results in physical or mental disabilities. There are certain birth defects that are treatable immediately or shortly after birth and some birth defects that are fatal. Many babies born with a birth defect are born to healthy parents, and a woman can do everything her doctor recommends and still deliver a baby with a birth defect. Some birth defects can occur when the mother gets an infection before or during pregnancy, like rubella (German measles), syphilis, and rarely, chicken pox. There are over 3,000 different know birth defects.
How is a birth defect diagnosed?
All pregnant women are routinely given an AFP (alpha-fetoprotein) blood test. This test helps diagnose if a risk of a birth defect is present in your baby in utero. Other test might be offered if your medical history, family history, or if a question arises in one of your monthly examinations about the health of your baby. The following are some of the other tests that are done to check if your baby has a birth defect:
• Ultrasound Screening
This test is done at any time during pregnancy and usually part of your monthly check-up
• Multiple Marker Screening
This test is used to find out if your baby has a risk of having neural tube defects like spina bifida or anencephaly, abdominal wall defects, Down syndrome (trisomy 21) or Edward's Syndrome (trisomy 18).
• First Trimester Screening
This screening test is done around your 10th and 14th weeks of pregnancy. It combines the results of a special ultrasound test called nuchal translucency screening and certain blood tests called PAPP-A and hCG (pregnancy-associated plasma protein A and human chorionic gonadotropin) to look for signs of Down syndrome (trisomy 21), Edward's Syndrome (trisomy 18) and heart defects.
• Chorionic Villus Sampling – (CVS)
This test can help identify chromosomal problems such as Down syndrome (Trisomy 21), cystic fibrosis, Tay-Sachs disease and sickle cell anemia in your baby.
• Amniocentesis
This test is done around your 15th and 20th weeks of pregnancy. This test looks for certain types of birth defects, such as, Patau Syndrome (trisomy 13), Edward's Syndrome (trisomy 18), Down syndrome (trisomy 21), and other chromosomal abnormality.
• Fetal Blood Sampling – (FBS)
This test checks for signs of anemia and other blood problems, such as your babys red blood cell count and oxygen level, and also check to see if your immune system is destroying your babys red blood cells. This test is also known as cordocentesis or percutaneous umbilical cord blood sampling.
• Carrier Screening
Carrier screening is done to see if a couple carries a defective gene that is passed on to their baby as an inherit birth defect. Some inherited birth defects are more frequent in certain ethnic groups like sickle cell disease, Tay-Sachs disease and cystic fibrosis.
Can a birth defect be prevented?
There are many steps a woman can take to prevent her risk of having a baby with a birth defect. The first and most important step is before you even become pregnant, make sure you are aware of any family history of birth defects, on both you and your partner's side. If there is a history of birth defects, or you are considered a high risk because of age, ethnic background, or health problems, you can receive genetic counseling and testing to help you and your partner in planning prior to your pregnancy. Because about half of all pregnancies are unplanned, it is very important that all women in their childbearing years maintain a healthy lifestyle. Most women don’t find out they are pregnant until after their baby’s brain and spine have already formed. Some other preventions are:
• Make sure you have had all your immunizations
• Make sure neither you nor your partner has a sexually transmitted disease
• Avoid cigarette smoking
• Avoid drugs
• Avoid alcohol
Your diet is also important before and during pregnancy. It has been proven that taking a recommended daily dose of folic acid, found in foods such as leafy green vegetables, beans, and orange juice can actually prevent up to 50% to 70% of neural tube defects such as spina bifida or anencephaly. Other birth defects such as cleft lip and palate and certain congenital heart defects can also be prevented by taking folic acid. Doctors recommend that all women of childbearing age receive 400 micrograms of folic acid every day. While many foods are now fortified with folic acid, two-thirds of women here in the U.S. still do not consume enough folic acid in their diet. To ensure you and your baby get’s the correct amount of important vitamins and minerals needed while being pregnant, your doctor will prescribe prenatal vitamins that should be taken everyday. If you need to take any medications on a daily basis, check with your doctor to be sure they are okay to take during pregnancy. Regular exercise and plenty of rest also contribute to a healthy pregnancy. The following are some other foods that should be eaten during your pregnancy that are enriched in folic acid:
• Spinach • Collard greens
• Turnip greens • Romaine lettuce
• Broccoli • Asparagus
• Beans • Peanuts
• Strawberries • Kiwi
• Liver • Many breakfast cereals
• Enriched breads • Pasta
• Rice
Omega-3 fatty acid (DHA) is also essential to assist in your baby's brain and eye development. A pregnanat woman needs about 250 mg of DHA daily during pregnancy, but very few are getting it. It has been recommended that pregnant women eat up to 12 ounces (two average meals) a week of a variety of fish and shellfish that are low in mercury, such as shrimp, canned light tuna, salmon, pollock, and catfish. Eggs are also a good source of DHA. You can also ask your doctor about DHA supplements that can be taken along with your prenatal vitiams.
