Birth defects are far more common than many people think: according to the March of Dimes, around 1 in every 33 babies born in America will have some sort of birth defect. These conditions can range from mild to severe — and even to fatal. Read on to learn more about birth defects — as well as how they can be treated or prevented.
What is a Birth Defect?
If a baby develops problems with the structure, function or formation of its limbs, organs or chemical processes while it is still growing in the uterus, these problems are considered to be birth defects. There are more than 4,000 separate kinds of birth defects and most of them happen during the first trimester (the first three months of pregnancy).
What Kinds of Birth Defects are There?
While there thousands of possible birth defects that a baby can be born with, most of them fit into a few broad, general categories:
- Structural defects, which interfere with the structure or function of organs or limbs and can include heart defects, cleft palates, clubfoot, and spina bifida, among others.
- Chemical or metabolic defects, which interfere with the way the body metabolizes or carries out other chemical processes; examples of this include Tay-Sachs disease or phenylketonuria (PKU).
- Chromosomal defects, which stems from mistakes or errors in a baby’s genetic material; the most common chromosomal disorder in America is Down syndrome.
What Causes Birth Defects?
Since there is such a wide variety of birth defects, it is probably not surprising that there are also a wide number of causes. These can include:
- Genes that parents are carriers for and that they pass down to their children (like Tay Sachs)
- Maternal substance abuse (which causes Fetal alcohol syndrome, or FAS)
- Maternal infection during pregnancy (which can cause Rubella syndrome)
- Low levels of maternal nutrients such as folic acid during pregnancy (this can lead to spina bifida or other neural tube defects).
It is important to note, however, that there is no known cause for some birth defects and that they can happen in otherwise healthy parents with no family history of defects. Mothers who eat right and strive in other ways to have a health pregnancy can reduce the chances of these defects, but no one can eliminate them altogether.
Signs and Symptoms of Birth Defects
In general, signs and symptoms from birth defects will range from mild to severe. Some birth defects such as a cleft palate are obvious while other, such as mild heart defects, may take much longer to be diagnosed and might need imaging or other tests to do so. Some examples of signs and symptoms related to various birth defects include:
- Atrial septal defect, or a hole in the wall between the two upper chambers of the heart, which can cause fatigue, shortness of breath (especially with activity) and even pale or bluish skin.
- Fetal alcohol syndrome, which can cause facial deformities and cause babies to have a “simian” appearance to their features.
- Phenylketonuria, which can cause mental retardation if babies are breastfed or use dairy-based formulas.
- Pyloric stenosis, a narrowing of the entrance to the stomach which can cause babies to projectile vomit after feeding.
In short, possible symptoms can vary widely depending on the specific defect.
Diagnosing a Birth Defect
Defects can be diagnosed at different stages in the baby’s life and diagnosis can be based on any of the following:
- Reported signs and symptoms
- A physical exam of the baby
- Bloodwork
- Genetic testing
- Imaging tests
Some babies are diagnosed with a birth defect before they are ever born, during the course of prenatal testing and care. This can be done through procedures like ultrasound or through chorionic villus sampling or amniocentesis while the mother is still pregnant and this can uncover the possibility of neural tube defects, Down syndrome, PKU or a cleft palate, among others.
Some babies are diagnosed when they are born. The disorders that doctors must test for by law vary from state to state, but as of this year, all states will test for PKU, hypothyroidism, sickle cell anemia and up to 30 other possible disorders.
Some babies will be diagnosed with a birth defect sometime after birth at one of their Well Baby check-ups, such as a baby who might be diagnosed with a heart defect if her doctor hears a murmur when he is listening to her heart.
If a birth defect does not carry obvious signs and symptoms, however, a child might not be diagnosed until they have grown up, as is often the case with very mild heart defects.
Treating Birth Defects
Some birth defects, such as mild heart defects, require no other treatment than monitoring and do not greatly affect a child’s health or quality of life. Others require:
- Surgery (which is used to treat some severe heart defects or a cleft palate; sometimes surgery will take place before the baby is even born)
- Medications, such as synthroid for congenital hypothyroidism
- Lifestyle changes (such as avoiding foods with phenylamine, as is the case for those with PKU)
Prevention of Birth Defects
It is important for parents to understand that some birth defects cannot be prevented: they appear to stem from random accidents that occur in the DNA when the egg is fertilized at the very beginning of a pregnancy. However, there are some ways in which women can reduce the chances of certain defects, including:
- Regular, high-quality prenatal care. Going in regularly to the ob-gyn is the single biggest predictor of a healthy mom and baby.
- Avoiding alcohol, tobacco and drugs during pregnancy.
- Reviewing medications with a doctor and only taking those which are doctor-approved.
- Eating a healthy, balanced diet.
- Taking a prenatal vitamin with adequate amounts of folic acid, iodine and other important nutrients
- Getting genetic tests and counselling, especially if there is a history of birth defects or other medical issues in the family
- Keeping up with immunizations, especially for illnesses like varicella and rubella which can cause birth defects
- Getting tested and treated for sexually transmitted diseases if any are suspected
In short, birth defects cover an incredibly wide range of potential problems ranging from the almost undetectable to the fatal and the symptoms of these birth defects — as well as how they are treated — will vary widely, too. It is also important to note that, while some birth defects can be prevented, many other cannot, even if a mother follows a health, baby-safe lifestyle during pregnancy. The good news is that for many birth defects, treatments are available which can help improve signs and symptoms and general quality of life.
