The vast majority of babies delivered have no abnormalities but, unfortunately, a small percent of babies are born with birth defects. It has been known for some time that birth defects, also known as congenital anomalies, are a major cause of illness and disability including infant mortality. The widespread use of fetal ultrasound scans have allowed doctors to detect many of these birth defects, but some are still only discovered after birth. We know that not all birth defects can be prevented, but we also know that women can increase their chances of having a healthy baby by managing health conditions and adopting healthy behaviors before becoming pregnant.
What is a birth defect?
A birth defect is a problem that occurs when a fetus is developing in utero (in the womb). Birth defects can be minor or severe. They may affect appearance, organ function, and physical and mental development. Most birth defects are present within the first three months of pregnancy when the organs are still forming. Some birth defects are harmless while others require long-term medical treatment. Severe birth defects are the leading cause of infant deaths in many countries.
What causes birth defects?
The exact causes of many birth defects are often unknown. The two main factors associated with an increased risk of babies being born with a birth defect are: being born to an older mother and being born to parents who are blood relations.
Many clinicians agree that birth defects can be the result of the following:
• genetics
• lifestyle choices and behaviours
• exposure to certain medications and chemicals
• infections during pregnancy
• a combination of these factors
Nongenetic causes
The causes of some birth defects can be difficult or impossible to identify. However, certain behaviours greatly increase the risk of birth defects. These include smoking, using illegal drugs, and drinking alcohol while pregnant. Other factors, such as exposure to toxic chemicals or viruses, also increase risk.
What are the risk factors for birth defects?
All pregnant women have some risk of delivering a child with a birth defect. The risk of having a baby with a birth defect increases under any of the following conditions:
• family history of birth defects or other genetic disorders
• drug use, alcohol consumption, or smoking during pregnancy
• maternal age of 35 years or older
• inadequate prenatal care
• untreated viral or bacterial infections, including sexually transmitted infections
• use of certain high-risk medications such as isotretinoin and lithium
Women with pre-existing medical conditions, such as diabetes, are also at a higher risk of having a child with a birth defect.
What are some common birth defects?
Birth defects can be classified as structural or functional and developmental.
Structural defects are when a specific body part is missing or malformed. The most common structural defects are:
• heart defects
• cleft lip or palate, when there’s an opening or split in the lip or roof of the mouth
• spina bifida, when the spinal cord doesn’t develop properly
• clubfoot, when the foot points inward instead of forward
Functional or developmental birth defects occur when an organ or system does not work properly. These often cause disabilities of intelligence or development. Functional or developmental birth defects include metabolic defects, sensory problems, and nervous system problems.
The most common types of functional or developmental birth defects include:
• Down syndrome which causes delay in physical and mental development
• sickle cell disease which occurs when the red blood cells become misshapen
• cystic fibrosis which damages the lungs and digestive system
How are birth defects diagnosed?
Although some birth defects can be diagnosed during pregnancy, many are often not diagnosed until after birth – sometimes as long as weeks or months after delivery.
Healthcare professional can use prenatal ultrasounds to help them diagnose certain birth defects in utero. Other tests can be done in high risk patients as well.
All newborn infants have a physical examination shortly after birth – and this might also help the doctor diagnose a birth defect. A blood test called the newborn screen can help doctors diagnose some birth defects shortly after birth, before symptoms occur.
Parents should remember that despite all the screening tests done some birth defects might not be detected. A screening test can also falsely identify defects. However, most birth defects can be diagnosed with certainty after birth.
Treatment of birth defects
Treatment options vary depending on the condition and level of severity. Some birth defects can be corrected before birth or shortly after. Mild defects can be stressful, but they do not typically affect overall quality of life. Severe birth defects, such as cerebral palsy or spina bifida, can cause long-term disability or even death. Parents should have an open and honest discussion with their doctor about the appropriate treatment for their child’s condition.
How to prevent birth defects?
Many individuals often ask their doctor if there are ways to prevent birth defects. Many birth defects cannot be prevented, but there are some ways to lower the risk of having a baby with a birth defect. The following might prove helpful:
See your doctor – All women planning a pregnancy should see their doctor months before becoming pregnant. A woman should plan ahead – your doctor might recommend use of folic acid. Folic acid is a B vitamin. If a woman has enough folic acid in her body at least one month before and during pregnancy, it can help prevent major birth defects of the developing brain and spine (anencephaly and spina bifida).
There are many unplanned pregnancies in Anguilla, but I would encourage women planning a pregnancy to see an obstetrician/gynaecologist before pregnancy, and they should start prenatal care as soon as they think that they are pregnant. It is important to see the doctor regularly throughout pregnancy, and the pregnant woman should keep all her prenatal care appointments. If you are trying to have a baby, or are just thinking about it, it is not too early to start planning for pregnancy.
Avoid harmful substances – Women are encouraged to avoid alcohol at any time during a pregnancy. Alcohol in a woman’s bloodstream passes to the developing baby through the umbilical cord. There is no known safe amount of alcohol use during pregnancy or while trying to get pregnant. There is also no safe time during pregnancy to drink. All types of alcohol are equally harmful, including wine and beer. Drinking alcohol during pregnancy can cause miscarriage, stillbirth, and a range of lifelong physical, behavioural, and intellectual disabilities. These disabilities in the child, which occur because the mother drank alcohol during pregnancy, are known as fetal alcohol spectrum disorders (FASDs).
Avoid smoking cigarettes – The dangers of smoking during pregnancy include preterm birth, certain birth defects (cleft lip or cleft palate), clubfoot, missing limbs and infant death. Even being around tobacco smoke puts a woman and her pregnancy at risk for problems. Quitting smoking before getting pregnant is best. For a woman who is already pregnant, quitting as early as possible can still help protect against some health problems for the baby, such as low birth weight. It is never too late to quit smoking.
Avoid marijuana and other drugs – A woman who uses marijuana or other drugs during pregnancy can have a baby who is born preterm, of low birth weight, or has other health problems such as birth defects. Marijuana is the illicit drug most commonly used during pregnancy. Since we know of no safe level of marijuana use during pregnancy, women who are pregnant, or considering becoming pregnant, should not use marijuana.
Keep diabetes under control – Poor control of diabetes during pregnancy increases the chances of birth defects and other problems for the pregnancy. It can also cause serious complications for the woman.
Talk to a healthcare provider about taking any medications. We know that certain medications can cause serious birth defects if they are taken during pregnancy. For many medications taken by pregnant women, the safety has been difficult to determine. Despite the limited safety data, some medications are needed to treat serious conditions. If a woman is pregnant, or planning a pregnancy, she should not stop taking medications she needs or begin taking new medications without first talking with her healthcare provider. This includes prescription and over-the-counter medications – and dietary or herbal products.
Genetic counseling
A genetic counselor can advise couples with family histories of a defect or other risks factors for birth defects. A counselor may be helpful when you are thinking about having children or already expecting. Genetic counselors can determine the likelihood that your baby will be born with defects by evaluating family history and medical records. They may also order tests to analyze the genes of the mother, father and baby.
Conclusion
The exact causes of many birth defects are not known at this time but there are several things a woman can do to prevent some birth defects, and increase her chances of having a healthy baby, like taking folic acid prior and during pregnancy – avoid harmful substances during pregnancy, such as alcohol, tobacco and other drugs. She should also talk to her doctor about the use of various medications during pregnancy and have regular prenatal visits with her midwife/obstetrician. Some birth defects can be treated, but it is important that all pregnant women do the necessary things to decrease their risk of having a baby with a birth defect.
Ask Your Dr is a health education column and is not a substitute for medical advice from your physician. The reader should consult his or her physician for specific information concerning specific medical conditions. While all reasonable efforts have been made to ensure that all information presented is accurate, as research and development in the medical field are ongoing, it is possible that new findings may supersede some data presented.
Dr Brett Hodge MB BS DGO MRCOG is an obstetrician/Gynaecologist and Family Doctor with over thirty-eight years in clinical practice. Dr Brett Hodge has a medical practice in The Johnson Building in The Valley (Tel: 264 497 5828).
