The Ultimate Guide to Congenital Disorder Awareness & Prevention
Do you wonder how you can reduce the chances your baby will have a birth defect? Is the idea of a birth defect keeping you up at night? Can you stack the odds of having a healthy baby in your favor?
Birth defects are one of the biggest worries moms face throughout pregnancy. I felt the same way. I spent a lot of time reading about and researching ways to cut down on that risk.
Although I knew most pregnancies end with a healthy and happy outcome, birth defects still scared me. I wanted to find every way I could to make sure my baby wasn’t affected by them.
If you’re planning a pregnancy or you’re in the early stages of one, there’s no better time to learn about birth defects than in January -- it’s National Birth Defects Prevention Month. With just a few minutes of your time, you can learn all you need to know to give your baby its best shot at a healthy life.
- Awareness & Prevention Infographic
- What’s the Deal with Birth Defects?
- 8 of the Most Common Birth Defects Explained
- 10 Things You Should Avoid During Pregnancy
- 7 Crucial Ways You Can Prepare Your Body
- 3 Steps You Should Take to Be Prepared
- How You Can Test for Birth Defects
- 5 Tips for Managing & Living with Birth Defects
- Pregnancy Can Be a Time of Anxiety, But Try to Enjoy It
Awareness & Prevention Infographic
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What’s the Deal with Birth Defects?
When an abnormal condition occurs during a pregnancy or at birth, that is what’s called a birth defect. They can range from mild conditions to ones that can prove to be life threatening.
Why they happen is often a mystery -- about 70 percent of birth defects happen for an unknown reason (source). Some, however, are easier to trace and can be caused by genetics, medicines, and drugs.
Drugs or other traceable reasons, like poor nutrition, are believed to cause around 10 percent of birth defects. Genetics, such as chromosomal and inherited issues, cause the remaining 20 percent of birth defects.
Education is Key:
Far more suffer from birth defects than that though. For every 33 babies born, one will have a birth defect (source). That amounts to a staggering 150,000 children each year who will be born facing the challenge of birth defects.
Major birth defects that reveal themselves at birth are fairly rare, at about 3 percent of births in the U.S. Many other birth defects are discovered as time passes -- they aren’t always apparent at birth.
Although it’s definitely not as much of a concern as the health and well-being of children, birth defects also end up costing parents a lot of money. Each year, more than $1.4 billion is spent on medical care for children because of their birth defects.
What makes birth defects even more heartbreaking is the fact that some of them are preventable just from what we already know about them. If all pregnant women were to get proper prenatal care, a quarter of infant deaths could be avoided.
Every year, up to 1.3 million pregnant women get inadequate prenatal care. Pregnant women with uncomplicated pregnancies should visit their obstetrician anywhere from 10 to 15 times for prenatal visits (source).
When To Go:
Women avoid those crucial prenatal care visits for a variety of reasons, including the prohibitive cost of medical appointments, the inability to take days off of work, and sometimes even the lack of seeing the importance or need for those appointments.
In addition to that, educating women about the dangers of alcohol or taking drugs during pregnancy could also prevent a lot of birth defects.
8 of the Most Common Birth Defects Explained
Although there are many different types of birth defects, some are rare, while others are way more prevalent. Here are some of the most common ones you should be aware of -- knowing what they are and what can be done about them should make you feel more empowered.
1. Cleft Lip or Palate
Description: These birth defects happen when something causes the malformation of the lips or mouth of a fetus. What happens with a cleft lip is the tissue doesn’t completely meet up and it leaves an unsightly gap in the front. With a cleft palate, it’s the same principle, but the palate located on the roof of the mouth doesn’t fully join together.
Prevalence: Cleft lips affect 4,440 children each year in the U.S. -- and some of those cleft lip cases may also involve a cleft palate. The number of children with cleft palate but who don’t suffer from cleft lip is approximately 2,650 each year.
Causes and Prevention: There’s no clear cut answer about what causes cleft palate or lip, although experts believe that genes may be at work some of the time, as well as environmental factors and medications. Things that are believed to up the risk of this birth defect are smoking by the mom when pregnant, diabetes before pregnancy, and epilepsy medicines (source).
Diagnosis: Because of today’s highly sensitive ultrasounds, doctors can often spot cleft lip or palate before babies are born. Obvious cases of cleft palate and lip are apparent as soon as the baby is born, but other cases of cleft palate aren’t found until later.
Treatments: If your baby has a cleft lip, it should be repaired with surgery before your baby’s first birthday. A cleft palate should be fixed through surgery in the first 18 months of a child’s life. One surgery may not be enough to fix the problem in some cases.
2. Congenital Heart Defects
Description: This defect is a scary one for parents to deal with because obviously the heart is a crucial organ and if the heart isn’t healthy, the outcome can be severe. Congenital heart defects (CHDs) are there at birth and they can impact how your baby’s heart works so it’s important to heed any advice the doctor gives you.
Prevalence: CHDs occur in almost 1 percent of births in the U.S. every year, meaning that about 40,000 babies are born with CHDs annually.
Causes and Prevention: This type of defect occurs when there is an abnormal development of the heart when your baby is a fetus. CHDs are sometimes caused by genetic conditions -- experts believe somewhere around 15 percent can be attributed to that reason (source).
Sometimes the reason for the CHD is unknown, but viral illnesses like German measles, certain medications, alcohol, smoking, drugs, and underlying medical conditions can all increase the odds of your baby developing a CHD.
Diagnosis: A CHD will often be able to be detected before birth at a prenatal visit by using noninvasive sound waves. If that doesn’t happen because the ailment isn’t apparent at appointments or if prenatal appointments are skipped, most severe heart defects are apparent soon after a baby is born -- they’ll usually reveal themselves with days, weeks, or months.
Treatments: When a CHD is discovered before birth, doctors may be able to use medication to stop any additional damage from being done. If the defect appears to be severe enough and needs immediate intervention, doctors will be able to arrange for further intervention as soon as your baby is born.
3. Down Syndrome
Description: Down syndrome occurs when a baby has an extra copy of chromosome 21. A typical baby should have 46 chromosomes. With Down syndrome, that extra chromosome can create a difference in development in the brain and the body. It alters appearance, leading to a flatter face, a shorter stature, small ears, and a tongue that sticks out of the mouth more.
Prevalence: In the U.S., every year approximately 6,000 babies are born with Down syndrome. That amounts to one in 700 babies (source).
Causes and Prevention: Why Down syndrome occurs sometimes, but not others, is a mystery. But one important trigger appears to be an older maternal age at the time of pregnancy. Moms who get pregnant when they are 35 or older have a greater risk of having a child with Down syndrome -- and that risk increases for each year they age.
But many younger women also have children with Down’s syndrome so the risk isn’t only created by a mother’s older age.
Diagnosis: To figure out if your child may be born with Down syndrome, your doctor can do a noninvasive screening test (source). That screening test will help decide whether you should undergo a more invasive diagnostic test that looks at amniotic fluid, a sample from the placenta, or blood that is drawn from the umbilical cord.
Treatments: There is nothing the medical world can do to take away your child’s Down syndrome -- they will have it for life. But there are medical interventions that will help them make the most of their potential, like physical and occupational therapies.
4. Cerebral Palsy
Description: Cerebral palsy (CP) is a condition that’s caused when the developing brain sustains damage or fails to progress as it normally would. When a child has cerebral palsy, it impacts their movement, as well as their balance and posture. CP may be really severe or it can be mild.
Prevalence: Each year about 10,000 births will result in a diagnosis of CP. Overall, for every 1,000 children in the U.S., about two or three will have CP (source).
Causes and Prevention: Brain damage is the root cause of CP and it can happen during the prenatal period, during the birthing process, or even during the early years of a child’s life as the brain would normally continue to develop.
Most CP, up to 90 percent, is congenital, meaning the damage happened in the womb or during birth.
Diagnosis: Unlike some other birth defects,CP isn’t readily apparent at birth. It can take months before doctors or parents begin to notice signs that point to CP. There’s no definitive test that shows whether a child has CP -- there will be monitoring and screening to look for any developmental delays.
Treatments: CP is a lifelong condition, but getting a prompt diagnosis and seeking out treatment can help tremendously. Some of the treatments your child’s doctor might recommend include various therapy options, braces, surgery, and medicines.
Description: When a baby’s tissues between the muscles and bone in their foot and leg aren’t as long as they need to be, the result is clubfoot. In this condition, your baby’s foot looks twisted and it can make it difficult for your child to walk normally. Sometimes it can be in both feet.
Prevalence: Clubfoot affects approximately 1 in 1,000 babies annually.
Causes and Prevention: The cause of clubfoot hasn’t been determined, but genetics are suspected in some of the cases. It can sometimes appear to run in families. But just because you have a history of it in your family doesn’t mean you should be overly concerned about your baby having it too -- there’s a good chance it won’t.
Diagnosis: Sometimes clubfoot can be detected in routine ultrasounds during pregnancy. But other times, a doctor won’t spot it until after birth when they are looking over a newborn. Nothing can be done to help your baby about clubfoot until after your baby is born, but if you realize it’s happening before you have your baby, it will give you and your doctor time to plan the best course of action.
Treatments: Clubfoot is a treatable birth defect. It doesn’t require major surgery and in up to 50 percent of cases, it doesn’t require surgery at all (source). Children with clubfoot can benefit greatly from having casts for the first two or three months of their lives.
Following that, some babies also need to wear corrective shoes or braces, sometimes for years.
6. Fetal Alcohol Syndrome
Description: Fetal alcohol syndrome is a name given to a wide range of issues that happen because of a mom ingesting alcohol while she’s pregnant. Once that damage is done, it remains a lifelong condition. It can cause a wide variety of issues, from growth to brain damage.
Prevalence: It can be hard to know just how prevalent fetal alcohol syndrome really is. But experts believe fetal alcohol syndrome affects up to 1.5 live births out of every 1,000.
Causes and Prevention: Alcohol is the sole cause of this condition. While you’re pregnant, you should stay away from alcohol entirely.
Doctors don’t know for certain how much alcohol is the tipping point to begin wreaking havoc on your developing baby, so abstinence is the best course. It can be tricky to avoid alcohol in early pregnancy before you even know you’re pregnant so the best plan is to avoid all alcohol if you’re actively trying to get pregnant.
Diagnosis: There isn’t one magic test that can diagnose fetal alcohol syndrome. It takes meeting a criteria of diagnostic guidelines to end up with a diagnosis.
It includes abnormal features of the face, including a thin upper lip and wide set eyes, and growth and central nervous system issues (source).
Treatments: Because fetal alcohol syndrome can cause a big range of physical defects, brain and nervous system problems, and social and behavioral issues, treatments can vary. While the damage is irreversible, your child may need various therapies to help stay on track.
7. Spina Bifida
Description: This birth defect happens when formation of the spinal cord and spine don’t develop normally. When a child has spina bifida, the neural tube does not form correctly.
The resulting birth defect can be severe or mild. In the mildest cases, doctors may not even know a child has spina bifida unless they happen to do an imaging test for another reason that shows the condition.
Prevalence: Every year in the U.S., spina bifida is present in about 1,500 births. The highest rates of spina bifida are experienced by Hispanic moms.
Causes and Prevention: The reason some babies end up with spina bifida isn’t clear, but it is believed to be caused by genetics and environmental issues. There are certain risk factors that appear to increase the risk.
Girls have more instances of spina bifida than boys so being a female baby is one risk factor. Not getting enough folic acid during pregnancy is another risk, as is a family history of the condition. Other risk factors include the use of hot tubs, obesity, diabetes, and anti-seizure medications (source).
Diagnosis: To be alerted to any potential spina bifida birth defects, doctors check for it before childbirth by doing a blood test. That blood test isn’t conclusive so just because it’s negative or positive, it doesn’t mean your child absolutely does or doesn’t have spina bifida.
If a blood test leads your doctor to suspect spina bifida during your pregnancy, they’ll use ultrasound and possibly amniocentesis to figure out what is going on. For suspected mild cases after a baby is born, doctors might use ultrasound, magnetic resonance imaging, or CT scans to help diagnose the condition.
Treatments: If spina bifida is found before birth, surgery is done before the baby is born to do spinal cord repairs. That might help spare your child from some of the damage caused by spina bifida.
Sometimes surgery will be done after birth instead.
Children with spina bifida will need a variety of treatments to help them with complications and the condition. Those treatments and special equipment might include braces, crutches, wheelchairs, medications, and various therapies.
8. Upper and Lower Limb Reduction Defects
Description: Upper and lower limb reduction defects are when a portion of an arm or leg doesn’t form correctly. It can even affect the whole leg or arm instead of just a part of it. This birth defect affects arms more than legs.
Prevalence: Annually, approximately 4 out of 10,000 babies will be born with upper limb reductions. Only about half as many will be born with lower limb reductions.
Causes and Prevention: As with many other birth defects, doctors aren’t completely sure what causes upper and lower limb reduction defects. But they do believe that certain medications can play a part, as can viruses and chemical exposures and even potentially tobacco exposure (source).
Taking multivitamins before conception may help lower the risk for these types of defects. It’s believed this is because of the folic acid in the multivitamin.
Diagnosis: For more severe upper and lower limb reduction defects, doctors are often able to make the diagnosis before birth. For smaller issues, it may be difficult to detect until birth though.
Treatments: Treatment will depend upon how much of the limb is affected, as well as whether it’s an arm or a leg. Children may need surgery for their limbs, especially if they will use a prosthesis.
They also may need physical therapy or occupational therapy.
10 Things You Should Avoid During Pregnancy
There are certain substances you should make sure to keep away from when you are pregnant because they can increase your odds of having a child with birth defects.
Alcohol is never a good idea during pregnancy because it can cause so many problems for your developing fetus. Any alcohol that you drink goes right to your baby from the umbilical cord.
A Slippery Slope:
In addition to that, there is no way of knowing how much alcohol will lead to a birth defect. It’s better to play it safe -- nine months of you waiting for a drink is better than a lifetime of consequences for your child.
It’s a good idea to quit smoking before you attempt to get pregnant, but if you are already pregnant, it’s not too late. Smoking has been linked or suspected as a link to many birth defects and, at the very least, it’s not good for either you or your baby.
It’s going to be a struggle to quit, but there are so many rewards, it’s definitely worth the effort.
If you’re already pregnant, you may not want to use medications or nicotine patches that smokers who aren’t pregnant can utilize to help them quit.
Here are some methods you can use for quitting:
- Dropping cigarettes cold turkey: This is a really hard method to do, but if you’re worried about the safety of your baby, it might give you the motivation to do it.
- Cut back method: If you’re in the early weeks of pregnancy, you still have time to use this method. To ensure the best safety for your baby, you should try to be completely tobacco free by your 14th week of pregnancy (source).
- Counseling: Sometimes it helps just to feel like you're not alone. Counseling sessions can help you kick those butts for good.
Illegal drugs are a bad idea for multiple reasons while you’re pregnant. But one of the most compelling reasons to stay away is the harm those drugs can bring to your baby.
Birth defects can be caused by drug use, and drug use can result in an awful withdrawal process for your baby after birth as well. Drug use can cause physical birth defects for your baby as well as cognitive ones, such as learning issues (source).
Don’t Go Solo:
A professional can help you find the best method for protecting your baby’s health, and can line you up with any other resources you need.
4. OTC Drugs That Can Be Harmful
Some over-the-counter drugs are perfectly fine to take while you’re pregnant. Others are potentially dangerous to your baby.
You need to be certain before you start popping what you consider to be harmless pills. You should check with your doctor before continuing those medications.
A pharmacist can also tell you if the medicine you’re considering is safe for pregnant women, but talking to your doctor first is best. They need to be aware of all the medications you’re taking anyway.
Even commonplace medications like aspirin and ibuprofen can cause issues for developing fetuses -- a good alternative to these medications is Tylenol (source). You should also watch out for cold, allergy, sinus products, and herbs (source).
5. Foods to Avoid
Making nutritious choices during pregnancy is one of the keys to giving your baby a healthy start. But it’s equally important to know which foods you should stay away from too.
Certain foods can cause infections that can severely impact your baby, and they can also have a lot of toxins that can cause harm to a developing baby. Some types of infections can lead to birth defects so it’s important to avoid them if you can while you’re expecting (source).
Here is a list of foods you should stay away from during your pregnancy:
- Uncooked seafood.
- Smoked seafood.
- Rare-cooked meats.
- Deli meats.
- Raw eggs.
- Soft cheeses like brie.
- Unpasteurized milk or juice.
- Unwashed fruits and vegetables.
- Fish with high levels of mercury.
6. Environmental Toxins
Environmental toxins, including chemicals, are believed to contribute to somewhere in the neighborhood of 10 percent of birth defects.
With millions of chemicals on our planet, it’s impossible to completely avoid exposure, especially when they are in ground, air, water, food, as well as our homes.
But knowing which ones are believed to be the most harmful to developing fetuses can help you reduce your baby’s chance of a birth defect.
Here are some of the chemicals and toxins that are known to cause issues (source).
- Glycol ethers.
- Methyl ethyl ketone.
- Organic solvents.
- Carbon monoxide.
- Harmful fumes.
- Arsenic and cadmium.
7. Zika Virus
The Zika virus gave expectant moms one more reason to panic in 2015 as it began spreading throughout the Western Hemisphere.
Women who contract the Zika virus when pregnant are more likely to give birth to a baby with microcephaly. Microcephaly is when a baby’s head is smaller than it should be.
Aside from a cosmetic standpoint, microcephaly poses a problem because the small head can mean smaller brains. It can also cause eye issues and problems with having a full range of motion for the joints (source).
The Zika virus is spread primarily by mosquito bites. Taking steps to reduce your chances of being bitten by a mosquito in places the Zika virus has reached is a good precaution to take when you’re pregnant.
That might mean spending more time indoors.
If You Do Contract Zika Before Pregnancy:
In addition to infections caused by food bacteria, pregnant women also have to keep an eye out for other infections, particularly those caused by viruses. There are a number of viruses that can cause birth defects and other issues for pregnant women, including toxoplasma, rubella, enteroviruses, adenovirus, herpes, and cytomegalovirus (source).
To help protect yourself from infections, you should make sure you keep your hands washed well, especially after doing things that could increase your exposure to infections. Make sure you wash your hands with soap and water after:
- Going to the bathroom.
- Handling raw foods.
- Handling dirt.
- Touching pets, particularly hamsters and guinea pigs.
- Changing a diaper.
- Being around someone who is sick.
- Spending time with small children because they are often fighting some infection or another.
9. Steam Rooms, Saunas, and Hot Tubs
Heat and developing babies are not a great match. That’s why pregnant women should stay away from hot tubs, and other sources of heat like saunas and steam rooms.
Hot tubs, in particular, have been linked to a higher risk of certain birth defects, including neural tube birth defects (source).
Using a hot tub during early pregnancy seems to be particularly risky because it’s during the first 12 weeks when a child’s internal organs and body are being formed.
The longer a woman stays in a hot tub, the higher her body temperature will go. If you decide you can’t skip hot tub sessions, even for the health of your baby, you should at least limit the length of them, keeping them to just a few minutes at a time.
But the best policy is to avoid them altogether during pregnancy, just to be on the safe side.
10. Caffeine Cut Backs
If you relied upon multiple cups of coffee, tea, or soda just to get you throughout your day before you were pregnant, you should really think about cutting back.
While you don’t have to completely eliminate caffeine, doctors say you should stick to no more than 200 milligrams a day (source). That’s about one cup of coffee.
The reason you should make sure to keep your caffeine intake to a safe level is because your baby can develop an irregular heart rhythm because of it. It can also make your baby dependent on it if you drink a lot of it.
While it can be hard to cut back on caffeine when you’re pregnant and tired, it’s a good excuse for you to tell your partner you need to get some extra sleep whenever you can.
7 Crucial Ways You Can Prepare Your Body
While you can never eliminate your baby’s risk of birth defects entirely, there are steps you can take to prepare your body for your pregnancy and lessen your risk as much as you can.
11. Get Vaccinated
When you’re planning to start a family, you should first talk to your doctor about making sure your vaccines are up to date. The measles, mumps, and rubella vaccine should be administered before you begin trying to conceive.
When you find out you are pregnant, then you should add the Tdap vaccine, which is used to prevent the whooping cough. This vaccine will give your baby some early protection against the whooping cough -- although it won’t last for long after their birth.
In addition to those two, you should also strongly consider adding the flu shot because the effects of the flu on pregnant women and their fetuses can be quite severe (source).
12. Supplement with Folic Acid
Making sure you’re getting enough folic acid during pregnancy is critical to giving your baby their best shot at health. Doctors say you should get at least 400 micrograms of folic acid daily to lessen the chance of brain and spinal cord birth defects.
That amount of folic acid should be in your prenatal vitamin. It should be in addition to any amount you get from your diet. Fortified cereal is a great source of folic acid.
If you’re planning on becoming pregnant, you should start taking folic acid before conception. You want to have a healthy supply in your system because many birth defects happen within the first month of pregnancy (source).
That means a birth defect could happen before you even would know you are pregnant.
Related Reading: Which Supplements are Safe During Pregnancy?
13. Maintain a Healthy Weight
Obesity is an epidemic in the U.S., as it is in other parts of the world. While obesity is a bad thing for the general population, it can also have disastrous consequences for pregnant women and their babies.
If a woman is obese before she conceives, her baby will be at a greater risk for having a congenital heart defect (source).
If you know you want to start a family soon and you’re carrying a few extra pounds or more, it’d be smart to work on losing them.
Don’t Expect Shortcuts:
14. Keep Diabetes Under Control
There are two types of diabetes during pregnancy -- there is the type some women have all the time and then there is gestational diabetes, which is the kind some women develop later in pregnancy.
Both types have to be managed, but gestational diabetes isn’t as risky as diabetes that is present before birth (source). When a woman’s blood sugar is higher than it should be during the early weeks of pregnancy, it increases the odds of birth defects and even miscarriages.
That’s why it’s so important to make sure your blood sugar levels are good before you attempt to get pregnant. If you’re having trouble maintaining control over your sugar levels, work with your doctor first to stabilize them before getting pregnant.
15. Maintain an Exercise Regime
Exercise is great for pregnant women. It can help them in a number of ways.
- It can help them with the physical endurance needed for delivery.
- Exercise assists them with managing the aches and pains of pregnancy, like back pain.
- Exercise lowers blood sugar levels, which is particularly helpful for moms who have developed gestational diabetes.
- It can help them avoid packing on too many pounds in pregnancy.
If you don’t regularly exercise now, you should consult your doctor before beginning a program. The key to a successful exercise program is to start it slowly and make sure you’re not over exercising.
As your body gets used to the routine, you can start adding a little more if you want. You should focus on activities that won’t endanger you or your baby, such as walking, swimming or riding on stationary bikes.
16. Eat Nutrient Rich Food and Stay Hydrated
Eating the right foods helps your developing baby get all the nutrients they need to stay in good health. And drinking enough fluids is equally important -- you don’t want to end up dehydrated.
Dehydration during pregnancy has been linked to a number of problems including neural tube defects as well as other birth defects (source). While you’re pregnant, you’ll need more water than you did when you were just drinking for one.
Make sure you pay attention to the signs that you’re starting to get mild to moderate dehydration. The signs are:
- Dark urine -- strive for pale or clear urine.
- Dry mouth.
- Feelings of thirst.
- Not urinating as often.
- Feeling sleepy.
As far as food choices, make sure you’re getting a balanced diet with plenty of colorful fruits and vegetables, grains, lean proteins, and calcium.
17. Tips for Practicing Good Hygiene
Turns out your parents were right when they used to nag you about having good hygiene. Keeping things clean can help your baby dodge birth defects.
You won’t totally eliminate your risk, but if you can even lower your odds slightly, it was worth the effort.
Here are some easy steps you can take to cut back on your baby’s risks of birth defects.
- Stay away from kids’ saliva because it may contain cytomegalovirus, which is a type of herpes virus that can hurt your unborn baby. CMV can cause microcephaly.
- If you wipe another child’s nose, wash your hands because bodily fluids can also lead to CMV.
- Don’t clean your cat’s litter box. Used kitty litter might have a parasite that leads to toxoplasmosis (source).
- Keep away from mice, guinea pigs, and hamsters -- even if they are pets. You might contract lymphocytic choriomeningitis virus which can lead to devastating birth defects. Let your partner do everything for your pet’s care during your pregnancy just to be on the safe side.
- Practice thorough hand washing throughout the day.
- Pay attention to food preparation safety by keeping your counters clean and putting food away promptly after cooking it.
3 Steps You Should Take to Be Prepared
As with anything else, a successful pregnancy can really benefit from a good plan. Waiting until you are already pregnant might cause irreversible problems that a little forethought would have eliminated.
18. Don’t Be a Stranger to Your Doctor
Make sure you set up and attend all the prenatal appointments your doctor recommends (source). And if you have any questions or concerns during your pregnancy, pick up your phone and call your doctor.
Ask your doctor what screenings they recommend, what the risks are to those screenings, and what the benefits to those screenings might be. If you feel uncomfortable about the risk of a procedure, speak up and see if there is a less invasive alternative that could possibly be used instead.
If it helps you to stay organized, keep track of all your appointments digitally on a phone app or go the old-fashioned route and write them down on a calendar. Staying organized will help you to remember appointments and important dates.
19. Review Your Prescription and Over-the-Counter Medication List
Your doctor needs to know exactly what pills you take on a daily or even an occasional basis. They might need you to cut back or eliminate certain ones to give your baby a lower risk of developing birth defects.
Even if you’re taking something that you purchase over-the-counter, don’t assume it’s safe. You should still mention it to your doctor.
As soon as you find out you’re pregnant you should have a conversation with your doctors about the medicines you take -- if you’re planning your pregnancy, talk to them before conception.
Make sure to add any herbal teas you drink to the list you give your doctor. Some herbal teas are harmless during pregnancy while other ones are downright dangerous (source).
20. Seek Prenatal Care for Any Complications
If you think you are experiencing any complications or if you’re worried your baby has a higher than normal risk of birth defects, let your doctor know. Chances are they will look into the situation and you may feel a lot better knowing they are checking into everything they can.
You might feel like you’re becoming a pest, but if it’s for the protection of your baby, there’s no such thing as being overzealous. So feel free to share your concerns, big or small, with your doctor.
There’s likely no question you can ask them that they haven’t heard before.
How You Can Test for Birth Defects
Birth defect tests can give parents tremendous peace of mind when the results are negative. When they are positive and indicate there may be a potential problem, they can give parents time to deal with their emotions about it and come up with a plan of attack for how to best handle those defects.
While sometimes there isn’t much, if anything, doctors can do about the birth defects, other times they can help tremendously, such as in the case of spina bifida surgeries done pre-birth on the fetus.
First Trimester Screening Tests
- Nuchal translucency test: This ultrasound screening is often done in the late part of the first trimester. It measures the back of your baby’s neck -- a thicker than normal measurement can be an early warning sign of particular birth defects, such as Down syndrome.
- Blood tests: The blood tests in the first trimester look specifically at two things -- beta human chorionic gonadotropin, better known as beta-hCG, and plasma protein A, better known as PAPP-A. Large amounts of beta-hCG may mean certain birth defects could be present, while low amounts of PAPP-A may be a red flag for birth defects.
- Cell free fetal DNA: If there’s reason to believe a woman may have a baby with a genetic condition, like Down syndrome, this blood test can be performed in the first trimester.
Second Trimester Screening Tests:
- Triple or quadruple blood test: This test is done anywhere from the 15th to the 20th week of pregnancy to find out whether your baby might have certain issues. Alpha-fetoprotein (AFP), beta human chorionic gonadotropin (beta-hCG) and a kind of estrogen are checked in the triple test. In the quad test, the hormone inhibin A level is checked as well (source).
- Ultrasound: This is the test many expectant moms look forward to, but are still nervous about. Using an ultrasound between 18 to 20 weeks of a pregnancy can help doctors spot problems, such as heart, belly, or spine issues, as well as Down syndrome (source).
First Trimester Diagnostic Tests
- Chorionic villus sampling: This test is performed at the 10-to-12-week point of your pregnancy. It can help identify conditions such as Down syndrome, sickle cell disease and cystic fibrosis. To collect the chorionic villus cells, the doctor will put a catheter in your uterus or put a needle in your uterus through your belly (source).
Second Trimester Diagnostic Tests
- Amniocentesis: Performed between 15 to 20 weeks of your pregnancy, an amniocentesis is when your doctor sticks a needle into your belly to reach the uterus to get a sample of amniotic fluid. This test can detect chromosomal-related problems and other defects like spina bifida.
5 Tips for Managing & Living with Birth Defects
Finding out your child may have or definitely has a birth defect is traumatizing for parents. Everyone wants to sail through their pregnancy and realize their dreams of having a healthy baby.
When you find out you’re going to be facing the challenge of having a child who has a birth defect, it can seem overwhelming and scary. But there are things you can do to improve the outcome for your child and to help you deal with the feelings of worry and possibly even guilt that you’ll be struggling with.
Here are some things that may help you as you handle life’s newest challenge.
1. Educating Yourself on the Defect
Learning all about your baby’s particular defect can help you figure out your next step and it may prevent some worrying on your part too. It’s easier for some parents to process hard news if they know as much about it as possible.
Remember that not all birth defects have a bad outcome -- some are only minor roadblocks.
Read about the birth defect so you can form a list of questions for your doctor. Taking an active part in the situation may help you feel empowered and more confident in your ability to take care of your child when it’s time to bring them home from the hospital (source).
Don’t Be Surprised:
2. Working Closely with Your Doctor for Early Intervention
You may need a team of physicians to help your baby right after their birth, depending upon the severity of the birth defect. And there may be other therapies you’ll have to pursue soon after your baby’s birth.
Make sure you and your doctor are on the same page about what steps you should take before your baby arrives and after the birth. If the birth defect is severe and you’re going to be facing a lot of medical care and expenses, they may be able to refer you to programs that can help you shoulder the financial burden.
3. Finding a Local Support Group
There may be times where you feel like you are totally alone. That’s completely normal when facing a medical or health crisis.
When you start to feel sad, overwhelmed, alone, or depressed, that’s when you can most benefit from leaning on other people who have walked in your shoes. There are many local or even online support groups for parents of children with birth defects.
You can take great comfort when hearing positive stories about how children have overcome their challenges. You’ll be able to learn what worked and what didn’t work for parents of children who have similar conditions to your own.
How to Find Help:
4. Seeking Counseling if Necessary
Sometimes despite your best efforts, it can be hard to come to terms with your child’s birth defect. You might blame yourself or at least wonder if there’s something you could have done to prevent it.
There’s nothing wrong with seeking counseling if you need it. It might be able to help you better deal with depression or anxiety you feel about the birth defect.
It’s only natural to feel upset about your child’s condition. You love your baby and of course you’re worried about what it will mean for their short-term or long-term health.
5. Celebrating Your Child
While you and your child will undoubtedly face some extra challenges because of their birth defect, don’t let that suck away the joy you feel at their birth. Whether your child has a lifelong condition like Down syndrome or has a more minor one, like clubfoot, you’re going to love them just as fiercely as you would if you had given birth to a child who had no issues whatsoever.
Things may be different than you had envisioned, but over time, you’ll rise to the challenges in front of you. You’ll be just like any other parent and family -- you’ll have good days and bad ones.
But no matter what life throws at you, you’ll still have that unbreakable bond with your baby. Just take on each challenge one by one and try to savor those small moments, like rocking your baby to sleep at night. In parenthood, those small moments are just as important as the big ones.
Pregnancy Can Be a Time of Anxiety, But Try to Enjoy It
It’s normal to be worried about the possibility of birth defects as you move through the nine months you’re carrying your child. But by educating yourself about the odds of birth defects, realizing they all aren’t catastrophic life-changing events, and coming up with a timeline on when and how they might be identified, you’ll feel a little more like you’re in the driver’s seat.
They say knowledge is power and it certainly helped me through my worries about possible birth defects.
Do you have any tips or coping mechanisms when it comes to worries about birth defects? If you know any moms who could benefit from this article, we’d appreciate the share!