15 Times You Need To Test For Genetic Abnormalities

Genetic abnormalities are not what Moms want to face for their baby during pregnancy. But, they can happen and Moms probably want to be prepared for the possibility. Genetic screening and testing have come a long way in just the past few years, giving pregnant women a glimpse into possible genetic issues that can be affecting their unborn babies.

But, genetic testing doesn’t come without opposition. Some believe that we shouldn’t be given the chance to “play God” when it comes to our unborn babies. Genetic testing, in a way, allows us to interfere with biology. Some women choose to terminate their pregnancies based on their results from a genetic test.

However, it’s no secret that genetic testing can help prepare us for what our unborn child may face if she has a genetic disorder. Genetic testing can detect such abnormalities, like Down syndrome, spina bifida, and neural tube defects. When you know what your child may be up against, you and your doctor can more easily create a treatment plan, both during and after your pregnancy.

But, along with results come added worries to an already anxious pregnant woman. If you know your child is at risk for a genetic disorder, will it make you feel better or bring about more stress? It’s something you’ll need to weigh the pros and cons of on your own. These 15 situations, though, could warrant more need than the average pregnancy for genetic testing.

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15 Being 35 Or Older

Women of any age can be at risk for genetic abnormalities or other health concerns during pregnancy. But, those 35 and older carry an increased risk of their babies developing with genetic abnormalities during pregnancy. If you’re pregnant at the age of 35 or older, there’s a good chance your doctor may recommend that you get a genetic screening to rule out certain disorders, like Down Syndrome or spina bifida, which are more common in babies of older mothers.

Although you have every right to decline genetic testing, regardless of your age, if your doctor recommends it, it’s probably a good thing to seriously consider. A genetic screening will let you know if there’s a possibility of some type of genetic problem. You can then decide whether or not to move forward with full genetic diagnostics to find out if there is, indeed, a genetic problem with your unborn baby.

14 Being Of A Certain Ethnicity

Most ethnicities are more at risk for specific genetic disorders than others. So, depending on your ethnicity, you may want to have genetic testing done to at least screen for the genetic disorders that are more prominent in people of your ethnicity. If you’re of multiple ethnicities, or in a multi-ethnic relationship, you are even more at risk for your baby having a genetic disorder.

Caucasians, for example, are more likely to carry the genes for cystic fibrosis than people of other ethnicities, with 1 in 25 Caucasians being a carrier for the disorder. Those of Asian descent are more at-risk for inherited blood conditions that can cause a range of medical issues, from mild anemia to stillbirth. African Americans are more at-risk for passing on the genes that cause sickle cell disease and other conditions that affect the body’s hemoglobin. Those of Jewish descent may be more likely carriers of Tay-Sachs disease, which causes deterioration of the neurological system.

13 Having The Same Genetic Disorders Run In Both Families

If you remember a little bit from high school science class, you’ll remember the basics of how genetics works. A child is more likely to get a dominant trait from a parent rather than a recessive one, unless both parents have the recessive gene for a certain characteristic and the child receives an altered gene from each of them. In that case, the chances of the child inheriting that trait are 25% - not a huge chance, but it does boost it up.

When it comes to genetic disorders, genes work the same way. Say you and your husband have no issues with hearing loss. But, you’re both carriers for genetic hearing loss. You end up having a baby who is born deaf, and it’s ruled to be a genetic cause, rather than any physical impairment that occurred during the birth. This is absolutely possible with any genetic disorder.

So, if you know that a specific genetic disorder, like deafness, is present in both your families, you may want to consider getting tested for it.

12 Worrying A Lot About Baby’s Health

We all know that anxiety does not do anyone any good. But when you’re pregnant, you may reach a whole new level of anxiety that’s the result of raging hormones and a new baby to worry about. You’re suddenly overwhelmed by what the future holds for you and your family, and you may find yourself worrying about things you never worried about before.

Anxiety during pregnancy can have a harmful effect on both you and your unborn baby. And, taking anxiety medications to reduce your stress isn’t recommended during pregnancy. So, anything you can do to release some anxiety is a good move for you and baby.

If you notice that you’re worrying a lot over having a healthy baby, having a genetic test can help put some of those fears to rest. Even if you get a positive result, you can begin focusing on learning the proper interventions and treatments, rather than worrying about the “what-ifs” that can cause you unnecessary stress.

11 Trying To Get Pregnant

It’s actually recommended to get genetic screenings done before you get pregnant. Not only will they give you a heads up about your chances to conceive a child with certain genetic disorders, it can help detect unknown problems that you weren’t aware of before. Therefore, the screening can help you better plan for your health and the health of your future family.

However, it’s important to note that genetic screenings before you’re pregnant won’t tell you with 100% accuracy that your child will have a particular disorder. Instead, it helps you know the chances of you conceiving a child with that disorder. Therefore, once you do get pregnant, you and your doctor will know exactly what to look for and can get to work on creating a plan for you and your baby, if necessary.

Getting tested before you get pregnant is also less risky to your health. Some testing done during pregnancy carries risks to you and baby.

10 Receiving A Positive Screening

Many people tend to use the terms “screening” and “testing” interchangeably, when, in fact, they mean very different things in terms of genetics. Your doctor can perform a genetic screening, which is usually in the form of a blood test, to help pinpoint any potential genetic dangers to your baby. This will take into account your and the father’s genetics to tell you if your baby is more at risk for certain genetic disorders.

If a genetic screening shows a positive result for a disorder or abnormality, then your doctor may recommend a more in-depth testing. This testing will be in the form of an amniocentesis or chorionic villus sampling (CVS), both of which can pose some risk of miscarriage. However, they will tell, with more accuracy, whether your baby does or does not have the genetic disorder or abnormality your doctor is testing for. Plus, it can test for a variety of other disorders that a screening may not have shown.

9 Down Syndrome Runs In The Family

One of the most common reasons doctors recommend genetic screenings during pregnancy is if you have a person with Down syndrome in your family. This puts your baby at higher risk for having Down syndrome, too. Genetic screenings often accurately predict the possibility of Down syndrome. If the screening indicates that there may be an issue, you can choose to have further genetic testing done to find out whether or not your baby does, indeed, have the condition.

Be aware, though, that testing during your pregnancy does carry a slight risk of miscarriage. Your doctor will need to perform amniocentesis or chorionic villus sampling (CVS) to test for the disorder, since a screening will only tell you if there’s a possibility that the baby is at risk. So, make an informed decision about testing. If you feel that the outcome will have no bearing on your feelings about the pregnancy, it may be best to decline testing.

8 Previous Children Have Birth Defects

Although not all children with a birth defect necessarily have a defect caused by genetics, it’s possible. If you’ve never gone through the genetic testing problem with child #1, then the reality is, you don’t know for sure whether it was a genetic defect or not. So, it’s best to err on the side of caution with baby #2 and consider getting genetic testing done.

If you do decide to go ahead with testing, you will also get a better understanding of your other child’s defect. If baby #2 has the defect as well, then it’s more likely that genetics caused your other child’s defect. And, if you have a third child, you may be more at risk for passing on the defect to him or her. The more you know about the genetic possibilities that run in your family, the more prepared you’ll be to make the best intervention and treatment plans.

7 Previous Stillborn Child

If you’ve had a stillborn child and were told, through testing, that a genetic factor could have been involved, you should definitely treat genetic testing seriously for subsequent pregnancies. For example, if your stillborn baby had physical signs of Down syndrome in his facial characteristics, then it’s possible that genetics played a role in the stillbirth and can affect your future babies.

Studies show that about 25-60% of stillbirths are unexplained, according to National Institutes of Health. However, some doctors may suggest performing a karyotype after a stillbirth. This technique looks at your baby’s chromosomes to detect an abnormal chromosome or number of chromosomes that could have caused a genetic defect leading to stillbirth.

About 70% of karyotypes lead to results regarding a possible chromosomal defect. The results of this technique should carry weight in determining whether or not you should get a genetic screening for your current pregnancy.

6 Already Had More Than One Miscarriage

One miscarriage shouldn’t be something to worry about when it comes to genetic abnormalities. In fact, about 75% of conceptions end in a miscarriage and 30% of pregnancies do as well. There are several causes for miscarriage, including fertilized eggs that don’t implant properly, alcohol or drug use, or not knowing that you’re pregnant early enough to receive proper prenatal care.

But, if you’ve had more than one miscarriage, it may be time to look further into your genetics as a possible cause. Recurrent miscarriages are often caused by faulty genetics, like an abnormal number of chromosomes, severe cystic fibrosis, or any other genetic disorder or abnormality that can hinder a baby’s chance at survival in the womb.

If you’ve never gotten a clear answer as to why you’ve miscarried in the past and you’re now pregnant again, it can do your unborn baby good to at least get a genetic screening. Doing so will tell you if he or she is at risk for possible genetic disorders so your doctor can intervene, if needed, to help save your pregnancy.

5 Looking For Every Chance At Early Intervention

Getting genetic screenings done during your first trimester is absolutely possible, and it gives you the best chance at early intervention, if needed, to help your baby thrive. The first trimester genetic screening involves an ultrasound and blood test to check for chromosomal abnormalities. The screening is also helpful in detecting other possible disorders, such as cardiac disorders. The screening has about an 85% accuracy rate, meaning that you have a very good chance of having an accurate result early in your pregnancy.

If you end up with a positive from your screening, it’s then time to talk to your doctor about your options. He will probably recommend more in-depth testing and will explain the possible options for helping your baby continue to thrive in the womb, and what can be done once he’s born.

The earlier you have a plan in place, the better the chances your child has to live the best life possible.

4 Both Agree 100% On Testing

The decision to go through with genetic screening or testing shouldn’t be one you make on your own if you want Dad to be a part of your child’s life. After all, genetics factors in information from both of you, and he is just as much a part of your child as you are.

Ideally, have a serious discussion with your partner about genetic screening and testing before you get pregnant. Doing so can help avoid an awkward, stressful conversation when you’re pregnant, more stressed, and hormonal. Get it out of the way and come to an agreement, no matter what path you choose to take.

If you both are 100% in agreement about having genetic testing done for your future baby, then by all means, go through with it. It’s best to be on the same page about your baby’s health and confront any issues head on, together, so you have each other for support systems.

3 Already Have A Child With Possible Genetic Health Problems

If you have another child who has medical problems caused by what could be a genetic disorder, you might want to consider getting screened during your current pregnancy. A child with medical problems that affect more than one body system, such as digestive tract issues combined with severe eyesight problems, is more at risk for there to be an underlying genetic cause for his symptoms.

Behavioral disorders, such as ADHD and autism, have more recently been linked to possible genetic abnormalities involving gene duplications or deletions. Even if you’ve thought nothing about the genetic implications your child’s ADHD could have on him, it’s something to consider as a possibility. Genetic testing during pregnancy won’t be able to tell you if your unborn baby will have ADHD as well, but it could give you a better indication of possible abnormalities that could be linked to ADHD.

2 If The Doctor Highly Recommends It

Your doctor is supposed to look out for your best interests, and the best interests of your unborn baby. And, if you trust your doctor, you should trust that he has your best interests in mind if he strongly suggests a genetic test. If it’s a newer doctor you’re not as familiar with, don’t hesitate to get a second opinion. But if this is a doctor you’ve trusted for years with your medical care to this point, why not trust this decision?

Only you, of course, can make the final decision about genetic screening and testing. But, doctors are there to give us sound medical advice. A genetic test does nothing for your doctor; it only helps you and your baby in the long run. So, if your doctor is strongly suggesting at least a screening, you need to openly discuss it with him. Bring up your concerns and ask any questions you have so you can be fully informed in your decision.

1 If Results Have An Impact On Whether To Keep Pregnancy

Some women choose to terminate their pregnancies based on the results of a genetic test. Even if you don’t agree with abortion for any reason, your views may change if you’re faced with the same dilemma as other women who have had to make the difficult choice. If you knew your baby had a very low chance at survival, or little chance to thrive after he was born, what would you do?

The truth is, you don’t know until you’re put in that situation. However, once you’re pregnant and begin to love the child inside you, you may begin to play possible scenarios in your head. If she is diagnosed with a severe genetic disorder based on a prenatal test, one that would give her little chance at survival or a life of pain, would you decide to terminate your pregnancy?

If you think genetic testing results may have an impact on your pregnancy ending in termination as the best choice for your unborn baby, then you should consider genetic screening and testing.

Sources: American Pregnancy, Everyday Health, KidsHealth, Know Your Genes, Live Science, Maryland Perinatal Associates, National Institutes of Health, Very Well

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