Genetic screening has long been debated as to whether or not it's an entirely necessary process for pregnant women, however, if having a heads up in regard to a child's health and any long-term ailments they may have to face for the rest of their lives, getting a few tests could turn out to be a relatively good option. Most genetic screening is done by using a sample from mom's body; it's less invasive than amniocentesis or chorionic villus sampling, which are just prenatal tests that test for pretty much the same thing, all with the intent to make sure that baby is growing well and safely.
Before mom gives birth, baby's DNA can be found in mom's body; pretty cool... right? This makes genetic screening of even simpler and safer for both mom and baby. Doctors say that genetic screening is also recommended for moms over a certain age or moms with certain family medical histories, but more detail on that later. So, if prospects on how the baby is shaping up are keeping that mom brain spinning at night, here she can learn more about what one can hope to learn from genetic screening.
These tests are usually done through drawing blood or testing the levels in one's urine and can tell you the chances that your fetus has an aneuploidy, which is the presence of an abnormal number of chromosomes, and a few additional disorders. Prenatal testing is actually pretty standard in the United States, and can only be conducted during a certain point in a woman's pregnancy, but more on that later. So doctors of the American Pregnancy Association advise women to follow all of their prenatal visits so that their doctors can monitor mom and baby's development through the 40 weeks or so of pregnancy.
A bit different from prenatal screenings, prenatal diagnostic testing is done using the cells from Mom to determine you whether your fetus has certain disorders. Unfortunately, these diagnostic tests are a bit more invasive, meaning mom's placenta or the amniotic fluid surrounding baby will need to be tested, instead of just her blood, but the good thing is that unlike screenings, these tests will be able to determine which disorder your baby has. Testing of this kind is very advanced and is becoming more and more common in the United States and abroad. If needles make you squeamish you may ask someone to hold your hand when undergoing these types of diagnostic testings.
Did you know that genetic testing and screenings can see if your baby has any neural tube defects? The word defect may sound a bit harsh, but hey, that's science for you. The term neural tube defect just means that your little one's brain, spine or spinal cord may be developing differently than other babies. These are birth defects of the brain, spine, or spinal cord. They also occur during the first month of pregnancy, and more often than not, before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly defects of the brain and spine, according to the American College of Obstetrics and Gynecologists.
Another diagnosis doctors will be able to discover through genetic testing is to see whether or not that little fetus will have any abdominal abnormalities. No one wants to think about their precious little one having problems with their tummy, but the good thing is abdominal defects, known by scientists and doctors as AWDs or abdominal wall defects, only happen to 6 out of every 10,000 births. So the chances of your little one having it are pretty slim, but just to err on the side of caution, doctors at the Radio Graphics Institute suggest mothers should consider screening, just in case.
Continuing down the list of things genetic screening can rule out for moms and dads when considering to have a baby, or when they hear the wonderful news that they are pregnant, are heart disorders. A test called a fetal echocardiogram is done to the fetus during pregnancy. The test uses pictures made by an ultrasound to show your baby's heart in motion and is completely painless for both mom and baby. The test allows your doctor to see if anything could be wrong with your little one's heart valves and structure. Not to worry, though, if anything comes up as abnormal the doctor will explain what measures should be taken to correct the issue, though many disorders resolve on their own, says The American Heart Association.
The quad test screens for down syndrome, trisomy 18, and neural tube defects. The tests are done by measuring different levels of substances in mom's blood, alpha-fetoprotein (AFP), a protein made by the baby, human chorionic gonadotropin (hCG), a hormone made by the placenta, unconjugated estriol (uE3), a hormone produced by the placenta and the baby, and inhibin A, a hormone produced by the placenta, according to Baby Center. High or low levels of each of these substances mean different things for mom and their babies, so it is best to check with doctors once the results come back, which typically only takes about one week.
Another thing that moms can discover in doing genetic testing is whether or not they are carriers or can pass along a gene that will give their little one cystic fibrosis. Cystic fibrosis is a genetic disorder caused by a gene that is passed down from parent to baby. Both mother and father would have to be carriers for cystic fibrosis in order for a person to have cystic fibrosis. If both parents have a carrier gene their children have a 1 in 4 chance of developing the disorder. Cystic fibrosis can cause long-term breathing and digestion issues, according to American College of Obstetrics and Gynecologists. But not to worry, if you or your partner are worried, you may want to consider genetic screening.
Fragile X syndrome is another genetic disease that causes mild intellectual disability and can alter the facial features in male children. The syndrome is very rare, though. It only occurs 1.4 in every 10,000 male children and 0.9 in every 10,000 females. So even if it sounds a bit serious the cases are really very rare. Even if you test positive to be a carrier for the syndrome, or if your little one tests positive to have already gotten it, early intervention has been seen as the best method to ensure that your little one develops a full range of skills. The American College of Obstetricians and Gynecologists says that children who have Fragile X syndrome often have similar traits like, large ears, a long face, soft skin, and flat feet.
According to the Mayo Clinic, the disease that affects a disproportionate number of African Americans in the United States is relatively easy to test for during pregnancy. Mom can find out whether or not her little one will be born with sickle cell disease from a simple blood test. Blood tests can check for hemoglobin S — the defective form of hemoglobin that is found in pretty much all sickle cell anemia, the clinic reports. In the United States, this blood test is part of routine newborn screening done at the hospital. But older children and adults can be tested, too. In adults, a blood sample is drawn from a vein in the arm, which is pretty good to know.
One pretty difficult genetic disease that develops occasionally is Tay-Sachs disease. Tay-Sachs disease can be easily diagnosed and is typically found in people with a certain ancestry like those who have lineages from Eastern European Jews. The disease is quite peculiar actually, it attacks nerve cells in the brain and development sort of just tapers off at around 6 months of age. It's always passed from parent to child but is very rare, according to The Mayo Clinic. The good thing is that it is easy to diagnose and that it's rare. So no need to worry, mom. Stay positive.
Spinal Muscular Atrophy, also known as SMA, is basically a misfiring of the brain that can cause some misalignment in the spine that results in a more curved little boy or girl. Unfortunately, spinal muscular atrophy is the leading fatal recessive disorder in infancy, meaning that it is pretty common and that genetic counseling is pretty essential for anyone who has been diagnosed with the disease, but, here's the thing, testing for the SMA gene in the first trimester as well as second trimester are very easy and readily available in most countries, especially the United States. The National Institutes of Health says that parents who don't test normally realize their little one may be at risk around 18 months of age, so be on the lookout.
Did you know that your ethnic background plays a huge role in what sort of genetic formations your little ones will have? Associations like the American Pregnancy Association say that ethnicity-based genetic screening is something that many families should consider. The results can tell families with all sorts of ethnic backgrounds what they may or may not be carriers for. "screening will determine if you are a carrier of genetic traits that can increase your chance of having children with disorders like anemia, including diseases known as “Thalassemia” if you have Africa (Black), Southeast Asia, Central American, Mediterranean region origins, or Cystic Fibrosis if you are of European (Caucasian/White), Ashkenazi Jewish (Eastern European Jewish) backgrounds. Pretty cool right?
Both mom and dad can pursue genetic testing to see what he or she may be a carrier for, this can really take some of the pressure off and really help pave out the baby discussion for both parents-to-be. Nervous? Don't be, genetic testing has become somewhat of the norm and it can be super informative to discover what you are a carrier for, mom or dad. Think of it like this, if genetic testing also said how likely your little one will develop dads dreamy blue eyes the two of you would be jumping over who will get tested first to see what traits your little one will have, well consider it about the same, just traits on the inside.
Whew! We have gone through some pretty intense bits of information so far. We're hoping that this entry will really help moms wipe off their brow and make them take a much needed load off. Here's the thing mom. Yes science is awesome, yes genetic screening is pretty accurate, yes getting genetic screening in the first and second trimester can really help narrow down and determine what mom dad and baby are carriers for, but here is the wonderful element many people leave out: what your baby may potentially have, even if your doctor has pulled some positive test results, still does not necessarily mean that your baby is 100% prone to get whatever he or she tested positive for.
For most of us, we may think that pregnancy is all about mom. But when it comes to genetic screening, that is just so not the case. If mom and dad are having the baby talk, it may be a good time to consider genetic counseling, at which point someone can ask your couple questions about your family history and medical background to determine if either of you should even consider testing. But the best part is, even if you wait until after you are pregnant, when it comes to genetic screening, it is always a good idea to get Dad screened as well, just in case, that way mom can find out if her partner is a carrier for one of the diseases.
Many doctors and nurses will tell you that after a certain age there are a few risks associated with having a baby that may require some genetic testing. If you feel like age is just a number, which is true if you refer to the number of women who have had successful pregnancies well over the haunting medical age of 35, feel free to disregard some of the risks that medical practitioners say are associated with age and babies. Some risks include gestational diabetes, placenta previa, breech positioning of the baby, emergency cesarean delivery, postpartum hemorrhage, preterm birth, low birth weight, and high birth weight. Whereas genetic risks increase as well, like having a baby with down syndrome.
There are so many different types of screenings available to mom and her baby when entering the world of genetic testing. It is important to just keep one thing in mind, though, through all of the questions, poking and probing that doctors and nurses may do during those 40 weeks of gestation. Any form of testing that you choose to do is personal and the choice is your own. Consider that technological advancements are wonderful in their own right but that no one forcibly must comply with testing. It all just depends on what you feel is right for you and your family. Embrace science and enjoy your pregnancy.
Many times one may hear what it means to be a carrier for a certain genetic malformation, but really it is just any person with one working copy and one non-working copy of the same gene for a particular disease. Being a carrier does not usually mean that much for one's own health or mean that you have or will have the disease. Not to worry, the only time a baby will probably get the disease is when both parents are carriers for the same genetic disease and even then there is only a 1 in 4 (or 25%) chance that the baby will have the disease.
Although there is a pretty open window of time for mothers who are considering genetic screening, obstetricians and gynecologists do not have a common practice of screening after the second trimester. If any more invasive tests like amniocentesis, need to be performed to get an accurate reading about the state of your baby, this will typically be done before 20 weeks of pregnancy. Many women, depending on their age, family history, and variable other factors, will get screened in the first and second trimesters just to have both results available to get the most accurate diagnosis concerning their little one.
There are a few genetic tests that can determine whether or not your little one will have medical issues with their facial features or facial construction. Scientists say there are several reasons a baby can have deformations of his or her facial features. One of the most common reason is that he or she may have down syndrome. Downs syndrome occurs when fetus has three copies of a chromosome, known as chromosome 21, instead of the standard two copies. Genetic screening can help determine whether or not your little one is at risk for this malformation. Genetic screenings can also determine what kind of Down Syndrome a baby may have, as there are several variations, according to The Mayo Clinic.
Sources: American Pregnancy Association, Web MD, Stanford Children's Health, The American College of Obstetrics and Gynecologists, Radio Graphics Institute, American Heart Association, The Mayo Clinic