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Prenatal Genetic Screening Tests: What Are the Options and When to Have Them?

You just find out that you’re pregnant. Congratulations are in order of course. The nine months of pregnancy are a period of lots of anxiety, trepidation, and for first-time parents, a lot of firsts. The first ultrasound, the first kick in the belly… However, out of the many tests that you’ll be assigned to take during pregnancy, there are a few that are optional.

Yes, each semester of the pregnancy requires plenty of monitoring, tests, and guidelines to ensure the pregnancy is healthy for the mother and the baby. Every parent is hoping to have a healthy baby, and prenatal screening tests are a great way to be certain of that.

What Are Prenatal Genetic Tests?

They’re tests that are designed to give future parents information regarding the potential genetic disorders that their child might have. Most of the genetic disorders are inherited disorders from one or both parents, so it’s best to know them early in pregnancy. It’s worth noting here that genetic tests can be performed even before pregnancy, if both of the partners would like to ensure they’re not carriers of some genetic disorder. But for now, we’re going to focus solely on the prenatal ones.

There are two main types of prenatal genetic tests. Prenatal screening tests and Prenatal diagnostic tests. The former determines if the baby is likely (or has a risk) to have some birth defects, while the latter determines if a baby does have a birth defect. Diagnostic tests are the only way to establish a diagnosis, but both of these tests are optional.

First Trimester Screening Tests

The most common are the first-trimester screening tests. Otherwise known as Combined first-trimester screening (CFTS). Those can include tests that indicate the risk of Down syndrome (trisomy 21 or presence of an extra chromosome at position 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). The tests are compiled from blood work, a nuchal translucency (NT) screening ultrasound, mother’s age and weight determination, and the age of the pregnancy. They’re usually done between week 9 and week 13 of the pregnancy and yes. They are optional as well.

Prenatal Diagnostic Tests

These tests can determine with accuracy greater than 99.9 percent whether or not a developing baby has a chromosomal abnormality. Most commonly used one is amniocentesis. It is performed in the second trimester. Usually, if the first trimester screening test shows a certain level of risk for genetic disorder, or if the mother is older than 35 years, the doctor may recommend an optional diagnostic test.

Why Should You Have Prenatal Genetic Screening Tests?

Well, as we mentioned the tests are elective and depend on the personal preferences of the parents. However, there are many reasons why parents may choose to do these tests. One of those reasons is the family history of some of the genetic disorders. If one or both of the parents have a family member with some genetic disorder, there is high probability that their baby would inherit it as well. One more reason is if the expectant mother is over the age of 35, while another is if the mother has had a history of miscarriages or stillbirths.

Whatever you choose to do, it’s best to consult with your doctor first. The medical team will advise you on the types of tests and the options that you might have as the pregnancy progresses.

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Advice for mothers

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Importance of Folic Acid in Pregnancy?

What is Active Folic Acid and what are its advantages?

Here’s an interesting fact ladies. Folic acid is good for any woman. No matter the age, and it doesn’t matter if you’re trying to get pregnant or if you’re already pregnant.

Folic acid is especially important for pregnant women. You might ask why. Well, because A) it is not an acid per se, but a vitamin from the group B (B9). And B) because mother’s low level of folic acid is a risk factor for the development of neural tube defects in the developing fetus. The neural tube forms the baby’s brain and spinal cord, necessary for the structure and the proper function of the nervous system.

The realization that taking folic acid in the form of a dietary supplement reduces the percentage of defects to the nervous system of a newborn by more than 70% is one of the most important medical discoveries of the 20th century. So, you can understand why it is recommendable for pregnant women to take it.

It also is important to know that major development of the brain and spinal cord occurs in the first trimester of pregnancy. Those first 12 weeks are crucial and that’s why additional intake of folic acid is recommended during that period. Ideally, you’ll start taking folic acid at least 3 months before you get pregnant, but the general rule of thumb is… It’s never too early to start taking folic acid.

A beneficial effect is achieved with an additional daily intake of at least 400 micrograms of folic acid during one month before conception and during the first three months of pregnancy.

And what about Active Folic Acid?

Active folic acid is actually the form in which our body utilizes folic acid. This means that folic acid itself and folates from food are not biologically active. They must go through the process of conversion into the metabolically active form of 5-methyltetrahydrofolate (5-MTHF), with the help of the enzyme methylenetetrahydrofolate reductase (MTHFR). Part of the population, due to unique genetic patterns, has polymorphic forms of this enzyme and does not produce adequate or effective MTHFR.

By taking an active folic acid through a food supplement actually means that you are taking a readily prepared, biologically utilized form of folic acid and needn’t worry whether your body might or might not be having the right capacity to convert non-active forms to active folic acid.

Now, all active folic acid forms are not the same.

The Quatrefolic® form belongs to the fourth generation of folic acid. It is considered an innovative form of active folic acid, with high level of solubility in water, and by this is expected to have a high level of bioavailability which means high utilization in the body.

So, our dear ladies, if you are planning a baby, or you are already pregnant, your gynecologist or pharmacist will most probably recommend a food supplement specially developed for your needs. It is recommendable it contains an active form of folic acid, and Quatrefolic being the innovative one is expected to provide adequate amounts of folic acid to your body.

Advice for mothers

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Weight Gain in Pregnancy: How Much Is Normal?

First and foremost, let us put your mind at ease future mama. Weight gain in pregnancy is completely normal. There we’ve said it. All pregnant women go through it, and most likely you are as well. It is expected for a pregnant woman to gain between 10 and 12.5 kilograms, and most are putting the majority of the weight after week 20 in their pregnancy.

However, there’s one thing to consider when talking about weight gain in pregnancy. It’s important to maintain a healthy weight gain. That means eating healthy and nutritious food and staying active during the entirety of your pregnancy will ensure that the weight gain stays in the healthy weight gain range.

What Are the Possible Health Complications If You’re Having an Unhealthy Weight Gain?

Gaining too much weight during pregnancy may increase the chances of developing serious complications that can potentially be harmful to you and your baby. One such complication is hypertension which can occur during pregnancy, or even pre-eclampsia.

Gestational diabetes is another potential complication in pregnancy. It means you have too much glucose in your blood during pregnancy, and it may result in delivering a very large baby.

Nevertheless, even if no health issues may appear, the more weight you gain, the more difficult it would be for you to lose afterwards.

We already mentioned that gaining too much weight during pregnancy can be a problem. But at the same time gaining too little weight can become a possible problem as well. Gaining too little weight may result in the premature birth of your baby or the delivery of an underweight baby.

So, What’s Recommended for A Healthy Pregnancy Weight Gain?

Experts advise that you maintain a healthy and balanced diet during your pregnancy. They also recommend not eating more than additional 350 calories (on top of the usual recommended caloric intake for women) in the first and second trimesters. And they also recommend not eating more than additional 450 calories, during the final stages of your pregnancy.

The amount of calories changes if you’re pregnant with twins or other multiples so there needs to be a consideration to adjust your diet accordingly. You may also want to consider limiting the intake of processed foods and added sugars or fats in your diet. At the same time, try to stay physically active during the entirety of your pregnancy.

Another think to have in consideration when defining how much weight you should gain during your pregnancy is your starting BMI. The higher the BMI, the less weight you should gain, the lower the BMI, the more weight you should gain during pregnancy.

Talk to your health provider about any questions and concerns you might have. And enjoy your pregnancy. You’re at the start of one beautiful journey called motherhood and try to make the most of it during the 9 months of your pregnancy.

Advice for mothers

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Waking Up A Baby for Feedings: A Good or Bad Idea?

There’s an old saying: „Never wake up a sleeping baby “. And the older generations love to say it to new mothers, don’t they? But nowadays that old saying belongs solely in the past. New recommendations from the leading pediatricians and health providers say otherwise… We’ll get to that in a second.

Baby’s Sleep Is Different from Grown-Up Sleep

First and foremost, it’s important to understand that most babies sleep a lot in their first year. Like, a lot, lot. And that’s perfectly normal because they’re growing so quickly. Their brains and their bodies need rest and good sleep in order to properly develop.

Next, day and night confusion are quite common among babies, as your baby’s circadian rhythm is still underdeveloped. However, if your baby sleeps more during the day than at night, it can be a bit of a problem. You don’t want your child sleepy all day, and up all night? Well, then you have permission to wake up your sleeping baby if the day naps exceed the 3-hour mark.

Experts recommend that babies up to 12 months should sleep from 12 to 16 hours a day. Naps are included in this time of course. So, don’t be afraid to let your baby sleep. However, there are exceptions to this rule.

So, Is It A Good Idea to Wake Up Your Baby?

Yes. It’s perfectly OK to wake up your baby, and there are several instances where that is very much allowed.

As we mentioned previously, you should wake up a sleeping baby during the day, especially if the baby’s nap exceeded the 3-hour mark.

Most newborns need up to 12 feedings a day, which means they should nurse every two or three hours. Also, frequent feedings are good both for the baby and the mom. The baby is getting fed, while the mom is getting her milk supply regulated. Remember, breastfeeding is all about supply and demand. The more you breastfeed your child (or pump) the more milk you’ll produce.

The babies who are fed with formula may extend the stretches between 3 hours, but that’s only because the formula needs more time to digest in the baby’s little tummy.

Another thing to remember is that most babies tend to lose 10% of their birth weight after they’re born, so frequent feedings are recommended for getting to a healthy weight.

And finally, a good reason to wake up a sleeping baby is a dirty or wet diaper. You definitely don’t want to leave your baby in a dirty diaper for too long. It can cause a diaper rash, and it’s not pleasant for the baby.

But How to Stretch Your Baby’s Sleep During the Night?

Through consistency and routine. Before bedtime, set a routine and stick to it every night. You may try a calming bath, a diaper change, a new clean set of clothes, feeding, and then off to the crib. Also make sure not to get your baby into an overtired state. Because overtired, cranky, and fussy babies are not easy to settle. So, start the routine, follow your baby’s sleep ques, be consistent. Your baby will love it.

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