Oh, sometimes we get so sad and shocked by the things we hear, don't we? Especially when it's about a new baby coming into this world. Today we're going to talk about a rare condition that's a bit sensitive, but it's very important for us to be aware of. We call this Iniencephaly.
So, what is Iniencephaly?
Simply put, Iniencephaly is a complex congenital condition . It mainly affects the baby's head, neck, and spine. Babies born with this condition can have a very short neck, or even no neck at all. They can also have a bent back head and spinal deformities. Imagine how difficult this is. Often, in addition to these main problems, there may be some abnormalities in other systems of the baby's body, such as the heart and lungs.
Most often, babies born with this condition die before birth, either in the womb or shortly after birth. Very rarely, a baby with a less severe condition may live for a long time.
How common is this condition?
Iniencephaly is actually a very rare condition. That means it doesn't happen very often. Scientists first reported the condition as far back as 1836. According to current data, it is estimated that this condition occurs in about one to one hundred babies out of every hundred thousand. However, these estimates vary. Another thing is that this condition is also said to be slightly more common among female babies.
How does iniencephaly occur?
Let's see how this Iniencephaly occurs. This is actually a birth defect of the nervous system . Doctors call this a ``Neural Tube Defect''. Did you know that the first few weeks after conception are very important? It is during this time that the ``neural tube'', through which the baby's brain, spinal cord, and spinal cord (the main nerve that runs through the spinal cord) begin to form, is formed. Normally, by the third or fourth week of pregnancy, this neural tube is completely closed, and the nervous system should develop properly. However, in the case of Iniencephaly, for some reason this process is interrupted, and the nervous system does not develop properly.
What are the causes of iniencephaly?
It's hard to say exactly what causes it. Doctors believe that it's a combination of genetic (i.e. inherited) and environmental factors. In some cases, chromosomal abnormalities, such as `(Monosomy X)`, `(Trisomy 13)` and `(Trisomy 18)`, have been found to be associated with it.
Additionally, certain environmental factors during pregnancy can also increase this risk. These include:
- Folic acid deficiency: This is a very important issue. We will talk about this further.
- Alcohol use: Drinking alcohol during pregnancy.
- Smoking: That means things like smoking cigarettes.
- Diabetes Mellitus: The mother has uncontrolled diabetes.
- Obesity: The mother's body weight is much higher than the recommended amount.
- Use of certain medications: Certain medications are used, especially in early pregnancy. Examples include sulfa drugs, antiseizure drugs, diuretics, and antihistamines.
The most important thing is that if your baby had a neural tube defect in a previous pregnancy, the risk is slightly higher in your next pregnancy.
How is Iniencephaly diagnosed?
As soon as the baby is born, doctors can diagnose the condition of iniencephaly by looking at the baby's skull and spine. That is, they can tell by the outward signs . If the baby survives for a long time, the doctor can use tests such as ultrasound, CT scan, and MRI to better assess the condition and decide what treatment is available.
Can't this be detected before the baby is born?
Yes, this is a very important question. There are several tests that can detect neural tube defects, such as iniencephaly, even before the baby is born, that is, during pregnancy . Your doctor may recommend these tests as part of a routine checkup, or if they think your pregnancy is at risk.
- Prenatal ultrasound: This is the scan we are all familiar with. It uses sound waves to take pictures of the baby in the womb. The doctor uses this scan to look closely at the baby's head, neck, and spine to check for any abnormalities.
- Quad marker screen: This is a blood test done on the mother. It looks for several hormones and proteins. One important protein that is looked at is alpha-fetoprotein (AFP). This AFP is made by the baby. It then passes into the mother's blood. If the level of AFP in the mother's blood is very high, it may indicate that the baby may have a neural tube defect.
- Amniocentesis: In this test, the doctor uses a thin needle to remove a small amount of the amniotic fluid that surrounds the baby. The lab measures the level of AFP in this amniotic fluid, and also does a test called ``Karyotype testing'' to check for chromosomal abnormalities. Both of these tests can give an idea of whether there is a neural tube problem and what the cause is.
- Fetal MRI: This is also a type of scan. It uses radio waves and a strong magnetic field to produce very clear, detailed images of the baby's bones and tissues. The best part is that an MRI scan does not expose the baby to radiation.
It is very important to diagnose this condition as early as possible . When diagnosed early, doctors can explain the baby's condition to the family and provide the parents with the necessary psychological support. If the pregnancy continues, these abnormalities can also pose some risks to the mother during childbirth.
What are the treatments for Iniencephaly?
In fact, there is no specific treatment for this condition, Iniencephaly. The vast majority of babies with this condition die either during pregnancy, in the womb, or within a few hours of birth. This is a very sad situation. Doctors and health workers provide the necessary support to the family to cope with this grief and cope with it.
Very rarely, meaning a very small number of babies survive for long periods of time, doctors treat each baby individually, based on the symptoms that arise at that time.
Can folic acid prevent this?
This is the most important thing we all need to be aware of . The most important thing you can do to prevent neural tube defects, including anencephaly, is to take folic acid before and during pregnancy . Folic acid is a B vitamin. It is essential for the production of new cells in our body.
Research has found that taking 400 micrograms (mcg) of folic acid per day can reduce the risk of neural tube defects by about 70% . It is very important for all women of childbearing age to take this amount every day. There are two reasons for this:
- Many pregnancies are not planned.
- Neural tube defects occur in the first few weeks of pregnancy, when many people don't even know they're pregnant.
So, if you are expecting a baby, or are of childbearing age, be sure to talk to your doctor about folic acid. If you are planning to get pregnant, ask your doctor to recommend a specially formulated prenatal vitamin that contains folic acid.
Women who have had a previous baby with a neural tube defect and are expecting another baby may need even more folic acid. The U.S. Centers for Disease Control and Prevention (CDC) recommends taking 4,000 micrograms (4 milligrams) of folic acid daily, starting one month before conception and continuing through the first three months of pregnancy. However, it is not a good idea to take too much folic acid . Therefore, be sure to consult your doctor before increasing your folic acid intake.
What else can be done to reduce the risk?
In addition to taking folic acid, there are several other things you can do to reduce the risk of anencephaly:
- Avoiding certain medications that are known to cause neural tube defects. (Talk to your doctor about this.)
- Stopping alcohol consumption completely.
- Maintaining a healthy body weight for you.
- If you have diabetes, it is important to control it well.
- If you smoke, stop.
What is the outlook for iniencephaly?
Iniencephaly is a very complex genetic condition. Therefore, the outcome of this condition is often not very good . Many pregnancies end in miscarriage or stillbirth. Even if the baby is born alive, there is a high chance that it will die within a few hours.
As of 2019, only eight babies in the world have survived long-term with the condition iniencephaly. Four of these have undergone surgery, and the treatment has reportedly been successful. However, this is a very rare occurrence.
How to plan a healthy pregnancy?
If you are of childbearing age, it is important to take 400 micrograms of folic acid daily, even if you are not trying to get pregnant. Because about half of all pregnancies are unplanned, neural tube defects, including anencephaly, occur before many people even know they are pregnant, and folic acid can prevent these.
Those planning a pregnancy should definitely see a doctor and get preconception counseling . During this appointment, your doctor will review all of your risk factors and recommend steps you can take to have a healthy pregnancy.
The most important things we need to remember from this story are
Okay, so we hope you have some idea about the Iniencephaly we talked about. Although this is a very rare and complex condition, it is very important for us to be aware of it.
Remember, it is very important for all women who are expecting children to get adequate folic acid before becoming pregnant and during the first three months of pregnancy.
This can significantly reduce the risk of neural tube defects such as iniencephaly. It is also very important to lead a healthy lifestyle, avoid alcohol and smoking, and control conditions such as diabetes. If you have any questions or doubts, be sure to talk to your doctor. They will give you the necessary advice.
` Iniencephaly, birth defect, neural tube defect, folic acid, pregnancy, congenital
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