Anencephaly is a serious birth defect that affects roughly 1 in every 10,000 babies born worldwide. It is a severe and life-threatening condition that all parents should be aware of. It is essential to understand the causes and risk factors associated with the condition so individuals can take the necessary steps to lower their risk. In this article, we will discuss what anencephaly is, its associated risk factors, and how it can be prevented.
What is anencephaly?
This is a congenital disability in which a baby lacks parts of their skull and brain at birth. It is a form of neural tube defect (NTD) that occurs during the early stages of fetal development when the neural tube fails to close completely. This results in the baby being born without a large portion of their brain and the scalp and skull bones missing. Anencephaly is often fatal; babies born with it usually do not survive long after birth.
What causes anencephaly?
The exact cause of anencephaly is still unknown, but there are several factors that can increase the risk of this condition:
Genetics
A family history or genetic mutation may be linked to an increased chance of developing anencephaly in some cases.
Folic acid deficiency
Not getting enough folic acid before conception has been linked to higher rates of neural tube defects, including anencephaly.
Certain supplements
Taking certain antiseizure supplements while pregnant increases your chances of having a baby with this disorder.
Environmental exposure
Exposure to toxins, such as pesticides or radiation, could also play a role in causing this congenital disability.
How is anencephaly diagnosed?
Anencephaly is typically diagnosed during pregnancy through an ultrasound, although it can sometimes be detected before pregnancy if a woman undergoes genetic screening.
During an ultrasound, doctors look for the absence of a brain, skull, and scalp, all characteristic signs of anencephaly. Other methods to detect the condition include amniocentesis, fetal MRI, and fetal echocardiography.
When an anencephaly is diagnosed, doctors may suggest further tests to determine if any other anomalies are present. These tests may include:
Blood tests
To check for genetic disorders associated with anencephalies, such as trisomy 18 or Turner syndrome.
Chromosomal microarray analysis
To detect any chromosomal abnormalities that could indicate anencephaly.
Ultrasound
To look for any other anomalies, such as hydrocephalus or spina bifida.
Fetal MRI
To look for any further brain or skull defects associated with anencephaly.
Fetal echocardiography
To assess the baby’s heart and circulatory system for potential complications.
A diagnosis of anencephaly is not always straightforward, so it is essential for expectant mothers to discuss their options with their doctor. It is also crucial to remember that a positive diagnosis does not necessarily mean the baby will not survive; some babies with anencephaly can prevail for several months or even years after birth.
What is the prognosis for a baby with anencephaly?
The prognosis for a baby born with anencephaly is poor since it is the most severe form of the condition. Babies who survive long enough to be diagnosed often suffer from neurological symptoms that can include seizures, loss of motor control, extreme sensitivity to light and sound, and difficulty eating and drinking.
Without professional intervention, babies with anencephaly cannot live beyond infancy, as they usually do not have any sense of sight, hearing, smell, or taste. Even when given appropriate treatment, there is no cure for it. Treatment focuses on providing comfort and relieving symptoms during the short lives of these infants.
Can anencephaly be prevented?
The exact cause of anencephaly is unknown, so there is currently no way to prevent it. However, taking specific steps during pregnancy may lower the chances of the baby having the condition.
First, women should try to get adequate amounts of folic acid before and during pregnancy. Folic acid is essential for the development of the baby’s nervous system. Anencephaly risk may be reduced by taking folic acid before and during early pregnancy.
In addition, women should ensure that their environment is free from toxins or other contaminants. Exposure to certain toxins, such as certain insecticides and metals, has been linked to an increased risk of anencephaly. Women should also get regular prenatal care to help detect any problems early on in the pregnancy.
Finally, women should try to maintain a healthy lifestyle. Eating a balanced food regimen, exercising regularly, getting enough sleep, and reducing stress can help keep a woman healthy during pregnancy, reducing the chance of birth disorders.
Although there is no way to prevent anencephaly, taking such steps during pregnancy can help reduce the risk. It is important for women to talk to their doctor about ways to stay healthy during pregnancy to minimize any risk.
