Overview

Anencephaly is a serious birth defect that occurs in the early stages of fetal development. The condition is considered fatal and most babies born with anencephaly will not survive long after birth. Anencephaly can be diagnosed during pregnancy through ultrasound or prenatal testing such as amniocentesis or chorionic villus sampling. There is no cure for anencephaly and treatment is focused on providing comfort and support for the baby and family.

What is Anencephaly?

Anencephaly is a serious birth defect in which the brain and skull do not fully develop. Infants born with anencephaly are usually born without a forebrain and cerebrum, the parts of the brain responsible for thought, sensation and movement. They also have an underdeveloped or missing skull and scalp. The condition is fatal, and most infants born with anencephaly do not survive long after birth.

How Many Babies are Born with Anencephaly? 

The exact number of babies born with anencephaly is not known, as it varies depending on the population and the methods used to detect and diagnose the condition. However, it is estimated that anencephaly occurs in about 1 in every 10,000 live births in the United States. It is considered a relatively rare condition.

What causes Anencephaly?

Anencephaly is caused by a neural tube defect (NTD), which is a problem with the development of the brain and spinal cord that occurs early in pregnancy. The exact cause of NTDs is not fully understood, but it is believed to be a combination of genetic and environmental factors.

Research suggests that certain genetic mutations, as well as a lack of certain nutrients such as folic acid, may play a role in the development of NTDs. Environmental factors such as exposure to certain toxins or viruses may also contribute.

Women who are pregnant or planning to become pregnant can reduce the risk of NTDs by getting enough folic acid, maintaining a healthy diet and weight, and avoiding certain environmental toxins.

Which children are at risk for anencephaly?

Anencephaly is a rare condition that occurs during early pregnancy, when the neural tube (the precursor to the brain and spinal cord) does not properly form or close. Certain groups of children are considered to be at higher risk for anencephaly:

• Children born to mothers with a history of neural tube defects, such as anencephaly or spina bifida, are at higher risk for the condition.
• Children of mothers who have diabetes or obesity may be at higher risk for anencephaly.
• Children of mothers who take certain medications, such as valproic acid, during pregnancy may be at higher risk for anencephaly.
• Children of mothers who are lacking of certain nutrients, such as folic acid, during pregnancy may be at higher risk of anencephaly.

Additionally, research suggests that there may be a genetic component to the development of anencephaly, so children with a family history of neural tube defects may be at higher risk for the condition.

It is important to note that most cases of anencephaly occur in babies without any known risk factors, and the cause of the condition is often unknown. However, taking folic acid supplement before and during early pregnancy can help reduce the risk of neural tube defects such as anencephaly.

How does anencephaly occur?

Anencephaly occurs during the early stages of pregnancy, specifically during the formation of the neural tube. The neural tube is a structure that develops in the embryo and eventually forms the brain and spinal cord.

Normally, the neural tube forms and closes by the 28th day of pregnancy. However, in cases of anencephaly, the neural tube fails to close properly at the top of the head, leaving the brain and skull underdeveloped.

It is thought that a combination of genetic and environmental factors can lead to the neural tube not closing properly and result in anencephaly. These factors include genetic mutations, a lack of certain nutrients such as folic acid, and exposure to certain toxins or viruses.

It's important to note that anencephaly is a rare condition, it occurs in about 1 in every 10,000 live births.

What are the symptoms of Anencephaly?

Anencephaly is a serious birth defect that occurs in the early stages of fetal development, and it is characterized by the partial or complete absence of the brain and skull. Therefore, the symptoms of anencephaly are primarily related to the absence of brain function. Some of the symptoms of anencephaly may include:

• No cranial vault (absence of skull)
• No brain tissue present in the skull
• Brain stem present but no cerebrum or cerebellum
• No scalp or cranial bones above the level of the eyes
• No ability to feel pain
• No ability to see, hear, think, or move
• Poor muscle tone and reflexes
• Difficulty breathing and feeding
• Seizures

It is important to note that anencephaly is a fatal condition, and most babies born with anencephaly will not survive long after birth. In some cases, the baby may survive for a short period of time, but will not be able to experience consciousness or have any cognitive function.

It is important to diagnose the condition as early as possible during pregnancy, to provide the parents with the necessary information and support they need to make difficult decisions.

How is Anencephaly diagnosed?

Anencephaly is typically diagnosed during pregnancy through ultrasound imaging. The absence of a large portion of the brain and skull can be seen on the ultrasound. Additionally, the diagnosis can also be confirmed through other prenatal tests such as amniocentesis or chorionic villus sampling (CVS). After birth, the diagnosis can be confirmed through physical examination and imaging tests such as CT or MRI scans.

Can Anencephaly be treated?

Anencephaly is a congenital disorder in which a baby is born without a major portion of the brain and skull. There is no cure or treatment for anencephaly, and affected infants usually die shortly after birth. In some cases, a baby with anencephaly may survive for a short time but will not be able to survive without life support.

Caring for a baby with anencephaly is primarily focused on providing comfort and support for the baby and the family.

Medical care:

• The baby's medical care will be focused on providing symptom relief and preventing complications.
• The baby will be unable to eat or breathe on its own, so a feeding tube and ventilator may be used to provide nutrition and support breathing.
• Medication may be given to control seizures or manage other symptoms.

Emotional and psychological support:

• It can be difficult for parents and family members to cope with the diagnosis of anencephaly, and they may need emotional and psychological support.
• Grief counseling may be recommended for parents and family members.
• Support groups are a great way to connect with others who understand what you're going through and can offer practical advice and emotional support.

Palliative care:

• Palliative care is a type of care that focuses on providing comfort and relieving suffering for people with serious illnesses.
• Palliative care can help parents and family members understand the baby's condition and what to expect, as well as help them make difficult decisions.
• Palliative care may be provided in the hospital, hospice, or at home.

End of life care:

• Most babies born with anencephaly will not survive long after birth, so end-of-life care will be important.
• Parents and family members can make the decision about what type of end-of-life care they would like for their baby.
• The care should be focused on providing comfort and support for the baby and the family during this difficult time.

It is important to keep in mind that each case is different and the care provided should be tailored to the specific needs of the baby and the family. The medical team will work closely with the family to provide the best possible care and support.

How can I prevent Anencephaly?

There is no guaranteed way to prevent anencephaly, as it is a congenital disorder that occurs during embryonic development. However, there are some steps that can be taken to reduce the risk of certain neural tube defects, including anencephaly, such as:

Taking folic acid supplements before and during pregnancy. 

This can help to prevent neural tube defects by providing the body with the necessary nutrients to form a healthy brain and spinal cord.

• Avoiding certain medications and substances during pregnancy, such as anti-seizure medications and alcohol, as they can increase the risk of neural tube defects.
• Maintaining a healthy weight before and during pregnancy. Obesity increases the risk of neural tube defects.
• Having regular prenatal care throughout pregnancy to monitor for any issues and address them as soon as possible.

It's also important to note that even with these precautions, anencephaly can still occur and it is not necessarily caused by something the mother did or didn't do.

What is the outlook for babies who have Anencephaly?

The outlook for babies born with anencephaly is poor, as the condition is incompatible with life. Anencephaly is a congenital disorder in which a baby is born without a major portion of the brain and skull. Babies with anencephaly usually die within a few hours or days after birth. In some cases, a baby with anencephaly may survive for a short time but will not be able to survive without life support.

Due to the severity of the condition, most babies with anencephaly are stillborn or die shortly after birth. It's important to remember that anencephaly is not caused by something the mother did or didn't do and it is not a reflection of the quality of prenatal care received.

Families who have a baby with anencephaly may want to consider palliative care, which is specialized care that focuses on providing comfort and support to the baby and family during this difficult time. This may include providing pain management, emotional and spiritual support, and end-of-life care.

What questions should I ask my provider about Anencephaly?

If you have been told that your baby has anencephaly or if you have a high risk of having a baby with anencephaly, there are several questions you may want to ask your healthcare provider to help you understand the condition and what to expect:

• Can you explain what anencephaly is and how it affects my baby's brain and skull development?
• How did this happen? Are there any known risk factors or causes?
• What are the chances of my baby surviving after birth?
• What are the options for delivery and what are the risks and benefits of each?
• Is there any treatment or cure for anencephaly?
• Can you provide more information on palliative care options for my baby and our family?
• What resources are available for emotional and psychological support for me and my family during this difficult time?
• Are there any genetic or chromosomal disorders that are associated with anencephaly?
• Can you refer me to a specialist or support group that can help me and my family cope with this diagnosis?

Anencephaly vs. Microcephaly

Anencephaly and microcephaly are two different birth defects that affect the development of the brain.

Anencephaly is a serious condition in which the brain and skull do not fully develop. It is characterized by the absence of the brain's cerebral hemispheres, the cerebellum, and the cranial vault. This results in a baby being born without a fully formed brain and skull, and most babies born with anencephaly will not survive long after birth.

Microcephaly, on the other hand, is a condition in which a baby is born with an abnormally small head and brain. The brain is smaller than it should be due to a lack of proper development during pregnancy. Microcephaly can result in developmental delays and intellectual disabilities, but the severity of the symptoms can vary widely. Some children with Microcephaly may have normal intelligence and develop normally, while others may have severe intellectual or developmental delays and neurological problems.

Both conditions are caused by problems that occur during the early stages of fetal development, and both can be diagnosed through ultrasound or prenatal testing. However, the symptoms, prognosis, and treatment options for the two conditions are quite different. Anencephaly is a fatal condition with no cure, while Microcephaly can have a wide range of outcomes, from mild to severe.

Future pregnancies for Anencephaly

If a couple has had a baby with anencephaly, they may be concerned about the risk of the condition happening again in future pregnancies. The risk of recurrence of anencephaly depends on the underlying cause of the condition. In some cases, the cause may be a genetic or chromosomal abnormality, in which case the risk of recurrence may be higher. In other cases, the cause may be environmental or due to a lack of folic acid intake during pregnancy, in which case the risk of recurrence may be lower.

It is important for couples who have had a baby with anencephaly to speak with a genetic counselor or a specialist to understand the risk of recurrence and the available options for future pregnancies.

If the couple decides to have another pregnancy, close monitoring by an obstetrician and/or a perinatologist is highly recommended. The obstetrician will be able to provide the couple with information and support during the pregnancy and will be able to monitor the baby's development closely.

Conclusion 

Anencephaly is a serious birth defect in which the brain and skull do not fully develop. It is a fatal condition and most babies born with anencephaly will not survive. It is caused by a problem with the neural tube, the structure that eventually becomes the brain and spinal cord, during the early stages of fetal development. It can be diagnosed during pregnancy through ultrasound or prenatal testing. There is no cure for anencephaly, and treatment is focused on providing comfort and support for the baby and family. It is important for women of childbearing age to get enough folic acid to reduce the risk of neural tube defects, including anencephaly.