Anencephaly: Symptoms, Causes and Treatment

Written by Medicover Team and Medically Reviewed by Dr Ravinder Reddy Parige , Neonatologists

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Anencephaly is a type of neural tube defect (NTD) where the neural tube fails to close properly. The neural tube is a precursor to the central nervous system, which comprises the brain and spinal cord. Due to this defect, infants born with anencephaly are usually missing large parts of the brain and skull.

The Biological Mechanism

The neural tube's development is a complex process that begins in the third week of embryonic development. Normally, the neural tube closes completely by the 28th day after conception.

However, in anencephaly, this closure is incomplete, leading to the brain tissue's exposure to amniotic fluid, which causes its degeneration.

What Are The Common Causes Of Anencephaly

The exact causes of anencephaly remain largely unknown, although several factors have been identified as potential contributors.

Genetic Factors: A family history of neural tube defects can increase the risk of anencephaly. Specific genes related to folate metabolism, such as MTHFR, have also been linked to a higher risk.
Nutritional Deficiency: Folate (vitamin B9) is essential for proper neural tube closure during early pregnancy. Lack of adequate folic acid intake before and during pregnancy significantly increases the risk of anencephaly.
Maternal Health: Conditions like diabetes in the mother can raise the likelihood of anencephaly. In addition, certain medications, such as anti-seizure drugs, and substances like alcohol and illicit drugs, can contribute to the risk.
Infections: Maternal infections during the first trimester, especially those affecting neural development, may interfere with the baby's brain development, leading to neural tube defects like anencephaly.

What Are The Symptoms And Warning Signs Of Anencephaly?

Anencephaly symptoms are typically detected through prenatal imaging, as the infant exhibits very few external signs while still in the womb. Common symptoms include:

Absence of brain structures: In the ultrasound, the baby's brain structures, such as the cerebrum and cerebellum, are not visible.
Defective skull and scalp: The baby's skull and scalp may also be incompletely formed, contributing to the condition.
Lack of brain function: Babies with anencephaly may be missing parts of the brain essential for life functions, making survival beyond birth almost impossible.

It's important to note that the symptoms of anencephaly are not typically visible in the mother but are diagnosed via ultrasound or other imaging techniques.

When to See a Doctor for Anencephaly?

Anencephaly is typically diagnosed before or at birth. A maternal-fetal medicine specialist or neonatologist should be consulted immediately upon diagnosis, as this condition requires urgent medical guidance and family support planning.

You should see a doctor if you have:

Abnormal results from prenatal screenings such as elevated AFP levels or unusual ultrasound findings.
A family history of neural tube defects requiring genetic counseling and folic acid evaluation.

Get medical help immediately if:

An ultrasound reveals the absence of fetal skull or brain structures during pregnancy.
A newborn is delivered with a visible absence of major skull and brain portions requiring immediate neonatal care.
The mother experiences complications during pregnancy associated with polyhydramnios linked to the condition.

These could be signs of a serious complication like Anencephaly, which needs urgent care.

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How is Anencephaly Diagnosed?

Anencephaly is usually detected during routine prenatal screening. A maternal-fetal medicine specialist uses imaging and lab tests to confirm the diagnosis early in pregnancy, allowing families to receive timely medical guidance and counseling.

Common diagnostic methods include:

Ultrasound scan (typically between 10-14 weeks) revealing absence of the fetal skull and brain structures.
Maternal blood tests measuring elevated alpha-fetoprotein (AFP) levels, which indicate neural tube defects.
Amniocentesis to analyze amniotic fluid for abnormal AFP and acetylcholinesterase levels confirming the defect.

After birth, diagnosis may involve:

Physical examination of the newborn identifying the visible absence of major portions of the brain and skull.
Imaging studies such as MRI or CT scan to assess the full extent of neural tissue absence.

Early and accurate diagnosis of Anencephaly helps families and doctors make informed care decisions promptly.

What Are The Treatment Options For Anencephaly?

Currently there is neither cure nor anencephaly treatment to reverse the effects of anencephaly. But treatment centers primarily around:

Prenatal Screening: Prenatal ultrasound may provide early diagnosis, allowing parents time to scope emotionally and logistically before the birth of a baby born with anencephaly.
Palliative care: If the baby is born alive, palliative care is started to provide the baby with as much comfort as possible during the short life.
Ethical Considerations: Families may be presented with options when it comes to anencephaly, continuing the pregnancy versus termination, based on personal, ethical and medical factors.

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What Are The Implications of Anencephaly?

Anencephaly in Adults

Although it's extremely rare, there have been isolated cases of individuals who survive into adulthood with a form of partial anencephaly. In these rare cases, the individuals typically experience:

Partial Development of the Brain: Some brain structures may be underdeveloped, which limits the individual's cognitive and physical abilities.
Extensive Medical Support: These individuals usually require lifelong medical and supportive care due to the absence of key neurological functions.

Anencephaly in Newborns

Newborns with anencephaly face significant challenges. These babies often die shortly after birth due to the lack of essential brain structures.

Life Expectancy: Most infants with anencephaly do not survive beyond a few hours or days due to the lack of critical brain functions.
Brain Function: Infants born with this condition will not develop normal brain functions and cannot process sensory information, control bodily functions, or form memories.

Prevention and Research

Efforts to prevent anencephaly focus primarily on addressing known risk factors and advancing research into potential causes and interventions.

Folic Acid Supplementation

The most effective preventive measure against anencephaly is adequate folic acid intake before conception and during early pregnancy. Public health campaigns promoting folic acid supplementation have significantly reduced the incidence of neural tube defects globally.

Ongoing Research

Research into the genetic and environmental factors contributing to anencephaly is ongoing. Advances in genomics and molecular biology hold promise for identifying new preventive strategies and therapeutic approaches.