ICD-11 Codes
for LA00.0 - Anencephaly

Teodor Jurukovski January 1, 1970

Fact checked by: Teodor Jurukovski

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Understanding Anencephaly (ICD-11 Code LA00.0)

Anencephaly, identified by the ICD-11 code LA00.0, is a severe congenital anomaly characterized by the absence of a major portion of the brain, skull, and scalp. This condition arises from a failure of the neural tube to close properly during early embryonic development, typically between the 23rd and 26th day of gestation. As a critical neural tube defect, anencephaly is incompatible with life, and infants born with this condition usually survive only a few hours or days. Most pregnancies affected by anencephaly result in miscarriage or stillbirth.

Signs and Symptoms of Anencephaly

The presentation of anencephaly is typically evident during prenatal screening. Key indicators include significantly elevated levels of alpha-fetoprotein (AFP) detected in the mother's blood or amniotic fluid. Prenatal ultrasound examinations may reveal the absence of cranial vault structures and parts of the brain, such as the cerebral hemispheres and cerebellum. Exposed brain tissue without overlying skull or scalp is a hallmark feature. While newborns may exhibit reflex actions like breathing or responding to touch or sound, they lack consciousness, awareness, vision, and the ability to feel pain due to the absence of the cerebrum.

Causes and Risk Factors for Anencephaly

The precise causes of anencephaly are not fully understood, but it is considered a multifactorial condition resulting from a complex interplay of genetic and environmental factors. The primary event is the failure of the rostral (head) end of the neural tube to close. Key risk factors that can increase the likelihood of anencephaly or other neural tube defects include insufficient intake of folic acid (vitamin B9) before and during early pregnancy. Other contributing factors may include maternal diabetes, certain antiseizure medications (such as phenytoin, carbamazepine, and valproic acid), and opioid use during early pregnancy. While not typically inherited, a history of a previous neural tube defect in a prior pregnancy increases recurrence risk.

Diagnosing Anencephaly

Diagnosis of anencephaly is often made during pregnancy through routine prenatal screening tests. These include maternal serum screening, such as the quad marker screen, which detects elevated AFP levels. Detailed fetal ultrasound imaging is crucial for visualizing the extent of the cranial and brain malformations. In some cases, fetal magnetic resonance imaging (MRI) may be used for greater detail. Amniocentesis, a procedure to analyze amniotic fluid, can also detect high AFP levels and acetylcholinesterase, indicating a neural tube defect. If prenatal screening is not performed, the condition is typically diagnosed during a newborn's physical examination after birth.

Management and Support for Anencephaly

Currently, there is no cure or medical treatment for anencephaly. Management focuses on providing supportive and palliative care for the infant and comprehensive emotional and bereavement support for the family. Healthcare providers work with families to help them understand the diagnosis, prepare for the infant's short lifespan, and navigate the grieving process. Neonatal care teams offer compassionate support to help families say goodbye.

Synonyms and Related Conditions

Anencephaly is a specific type of neural tube defect. While often used interchangeably in some contexts, it is distinct from acrania, which involves the absence of the skull but may have some brain development. Related terms and specific types of anencephaly include meroanencephaly (partial development of the brainstem and midbrain) and holoanencephaly (complete absence of the brain), which is the most common form. Craniorachischisis represents the most severe form, involving the brain, skull, and spine.

Documentation and Coding Considerations for Anencephaly

For accurate medical record-keeping and billing, the ICD-11 code LA00.0 is used to denote Anencephaly. This code is reportable and essential for documenting the condition. When maternal care is provided for a known or suspected fetal abnormality like anencephaly, specific ICD-11 codes within the O35 category may also be relevant for maternal care documentation. Precise documentation of the diagnosis, including any associated findings or complications, is crucial for appropriate coding and reimbursement. The ICD-11 classification system provides specific codes for anencephaly and related anomalies, ensuring detailed reporting.