anencephaly

Anencephaly is a severe birth defect where a baby is born without parts of the brain and skull. It is fatal and there is no cure or treatment.

The condition affects the development of the central nervous system, resulting in a grossly malformed brain and cranial vault. Anencephaly is characterized by the absence of major portions of the brain, skull, and scalp that occurs during embryonic development.

Some key features of anencephaly include:

• Absence of cranial vault and brain tissues in the fetus
• Small or missing brain hemispheres
• Grossly malformed brain and cranial vault
• No cure or treatment available

Anencephaly is considered an extreme form of neural tube defect, which affects the tissue that becomes the spinal cord and brain. It is one of the most common neural tube defects and is almost always incompatible with an infant's survival.

References:

• [1] Anencephaly is where a baby is without parts of the brain and skull at birth.
• [2] Anencephaly is a serious developmental defect of the central nervous system in which the brain and cranial vault are grossly malformed.
• [3] Oct 1, 2019 — Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull.
• [5] Sep 6, 2024 — Anencephalus (AN-en-SEF-ah-lus) is a severe neural tube birth defect that is almost always incompatible with an infant's survival.
• [8] Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus.

Anencephaly: A Severe Congenital Condition

Anencephaly is a rare and severe congenital condition that occurs when a fetus's brain, skull, and scalp do not develop properly. The symptoms of anencephaly can vary depending on the severity of the condition, but they often include:

• Absence of bony covering over the back of the head: This is one of the most distinctive features of anencephaly, where the bones that normally cover the back of the head are missing [2].
• Missing bones around the front and sides of the head: In addition to the absence of bones on the back of the head, there may also be missing bones on the front and sides of the head [3].
• Folding of the brain tissue: The brain tissue may appear folded or wrinkled due to the lack of skull coverage [2].
• No vision, hearing, or ability to feel pain: In severe cases of anencephaly, the baby may not have developed properly and therefore may not be able to see, hear, or feel pain [1].

Other Symptoms

In addition to these physical symptoms, babies born with anencephaly may also experience:

• Facial feature abnormalities: The facial features of a baby with anencephaly may appear abnormal due to the lack of skull coverage [8].
• Severe developmental delay: Babies with anencephaly often experience severe developmental delays and may not be able to develop normally [7].

Important Note

Anencephaly is a fatal condition, meaning that it is always fatal if left untreated. It is essential for pregnant women to receive proper prenatal care to detect any potential issues

Anencephaly can be diagnosed through various diagnostic tests, both during pregnancy and after birth.

Prenatal Diagnosis

During pregnancy, the following tests can help diagnose anencephaly:

• Quad Marker Screen: This blood test checks for neural tube defects and other genetic conditions. It measures levels of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), estriol (E3), and inhibin-A in the mother's blood.
• Ultrasound: An ultrasound examination can reveal signs of anencephaly, such as a lack of brain tissue or a flattened head shape. The test is usually performed between 15 and 22 weeks of pregnancy.
• Amniocentesis: This test involves inserting a needle through the mother's abdomen to collect amniotic fluid, which is then analyzed for chromosomal and genetic disorders.

Postnatal Diagnosis

After birth, anencephaly can be diagnosed through physical examination. The baby's head may appear flattened due to abnormal brain growth and missing bones of the skull.

Diagnostic Tests Performed During Pregnancy

The following tests are performed during pregnancy to evaluate a baby for anencephaly:

• Alpha-fetoprotein (AFP) test: This blood test measures levels of AFP, a protein produced by the fetus.
• Ultrasound examination: An ultrasound may reveal too much fluid in the uterus, which can be a sign of anencephaly.

Other Tests

In addition to these tests, other exams and procedures may be performed to confirm the diagnosis of anencephaly. These include:

• Physical exam: A physical examination of the baby after birth can help diagnose anencephaly.
• Blood test: A blood test called a quad screen can check for neural tube defects and other genetic conditions.

References: 1. [5] - After birth, a diagnosis is made by physical exam. The baby's head often appears flattened because of the abnormal brain growth and missing bones of the skull. 2. [6] - Exams and Tests ... An ultrasound during pregnancy is done to confirm the diagnosis. The ultrasound may reveal too much fluid in the uterus. This condition is ... 3. [7] - Diagnostic tests performed during pregnancy to evaluate your baby for anencephaly include: alpha-fetoprotein: a protein produced by the fetus that is ... 4. [8] - The diagnosis of anencephaly may be made during pregnancy. Tests done during pregnancy to check for anencephaly include: Blood test. A test called a quad ...

Unfortunately, there is no effective drug treatment for anencephaly.

Anencephaly is a congenital disorder where the brain and bones of the skull do not form completely in the womb, making it impossible to treat with medication.

• According to various medical sources [1, 2, 3], supportive care is provided to keep the baby as comfortable as possible, but there is no cure or standard treatment for anencephaly.
• The condition is fatal, and most babies born with anencephaly do not survive beyond a few hours, days, or weeks after delivery [4, 5].
• Grief counseling services are available to help parents cope with the loss of their child [6].

It's essential to note that while there may be no drug treatment for anencephaly, medical professionals will provide emotional support and care to families affected by this condition.

References:

[1] Context result 2: "There is no cure or standard treatment for anencephaly. Treatment is supportive."

[2] Context result 5: "There is no cure or standard treatment for anencephaly. Treatment is supportive."

[3] Context result 6: "Therefore, only supportive treatment is recommended and applied to patients with anencephaly."

[4] Context result 8: "Babies that survive until birth rarely live longer than a few hours or days."

[5] Context result 10: "About 75 percent of infants are stillborn and the remaining 25 percent of babies die within a few hours, days, or weeks after delivery."

The differential diagnosis of anencephaly, a severe congenital condition where a major portion of the brain, skull, and scalp is absent, includes several conditions that can mimic its presentation.

• Amniotic band syndrome: This condition involves the entrapment of fetal parts by amniotic bands, which can cause various abnormalities, including cranial defects. If the band passes through the head, it can resemble anencephaly [3].
• Severe microcephaly: This is a condition