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Approximately 1 in every 20,000 babies born in the United States are born with Acrania-Anencephaly
Acrania-Anencephaly: A Neural Tube Defect
Within medical research there are two types of Acrania. Acrania-Anencephaly and Isolated Acrania
Acrania-Anencephaly: (A Neural Tube Defect): Acrania-Anencephaly is a Neural Tube Defect characterized by a cranial vault that is completely or partially absent and the cerebrum/brain tissue is still present. Throughout the pregnancy the cerebral tissue begins to deteriorate leaving Anencephalic features.
Isolated Acrania: (developmental anomoly) Isolated Acrania is a developmental anomoly characterized by a partial or complete absence of calvarium, with complete but abnormal development of brain tissue.
2 Types of Acrania: Acrania-Anencephaly & Isolated Acrania
Acrania-Anencephaly is believed to be a Neural Tube Defect (NTD) that occurs between the 17th and 30th day of pregnancy (4th-6th week after the womans last menstrual period), often before the mother even knows she is pregnant.
According to the Center of Disease Control, more than 300,000 babies worldwide are born with a NTD making NTDs the leading cause of defects in developing infants.
Spina Bifida and Anenephaly are the two most common defects
Acrania-Anencephaly effect about 1 out of every 20,000 births and is often misdiagnosed and/or associated with Anencephaly
Acrania and Acrania-Anencephaly can be diagnosed as early as 12 weeks and is considered life-limiting. Because of this, many parents choose to terminate their pregnancy and depending on the state, these births and defects aren't recorded in a state or national census. The 1 out of every 20,000 births reflects babies that were born after 20 weeks of gestation. It is believed that this number is actually much higher and that Acrania-Anencephaly effects more families each year than what the numbers portray.
Acrania can also be misdiagnosed as Anencephaly since the two are so closely related.
The Neural Tube begins as a flat pancake-like structure of cells that folds into itself. As its folded edges meet they begin to seal, creating a tube. As this tube forms and closes, it forms the baby’s brain and skull (upper part of the neural tube) and the spinal cord and back bones (lower part of the neural tube). Acrania occurs when the upper part of the Neural Tube does not completely close. This results in the bones of the cranial vault being completely or partially absent. The migration of mesenchyme (cells that develop the bone and cartilage of the skull) do not occur and because of this the the dura mater, skull, and all involved muscles (known as the nuerocranium) are never formed. However, cerebral hemispheres develop but because the nuerocranium isnt present the hemispheres it will not differentiate and they will morph into a single mass that will not be able to sustain life.
A baby is said to have Acrania and/or Acrania-Anencephaly if the baby should have a perfectly normal facial bone, a normal cervical column but without the fetal skull and a volume of brain tissue equivalent to at least one third of the normal brain size.
Image above: A series of pictures illustrating the development of the Neural Tube between days 21-28. The final image (day 28) shows an opening along the folded edge of the Neural Tube which results in a Spina Bifida Defect. An opening like this, but at the head of the Neural Tube and the development of cerebral tissue would result in an Acrania defect.
In some cases babies that are diagnosed with Acrania are rediagnosed or have an additional diagnosis of Anencephaly. As the brain is exposed to the Amniotic Fluid it may begin to deteriorate leaving only a brain stem at the time of delivery (Anencephaly) Acrania-Anencephaly
The degree of functionality of an Acrania baby's brain can not be determined until the baby is born.
The brain is the central part of the nervous system that is responsible for movement, thought, learning, memory, language, and emotion. Once diagnosed, the visable tissue or developed parts of the brain/cerebrum are left unprotected because of the absence of the nuerocranium. The nuerocranium protects the brain/cerebrum during the babies development and life. This leaves the babies brain exposed to the amnitotic fluid which makes it vulnerable to more damage and detereoration while in the womb.
Extensive research needs to be conducted on the brain development in Isolated Acrania, the process of deterioration during development from Acrania to Anencephaly, and the development of an Acrania babies brain and the effects to the brain/cerebrum's function after being exposed to amniotic fluid.
Acrania is a developmental anomoly characterized by a partial or complete absence of calvarium, with complete but abnormal development of brain tissue.
Babies are diagnosed with Acrania when it is clear that the cranial vault is completely or partially absent and the cerebrum/brain tissue is still present.
It is believed that a baby diagnosed with Acrania has a Neural Tube that did not seal at the top. Then the migration of mesenchyme (cells that develop the bone and cartilage of the skull) does not occur. Because of this, the the dura mater, skull, and all involved muscles (known as the nuerocranium) are never formed. However, cerebral hemispheres develop. But because the nuerocranium is not present to shape the hemispheres, the hemispheres will not differentiate and they will morph into a single mass that will not be able to sustain life.
Acrania is often misdiagnosed or associated with Anencephaly. Both result in an opening in the cranium. However, Anencephaly babies are seen with little to no brain structure upon their diagnosis. Acrania babies are seen with their brain structure intact upon diagnosis.
Around 18 weeks Luca had a scan to review the anatomy of his head so that we could better undertand what was missing and exactly why his diagnosis was deemed fatal. It was discovered that Luca had a fully intact brain and he was rediagnosed with Acrania-Anencephaly. In the images Above you can clearly see a mass protruding from the opening in his cranium. This is Luca's brain and the doctors advised us that it would deteriorate.
The Acrania Defect Continued
Luca's Brain Mass
Luca's Brain Mass
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Acrania-Anencephaly can be detected and confirmed as early as 12 weeks during the pregnancy by ultrasound technology. Ultrasound produces an image of the growing baby and the missing bones of the cranial vault/curve are clearly visable as well as the brain tissue at 12 weeks gestation. (See image below)
An infant is said to have Acrania-Anencephaly if it is clear that the cranial vault is completely or partially absent and the cerebrum/brain tissue is still present. Throughout the pregnancy the cerebral tissue begins to deteriorate leaving Anencephalic features.
Acrania-Anencephaly can also be detected in the second trimester of pregnancy by a Maternal Serum Screen which is a simple blood test. It is also known as a “triple screen” or “quad screen” depending on the number of proteins measured in the mother’s blood. For example, a quad screen tests the levels of 4 proteins AFP (alpha-fetoprotein), hCG, estriol, and inhibin-A. If the Mother's test comes back with high levels there is a chance that the Mother is carrying a child with a NTD. Further testing then needs to be done to confirm if the high levels indeed mean the child has a NTD.
Acrania-Anencephaly can also be detected at birth. It is a clearly visable birth defect.
Image above shows Luca's fully intact brain floating in the amniotic fluid. It is unprotected by bone or skin and left exposed to the harsh environment of the womb.
How is Acrania-Anencephaly Diagnosed?
The exact causes of Acrania-Anencephaly are not fully known but It is believed that Acrania-Anencephaly is a Neural Tube Defect and is caused by mulitple factors from the childs genetic make-up, environment, and mothers behavior.
Genetics: This means that the child inherits the gene through their parents.
Environment: These are things that you come in contact with everyday that could be harmful to your pregnancy. i.e.: Chemicals, cigarette smoke, polluted water
Behavior: These are activities that the Mother partakes in while pregnant. i.e.: Drinking alcohol, sitting in a hot tub, taking certain medication
Research is being conducted at Duke University Medical Center to understand more about the genetics of an Anencephaly baby. They also collect data on the Mothers Environment and Behaviors to help better understand the causes of Anencephaly and Acrania-Anencephaly. Their hope is that their research will lead to more accurate screening. better prevention, and one day a cure. To learn more about the study and to see how you can participate click