This video shows Anencephaly and Encephalocele with a pregnancy of about 16 weeks.
An encephalocele is a rare disorder in which the bones of the skull do not close completely. This creates a gap through which cerebral spinal fluid, brain tissue, and the meninges (the membrane that covers the brain) can protrude into a sac-like formation.
An encephalocele forms when the neural tube does not close properly during gestation. A neural tube is a narrow channel that folds and closes to form the brain and spinal cord. The exact cause, however, is unknown. It usually occurs among families with a history of spina bifida and anencephaly.
Ultrasound images of the fetus can reveal the presence of a herniated, fluid-filled sac outside the skull. Encephaloceles that go undetected during gestation usually are diagnosed at birth by observation of the deformity.
Sometimes encephaloceles are detected during a routine prenatal ultrasound, as early as 13 weeks gestation. If an encephalocele is suspected on an ultrasound, a fetal MRI can provide all the detail necessary to confirm the diagnosis.
Symptoms of an encephalocele
Neurologic problems.
Hydrocephalus: Cerebrospinal fluid accumulated in the brain.
Spastic quadriplegia: Paralysis of the limbs.
Microcephaly: An abnormally small head.
Ataxia: Uncoordinated muscle movement.
Developmental delay.
Vision problems.
Mental and growth retardation.
Encephaloceles are usually dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in other family members.
Babies with a frontal encephalocele, no associated syndrome or defects, and no brain tissue herniating into the sac have a good chance of survival. Babies with an encephalocele at the back of the head have a 55 percent survival rate.
The remaining brain tissue is often exposed (not covered by bone or skin). Affected babies are usually blind, deaf, unconscious, and unable to feel pain. Almost all babies with anencephaly die before birth, although some may survive a few hours or a few days after birth.
Prognosis. There is no cure or standard treatment for anencephaly and the prognosis for patients is death. Most anencephalic fetuses do not survive birth, accounting for 55% of non-aborted cases. Infants that are not stillborn will usually die within a few hours or days after birth from cardiorespiratory arrest.
Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely.
Pregnancy after encephalocele
Hydrops fetalis is severe swelling (edema) in an unborn baby or a newborn baby. It is a life-threatening problem. Hydrops develops when too much fluid leaves the baby's bloodstream and goes into the tissues.
Anencephaly is also known as "open skull," is a birth defect in which the major parts of the brain, scalp, and skull of the fetus do not form completely as it is developing in the womb. Infants with anencephaly are stillborn in about 75 percent of cases. But newborns who survive die within several hours, days, or weeks.
Theoretically, Anencephaly can be diagnosed as early as 8 weeks; however, it may be missed in the first trimester. There is 100% accuracy in the second trimester for this diagnosis by ultrasound.
Anencephaly is when the neural tube fails to close at the base of the skull. Neural tube defects may be caused by genes passed on from both parents and by environmental factors. Some of these factors are obesity, uncontrolled diabetes in the mother, and intake of some medicines during pregnancy.
Anencephaly is the most severe form of cranial Neural tube defect (NTD) and is characterized by an absence of cortical tissue (although the brainstem and cerebellum may be variably present) as well as an absence of the cranial vault. The morphological spectrum within anencephaly ranges from holocrania (most severe form) to merocrania (mildest form).
As with many other malformations, a number of associated abnormalities are recognized:
other neural tube defects: spina bifida (especially cervical)
congenital heart defects
cleft lip/palate
diaphragmatic hernia(s)
spinal dysraphism
skeletal anomalies: e.g. clubfeet
gastrointestinal abnormalities: e.g. omphalocele
urinary tract abnormalities: hydronephrosis most common.
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