What is Anencephaly ?

Anencephaly The Anencephaly is a severe congenital malformation: Large parts of the brain and the skull roof are missing in the children who are concerned. Head has a typical shape like a frog head or toad head.

The Anencephaly is as the spina bifida which is called’’ neural tube defects.’’ Both neural tube defects are about equally common and occur as a result of a developmental disorder of the nervous system during the third to fourth week of pregnancy.

The exact causes for the emergence of anencephaly are not known.

As a possible trigger for a neural tube defects are for example:

  • A lack of folic acid in pregnancy,
  • Medicines consumed in pregnancy for epileptic seizures
  • Hereditary

Every pregnant woman can significantly reduce the risk of an anencephaly in the child by also taking folic acid in early pregnancy! However, pregnant women initially often do not know that they are pregnant. Therefore, it is advisable to take folic acid even at existing fertility. The diagnosis of anencephaly is possible during pregnancy using an ultrasound examination. Also a blood test in pregnant women is offered for early detection of gestation. An effective treatment against the anencephaly is not yet available. Affected children usually come stillborn or die shortly after birth.

Anencephaly Definition

The Anencephaly is  a malformation as a result of a developmental disorder in early pregnancy which is characterized by the absence of major cranial bones and brain parts. In the extreme cases, the function mass is found in children with Anencephalus, instead of the brain.

The term of Anencephaly is derived from the Greek, meaning ‘’without brain.’’

Thus,anencephaly is the most severe congenital malformation of the central nervous system (CNS: brain and spinal cord) at all. Due to the malformation of the affected  child’s head has a distinctive shape, which resembles a head of the frog or Toad head.

Frequency

Neural tube defects such as the Anencephaly and the spina bifida show geographical variations in frequency:Neural tube defects are often found in in Northern Ireland with 10 cases per 1,000 pregnancies, for example. 1 to 2 out of 1,000 pregnancies are affected in Central Europe.If a child borns with anencephaly , there is a risk of recurrence for a anencephalus or spina bifida by two to three percent.

After congenital heart defects and cleft lip-cleft palate tube defects are most common congenital malformations. Anencephaly and spina bifida occur with approximately equal frequency.


Anencephaly Causes

The anencephaly has its causes in a developmental disorder during early pregnancy: The embryo neural tube formation is disturbed and anencephalus occurs.

The neural tube represents an early stage of the Central nervous system (CNS: brain and spinal cord) and its environment (i.e. bone, muscle, connective tissue). From the lower section of the neural tube, the spinal cord and the vertebral column develop from the upper portion of the brain and the skull roof. The development is disturbed in this time which can cause various neural tube defects:

If the upper sections of the neural tube does not combine, this is a anencephaly.

If the closure of the neural tube is disrupted in the lower area, it is a spina bifida.

Anencephaly

The exact trigger for the developmental disorder which leads to a neural tube defect is unknown. However, several risk factors can promote the emergence of an anencephaly. Possible causes are of an increased risk, for example:

  • Especially folic acid deficiency of the embryo (for example due to a fault in folate metabolism of the mother)
  • Hereditary factors
  • Medication taken for seizures in pregnancy
  • First child at very young age
  • Late pregnancy

Anencephaly Symptoms

An Anencephaly is unmistakable due to its typical symptoms: Cranium and cerebrum are largely absent in a child with anencephalus. This gives the head a typical appearance which led to the term head of the frog or toad head the head. At the same time the eyes stand out at an Anencephaly often due to shallow eye sockets (known as Exophthalmos).

These typical symptoms for anencephaly are clearly visible even before birth by ultrasound.

Another possible symptom of anencephaly can be an increased amount of amniotic fluid (called polyhydramnios.)

Anencephaly is such a serious malformation that affected children are not viable. They come already stillborn in the majority or die during childbirth or shortly thereafter.


Anencephaly Diagnosis

Diagnosis is already possible before the child is born: As with any other neural tube defect can be detected with an ultrasound during pregnancy.It can be seen whether anencephaly is present or not.

This is especially anencephaly characteristic which absence of the skull roof is seen in the prenatal ultrasound and also the shape of the head.

In addition to the ultrasound, blood test can help in the case of anencephalus for the diagnosis. Triple Test can detect up to 80 percent of neural tube defects and is performed in the 16th week of pregnancy.


Anencephaly Treatment

There is not avaliable treatment for anencephaly. A baby with anencephalus is not viable; most children with neural tube defects such usually come already stillborn or die shortly after birth.

Anencephaly Treatment


Anencephaly Prognosis and Progress

Anencephaly occurs during embryonic development: The congenital malformation is a result of embryonic developmental disorder such as in the fifth week of pregnancy. A child with anencephalus ( “no brain”) has mostly brain.

With such serious malformations, life is not possible.Therefore, children die with anencephaly usually already in the course of pregnancy in the womb or shortly after birth.

If you are pregnant or planning a pregnancy, it is important also to take a folic acid supplement to minimize the risk of anencephaly for your child as much as possible.

International applies to all women of childbearing age who may become pregnant, general prevention of neural tube defects such as anencephaly of the recommendation is to take 0.4 milligrams of folic acid daily.

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