Anencephaly

Anencephaly also known as Anencephalia, Anencephalus or Aprosencephaly is a serious condition that develops during the first month of pregnancy, before woman knows she is pregnant. It’s a birth defect of a very serious nature caused by neural tube defect (NTD). Read more about Anencephaly in the sections below:

Definition

Anencephaly
Neural tube birth defect (NTD) preventing normal brain and skull development resulting in baby being born without parts of the skull and the brain.

What is Anencephaly?

In a normal pregnancy, the a neural tube forms and closes and thus the baby’s brain and skull are able to fully form. In babies with Anencephaly however, the upper part of the neural tube fails to form during first few weeks of embryonic development, which results in the baby often being born with missing forebrain (the front part of brain) as well as missing cerebrum (the part of the brain responsible for thinking and coordination). The part of the brain that does form is often covered with bone or skin.
The neural tube’s failure to properly close results in the developing brain to be exposed to amniotic fluid in the uterus. Direct exposure to amniotic fluid causes tissue in the embryos nervous system to degrade and break down. This results in the parts of brain responsible for vision, hearing, movement and coordination to not form properly.
Due to the severity of the defect and the resulting abnormalities in the development of the brain, almost all of the babies diagnosed with Anencephaly die within hours or days after birth.

Is Anencephaly common?

The prevalence of babies diagnosed with Anencephaly at birth is estimated to be about 1 in 10,000, even though occurrences of Anencephaly is the most common neural tube defect and is estimated to be about 1 in 1000. This is due to the fact that in the majority of cases, Anencephalic pregnancies end with a miscarriage.

Anencephaly risk factors

Extensive research has been done to determine the causes or risk factors of Anencephaly, and although there is no definite answer, the research points to the combination of genetic, environmental and behavioral causes.

Research has been done to determine the risk factors that can increase the chances of having a baby with Anencephaly. Some of the noteworthy factors identified by researchers has been low intake of Folic Acid before getting pregnant and in the early stages of pregnancy.

Over a 25% decline in cases of neural tube defects has been observed with the increase of Folic Acid in the food supply.
It’s also worth noting that Hispanic mothers have been found to be at greater risk of being affected by Anencephaly, however the cause has yet to be determined.

What are the causes of Anencephaly?

The exact cause of Anencephaly is currently not known. There is evidence that lack of Folic Acid (Vitamin B9) and being born in a family with a history of Anencephaly increases the chances of an occurrence of NTD’s, but the definite cause is currently unknown.

Is Anencephaly genetic or inherited?

Anencephaly can occur in families with no prior history of this birth defect. A number of cases have been identified to run in families, which suggest that Anencephaly can have genetic cause, however the clear pattern of inheritance has not yet been identified.

Multiple genetic and environmental factors are likely the culprit of Anencephaly. Chances of having an Anencephalic baby, if there were cases of Anencephaly in a patient’s prior pregnancies, is higher than in general pregnancies. Parents who have had a child with Anencephaly are at a higher risk.

Anencephaly Diagnosis

Diagnosis is done during or after pregnancy. Anencephaly can be diagnosed during the early stages of pregnancy via ultrasound. Reliable diagnosis can be made by an ultrasound scan at 11-14 weeks of gestation and with advancements of ultrasound technology, it may be possible to detect NTD’s even earlier. Diagnosis is usually very reliable, since it is very easy to see the malformation in the ultrasound scan. If the ultrasound is made by a professional after the 11th week of gestation, the likelihood of misdiagnosis is minimal.

Life expectancy of Anencephalic babies

An estimated 7% of Anencephalic embryos experience prenatal death, about 20% die during delivery; Life expectancy from a few minutes to a day is observed in about 50% of cases. About 23% live more than a day. In very rare cases the baby can live for weeks or even months and there has been a few cases when a child has lived up to three years. Overall, chances of an Anencephalic baby living past a day are very small.

Treatment of Anencephaly

Due to the severity of the neural tube birth defect, there is no treatment for this condition. Almost none of the Ancephalic babies survive more than a few hours or days.

Survivors of Anencephaly

Surviving Anencephaly for longer than a few hours to days is extremely rare, but on occasion babies with this birth defect are able to live for years. There is the case of Vitori de Cristo who lived for two and a half years, Nickolas Coke who was able to survive for 3 years.

Anencephaly pictures

Below you can see the picture of Anencephalic babies. Some of them are the survivors as you can see. Other images contain anencephaly pictures without hats so these photos are graphic and not suited for everyone.

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Anencephaly Resources

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