Anencephaly, though a medical condition that is not known by many, it is real and there are a number of infants who are diagnosed by this condition.
Amina (not real name) had been carrying this pregnancy for 7 months without any complications, when she went for the monthly antenatal clinic she was diagnosed with Polyhydramnios, a condition that means having too much amniotic fluid in the womb.
The condition implied that the baby she was carrying may have some defects and thus need of ultra sound to detect the problem.
The ultra sound showed the baby had anencephaly, a condition she had no idea what it was and what to expect, the doctors said the baby had no head and will not survive, she had the option to undergo the C section to remove it but she refused even after being told the risks associated with keeping the pregnancy.
Amina felt her baby kicking and could not believe the results so she decided to keep the pregnancy till term, she could not understand how a baby can have ‘no head’ the way the doctors had explained to her.
Of course the baby was born anencephalic through cesarean when it came to term, it was a still birth.
This is just one case of this rare condition that affects mothers who may be unaware of exactly what happens, like in Amina’s case she had never heard of the condition before.
To the family, this was something very strange and they had to do some rituals to cleanse her and her family for what they called “extraordinary” occurrence that may have been caused by witchcraft.
Here is what you should know about this rare condition.
Anencephaly, also known as “open skull,” is a birth defect in which the major parts of the brain, scalp, and skull of the foetus do not form completely as it is developing in the womb.
According to Center for Disease Control, Anencephaly results when a structure called the neural tube, a narrow channel in the fetus that normally closes to form the spinal cord and brain, fails to close during the first few weeks of embryonic development.
The neural tube is a layer of cells that ultimately develops into the brain and spinal cord.a
Anencephaly is classified as a neural tube defect, (NTD) because it caused by abnormalities of the neural tube.
The neural tube’s failure to close properly makes the developing brain and spinal cord to be exposed to the amniotic fluid that surrounds the fetus in the womb causesing the nervous system tissue to degenerate.
An infant born with anencephaly has some or most of the brain called the cerebrum and cerebellum missing.
These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed. Thus, infants born with this condition are unconscious, cannot feel, and are usually blind and deaf.
In many cases, some brain tissue may be exposed because parts of the skull are missing.
According to the Centers for Disease Control, some infants may have a primitive brain stem at birth. They may seem to respond to sound or touch, but their reactions are involuntary and are caused by the action of the brain stem.
Anencephaly is a fatal condition. Because these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.
There are some cases of those who may survive some time longer but the child have to be provided with supportive care.
Causes
According to foetal health organisation, the exact causes of anencephaly are unknown.
The condition may be associated with,
Inadequate folic acid
Adequate folic acid consumption during pregnancy is protective against anencephaly. Exposure to agents that interfere with normal folate metabolism during the critical period of neural tube development (up to 6 weeks after last menstrual period) increases the likelihood of an NTD.
Insulin dependent diabetes mellitus (IDDM),
IDDM confers a significant increase in the risk for NTDs, and it also delays production of alpha-fetoprotein (AFP) during pregnancy.
Presumably, well-controlled IDDM confers a lower risk for NTDs, while gestational diabetes does not appear to be associated with any significant increase in NTD risk.
If a woman takes certain prescription drugs during pregnancy, such as drugs for diabetes, this may increase the risk of having an infant with anencephaly.
Maternal hyperthermia
Hyperthermia is elevated body temperature due to failed thermoregulation that occurs when a body produces or absorbs more heat than it dissipates.
Maternal hyperthermia has been associated with an increased risk for NTD; therefore, pregnant women should avoid hot tubs and other environments that may induce hyperthermia.
Similarly, maternal fever in early gestation also has been reported as a risk factor for anencephaly and other NTDs.
Genetics
Anencephaly may be associated with the unbalanced form of a structural chromosome abnormality in some families.
In these cases, other malformations and birth defects that are not usually found in isolated cases of anencephaly may be present.
In about 90% of cases, the parents of an anencephalic infant do not have a family history of the disorder.
However, if the parents have had a child who was born with anencephaly, they have a greater chance of having another baby with this condition.
Amniotic band disruption sequence
Amniotic band disruption sequence is a condition resulting from rupture of the amniotic membranes.
This can cause disruption of normally formed tissues during development, including the structures of the head and brain.
Anencephaly caused by amniotic band disruption sequence is frequently distinguishable by the presence of remnants of the amniotic membrane.
Recurrence risk for anencephaly caused by this mechanism is lower, and the risk is not modified by the use of folic acid.
Occurrence of anencephaly
According to World Health Organisation, about one in nearly 5,000 babies are born with anencephaly each year.
The exact number is not known because many pregnancies involving neural tube defects end in miscarriage.
In Kenya
According to the Pan African Medical Journal’s Data on the prevalence of neural tube defects in Kenya are limited
Their research on the prevalence of spina bifida and encephalocele in a Kenyan hospital from 2005–2010 revealed that Prevalence of spina bifida and encephalocele is likely underestimated, as only patients seeking care at the hospital are included.
Diagnosis of Anencephaly
Cleveland clinic orgorganization website states that the diagnosis of anencephaly may be made during pregnancy, or at birth by physical examination
During pregnancy
Blood tests – may show high levels of alpha-fetoprotein. Alpha-fetoprotein is a protein produced by the foetus that is excreted into the amniotic fluid. Abnormal levels of alpha-fetoprotein may indicate brain or spinal cord defects.
Amniocentesis – a test performed to determine chromosomal and genetic disorders and certain birth defects.
The test involves inserting a needle through the abdominal and uterine wall into the amniotic sac to retrieve a sample of amniotic fluid.
The fluid can be analyzed to measure the levels of alpha-fetoprotein and acetylcholinerase, higher-than-normal levels are associated with neural tube defects, such as anencephaly.
Ultrasound – a diagnostic imaging technique that uses high-frequency sound waves and a computer to create images of blood vessels, tissues, and organs.
Ultrasounds are used to view internal organs as they function, and to assess blood flow through various vessels.
Abnormalities associated with anencephaly can be seen on the sonogram.
Fetal MRI – This is an imaging test that uses a magnet to generate an image of the developing fetus.
The brain and its various structures can be visualized in more detail than the ultrasound alone.
At birth
After a baby with anencephaly is born, the diagnosis is more apparent since the abnormalities of the skull can be easily seen.
Bones around the front and sides of the head or the bony covering in the back of the head may be missing.
Some brain tissue may be exposed when parts of the skull or scalp are missing.
Treatment
There is no treatment for anencephaly; instead, the child is provided with supportive care.
The infant should be kept warm and any areas of the brain that are exposed must be protected
Prevention
Methods for preventing anencephaly include the following:
Proper nutrition – Eating nutritious foods and taking a vitamin supplement before and during pregnancy may help prevent neural tube birth defects.
Getting enough folic acid (vitamin B9) is very important.
Women of childbearing age should take a daily multivitamin supplement with at least 400 micrograms of folic acid, since most women do not obtain enough folic acid from food alone.
Sources of folic acid include leafy green vegetables, dried beans, oranges, and orange juice.
In the case of folic acid, the synthetic form of the vitamin is more easily absorbed and utilized by the body than the form which occurs naturally in foods.
Folic acid supplements – Pregnant women who have previously given birth to an infant with a neural tube defect may have to take higher amounts of folic acid during pregnancy.
Women should talk to their doctors about the recommended amount of folic acid.
It is suggested that women who have had a previous pregnancy involving a neural tube defect should take 4 mg of folic acid, beginning one to two months before conception through their first trimester of pregnancy, under a doctor’s supervision.