Facts about Anencephaly
My Daughter Kaitlyn was born july 9th 2008 she had anencephaly an died right after the birth. i want ppl to know about this because doctors give too little informations and options about this illness
What is anencephaly
Anencephaly is a congenital birth defect (from the Latin congenitus, “born with”). It begins to develop right at the start of life in the womb. The word anencephaly means “without an encephalon”, the encephalon being the set of nervous center contained in the brain. This is not an entirely accurate definition: whilst a child with anencephaly is indeed born without a scalp, without a vault of the cranium, without meninges, without either brain hemisphere and without a cerebellum, the child is nevertheless usually born with part of its cerebral trunk, brainstem (Müller 1991).
Almost 75% of babies with anencephaly born at term survive their birth. The life expectancy of those who survive is only a few hours or days (Jaquier 2006).
Approximately 20 percent of affected infants have additional congenital anomalies (Botto 1999).
Manifestation:
Anencephaly belongs to the family of neural tube defects. A neural tube defect (NTD) is a congenital malformation which occurs between the 20th and 28th day after conception (Sadler 1998). The cells of the neural plate make up the foetus’ nervous system. In normal development, they fold back onto themselves in order to create what is called the neural tube, which then becomes the back bone and the spinal cord. After a number of transformations, the superior pole eventually becomes the brain. One can liken this process to a coin whose edges merge at its centre. In the case of an NTD, the neural tube is unable to close completely. Anencephaly occurs when the head end of the neural tube fails to close. Infants with this disorder are born without a scalp or cerebellum. Their meninges, both hemispheres of the brain and the vault of the cranium/skull are also missing, though they usually do have part of the brain stem. The remaining brain tissue is protected only by a thin membrane. The infant can be blind and has no, or very few, reflexes. About ¼ of anencephalic babies die at birth; those who survive have a life expectancy of a few hours or days (Jaquier 2006).
What causes an anencephaly?
It is still not known what causes anencephaly. It is probably triggered by a combination of genetic and environmental factors (Sadler 2005). We nevertheless know that taking Folic Acid can prevent anencephaly. Some medicines (the pill, valproic acid, antimetabolic drugs and others) lower Folic Acid levels, hence taking them increases the risk of giving birth to a child with anencephaly (Sadler, 2005).
Chromosomal abnormalities, single-gene mutations, and teratogenic causes are indentified in fewer than 10 percent of affected infants (Holmes 1976)
Is it caused by anything the parents did?
No, no one is to blame for the baby having anencephaly
Life expectancy:
About 25% of anencephalic children who live to the end of the pregnancy die during delivery; 50% have a life expectancy of between a few minutes and 1 day, 25% live up to 10 days (Jaquier 2006)
At what point can an anencephaly be diagnosed?
An experienced specialist using a high-resolution ultrasound scan can detect an anencephaly as early as the 10th week. In less-than-ideal circumstances, however, an anencephaly cannot be picked up or ruled out by an ultrasound scan until the 16th week of the pregnancy.
AFP levels can be measured via a maternal serum screening test (blood test). If levels are high, there is a risk that the child may be suffering from an NTD. Further tests must then be carried out (ultrasound scan or amniocentesis) to determine whether there really is a problem. Screening must take place between the 15th and the 20th week, the best time being the 16th week.
What happens during the birth of an anencephalic child?
Normally, the baby helps to trigger labour with its pituitary gland and suprarenals (glands of the kidneys). However, these are either missing or their development has been stunted in anencephalic children, hence labour does not always begin spontaneously. As a result, many women ask that labour be induced at the end of their pregnancy. As the vault of the cranium is missing, it is important that the waters do not break for as long as possible during labour so that they can exert the necessary pressure on the cervix for it to dilate. If it is possible to keep the waters intact, the birth of an anencephalic child will happen in almost the same way as if the mother were giving birth to a healthy child, and will take as long. The experience of mothers of anencephalic children has shown that the artificial breaking of waters significantly reduces the chances of the baby being born alive (Jaquier 2006).
Can an anencephalic child sense or do anything?
Doctors will tell you that an anencephalic child can neither see nor hear, nor feel pain, that he or she is a vegetable. However, that does not match up with the experience of many families who have had an anencephalic child. The brain is affected to varying degrees, according to the child; the brain tissue can reach different stages of development. Some children are able to swallow, eat, cry, hear, feel vibrations (loud sounds), react to touch and even to light. But most of all, they respond to our love: you don’t need a complete brain to give and receive love- all you need is a heart!
Is the diagnosis reliable?
Anencephaly is a malformation which is very easy to see on an ultrasound scan. If a qualified doctor has made an ultrasound scan diagnosis after the 16th week, the likelihood of a misdiagnosis is minimal. A positive maternal serum screening test, however, simply shows that there is a higher risk that the baby has Trisomy 21 or 18, or an neural tube defect. Most women who test positive give birth to healthy babies. Additional tests must be carried out to determine whether the baby is suffering from one of those ailments.
Might the mother’s health be jeopardised?
No. Pregnancy is unaffected. In around a quarter of cases, too much amniotic liquid is produced (polyhydramnios). This is due to the fact that the child does not have the reflexes to enable it to swallow the amniotic liquid. If the volume of liquid is excessive, it can cause discomfort for the mother. Labour may be triggered prematurely, or waters may break. An amniocentesis can then be carried out to reduce the amount of liquid; Amniotic liquid is removed with a syringe, thus providing the mother with temporary relief.
What does an anencephalic child look like?
The body of an anencephalic child is entirely unaffected. However, the vault of the cranium is missing from the eye-brows up. Half-way up to the back of the head is usually covered by skin and hair. Vivid dark red neural tissue covered by nothing more than a thin membrane can be seen through an opening in the head. The size of this opening varies considerably from one child to another. The eyeballs can protrude because of a malformation of the eye-sockets, which is why anencephalic children are sometimes pejoratively described as looking like frogs
What is anencephaly
Anencephaly is a congenital birth defect (from the Latin congenitus, “born with”). It begins to develop right at the start of life in the womb. The word anencephaly means “without an encephalon”, the encephalon being the set of nervous center contained in the brain. This is not an entirely accurate definition: whilst a child with anencephaly is indeed born without a scalp, without a vault of the cranium, without meninges, without either brain hemisphere and without a cerebellum, the child is nevertheless usually born with part of its cerebral trunk, brainstem (Müller 1991).
Almost 75% of babies with anencephaly born at term survive their birth. The life expectancy of those who survive is only a few hours or days (Jaquier 2006).
Approximately 20 percent of affected infants have additional congenital anomalies (Botto 1999).
Manifestation:
Anencephaly belongs to the family of neural tube defects. A neural tube defect (NTD) is a congenital malformation which occurs between the 20th and 28th day after conception (Sadler 1998). The cells of the neural plate make up the foetus’ nervous system. In normal development, they fold back onto themselves in order to create what is called the neural tube, which then becomes the back bone and the spinal cord. After a number of transformations, the superior pole eventually becomes the brain. One can liken this process to a coin whose edges merge at its centre. In the case of an NTD, the neural tube is unable to close completely. Anencephaly occurs when the head end of the neural tube fails to close. Infants with this disorder are born without a scalp or cerebellum. Their meninges, both hemispheres of the brain and the vault of the cranium/skull are also missing, though they usually do have part of the brain stem. The remaining brain tissue is protected only by a thin membrane. The infant can be blind and has no, or very few, reflexes. About ¼ of anencephalic babies die at birth; those who survive have a life expectancy of a few hours or days (Jaquier 2006).
What causes an anencephaly?
It is still not known what causes anencephaly. It is probably triggered by a combination of genetic and environmental factors (Sadler 2005). We nevertheless know that taking Folic Acid can prevent anencephaly. Some medicines (the pill, valproic acid, antimetabolic drugs and others) lower Folic Acid levels, hence taking them increases the risk of giving birth to a child with anencephaly (Sadler, 2005).
Chromosomal abnormalities, single-gene mutations, and teratogenic causes are indentified in fewer than 10 percent of affected infants (Holmes 1976)
Is it caused by anything the parents did?
No, no one is to blame for the baby having anencephaly
Life expectancy:
About 25% of anencephalic children who live to the end of the pregnancy die during delivery; 50% have a life expectancy of between a few minutes and 1 day, 25% live up to 10 days (Jaquier 2006)
At what point can an anencephaly be diagnosed?
An experienced specialist using a high-resolution ultrasound scan can detect an anencephaly as early as the 10th week. In less-than-ideal circumstances, however, an anencephaly cannot be picked up or ruled out by an ultrasound scan until the 16th week of the pregnancy.
AFP levels can be measured via a maternal serum screening test (blood test). If levels are high, there is a risk that the child may be suffering from an NTD. Further tests must then be carried out (ultrasound scan or amniocentesis) to determine whether there really is a problem. Screening must take place between the 15th and the 20th week, the best time being the 16th week.
What happens during the birth of an anencephalic child?
Normally, the baby helps to trigger labour with its pituitary gland and suprarenals (glands of the kidneys). However, these are either missing or their development has been stunted in anencephalic children, hence labour does not always begin spontaneously. As a result, many women ask that labour be induced at the end of their pregnancy. As the vault of the cranium is missing, it is important that the waters do not break for as long as possible during labour so that they can exert the necessary pressure on the cervix for it to dilate. If it is possible to keep the waters intact, the birth of an anencephalic child will happen in almost the same way as if the mother were giving birth to a healthy child, and will take as long. The experience of mothers of anencephalic children has shown that the artificial breaking of waters significantly reduces the chances of the baby being born alive (Jaquier 2006).
Can an anencephalic child sense or do anything?
Doctors will tell you that an anencephalic child can neither see nor hear, nor feel pain, that he or she is a vegetable. However, that does not match up with the experience of many families who have had an anencephalic child. The brain is affected to varying degrees, according to the child; the brain tissue can reach different stages of development. Some children are able to swallow, eat, cry, hear, feel vibrations (loud sounds), react to touch and even to light. But most of all, they respond to our love: you don’t need a complete brain to give and receive love- all you need is a heart!
Is the diagnosis reliable?
Anencephaly is a malformation which is very easy to see on an ultrasound scan. If a qualified doctor has made an ultrasound scan diagnosis after the 16th week, the likelihood of a misdiagnosis is minimal. A positive maternal serum screening test, however, simply shows that there is a higher risk that the baby has Trisomy 21 or 18, or an neural tube defect. Most women who test positive give birth to healthy babies. Additional tests must be carried out to determine whether the baby is suffering from one of those ailments.
Might the mother’s health be jeopardised?
No. Pregnancy is unaffected. In around a quarter of cases, too much amniotic liquid is produced (polyhydramnios). This is due to the fact that the child does not have the reflexes to enable it to swallow the amniotic liquid. If the volume of liquid is excessive, it can cause discomfort for the mother. Labour may be triggered prematurely, or waters may break. An amniocentesis can then be carried out to reduce the amount of liquid; Amniotic liquid is removed with a syringe, thus providing the mother with temporary relief.
What does an anencephalic child look like?
The body of an anencephalic child is entirely unaffected. However, the vault of the cranium is missing from the eye-brows up. Half-way up to the back of the head is usually covered by skin and hair. Vivid dark red neural tissue covered by nothing more than a thin membrane can be seen through an opening in the head. The size of this opening varies considerably from one child to another. The eyeballs can protrude because of a malformation of the eye-sockets, which is why anencephalic children are sometimes pejoratively described as looking like frogs
