The term anencephaly describes a severe malformation of the embryo that occurs early in pregnancy . Due to a non-closed top of the skull and missing parts of the brain, the life expectancy of newborns suffering from anencephaly is only a few hours or days.
What is anencephaly?
If anencephaly is suspected, a reliable diagnosis is made using a special 3D ultrasound examination.
Anencephaly or anenkephaly (the name comes from the Greek term “enkephalos”, which describes the brain, anencephaly means “without a brain”) was first published scientifically in 1926 by Eduard Gamper.
Anencephaly develops before the 26th day of pregnancy and is considered to be the most severe form of malformation within neural tube defects. (The neural tube denotes the first stage of development of the central nervous system in vertebrates and thus also in humans.) The generic term neural tube defect (NRD) summarizes those malformations of embryonic development that prevent complete closure of the neural tube.
The effects of this severe malformation in the case of anencephaly include, in addition to the unclosed skullcap, the varying degrees of missing parts of the roof of the skull, the scalp, the meninges and the brain, whereby the brain stem is only developed in about 25 percent of cases. The pituitary gland (pituitary gland) located in the base of the skull is also underdeveloped in anencephaly.
The causes of anencephaly are in most cases a deficiency in folic acid (synthetic form of the B vitamin) during pregnancy. However, exogenous factors such as alcohol , drug or drug abuse by the expectant mothers, as well as the chemotherapy used to fight cancer in pregnant women, as well as contact with mercury, the effects of ionizing radiation ( X-rays , CT ) or various infectious diseases , are considered to be the causes of a Anencephaly.
But even a rarely occurring, spontaneous malformation of the unborn child can lead to anencephaly. All of these risk factors only come into play in expectant mothers if they are already present by the beginning of the fifth week of pregnancy at the latest.
From today’s medical point of view, genetic factors play no role whatsoever in the development of anencephaly, which means that the risk of pregnant women who have already given birth to a child with an anencephalic malformation is not higher than that of the (female) population average.
Symptoms, ailments & signs
In most cases, anencephaly is associated with very serious symptoms. However, the symptoms only affect the child, so that the mother’s health is not endangered by anencephaly. The child suffers from very shallow eye sockets and strongly protruding eyes.
The brain is also very underdeveloped, resulting in psychological, motor and neurological damage and limitations. The child’s ability to survive is also significantly restricted by the disease, with the result that most children die before or shortly after birth. You are suffering from being unable to survive.
In some cases, the expectant mother may also suffer from premature labor, which is associated with severe pain. As a result of stillbirth or the early death of the child, many women and their partners also suffer from psychological complaints or from severe depression . You are therefore also dependent on psychological treatment.
Furthermore, anencephaly can also lead to rupture of the amniotic sac, which also promotes stillbirth. Since the child cannot ingest food, it is fed through an artificial tube. Pregnancy can also be terminated if anencephaly is detected. Psychological complaints often occur here too.
Diagnosis & course
To determine anencephaly, the blood of the expectant mother is examined as part of the “prenatal diagnosis” (prenatal diagnosis). If the concentration of the “alpha-1-fetoprotein” is increased, the probability of an illness can be calculated from this. If anencephaly is suspected, a reliable diagnosis is made using a special 3-D ultrasound examination.
Due to the lack of swallowing reflex in the embryo suffering from anencephaly, too much amniotic fluid can accumulate in the womb, which can lead to premature labor and thus to unwanted rupture of the amniotic sac . To prevent this, the amniotic fluid must be drained using a so-called puncture.
The birth itself usually takes place vaginally and the time course corresponds to the normal birth processes, although the contractions may be induced artificially, as the underdeveloped pituitary gland of the embryo cannot give a signal to trigger natural labor. An artificially induced rupture of the amniotic sac dramatically increases the likelihood of stillbirth in the embryo suffering from anencephaly.
When should you go to the doctor?
If anencephaly is detected during the ultrasound examination during pregnancy, intensive care measures must be taken immediately after the birth. Due to the severity of the defect, around 75 percent of parents decide to terminate the pregnancy prematurely. In the event of an abortion, the attending physician will take the necessary measures and refer the parents to an appropriate specialist clinic.
Whether therapeutic measures such as trauma therapy or participation in a self-help group are necessary must be decided on a case-by-case basis. Parents who choose to give birth must prepare accordingly for the expected death of the child. In addition, the doctor in charge will prepare the intensive medical care (feeding using tubes) and inform the parents about the process.
The actual birth process corresponds to the normal processes. In consultation with the hospital, however, individual preparatory measures can also be taken here. In general, parents expecting a child with anencephaly should discuss all the details with a trusted doctor.
Treatment & Therapy
Treatment of anencephaly is not possible in principle, so that the fetus only survives a few hours after birth, because the lack of swallowing reflex prevents it from absorbing fluids and dehydration as a direct cause of death.
However, the life of a newborn with anencephaly can be extended by an average of two to four days through intensive medical care (feeding by means of tubes).
The question of premature termination of pregnancy, which arises from this and is difficult to answer from an ethical point of view, is rejected by around 25 percent of those affected, as there is no risk to the expectant mothers themselves and they want to give their child with anencephaly at least a short life.
Outlook & forecast
Unfortunately, in most cases, anencephaly results in death of the patient a few hours after birth. Those affected suffer from an incomplete brain and an incompletely developed skull. This significantly reduces the life expectancy of the newborn. The eyes are also underdeveloped and usually protrude from the eye socket.
In most cases, the parents and relatives in particular also suffer from severe depression and other psychological complaints due to anencephaly and require treatment. Likewise, anencephaly often leads to premature labor and therefore usually also to severe pain during childbirth. The birth may also have to be induced artificially because of the anencephaly. A stillbirth of the patient can also occur directly.
Anencephaly can be diagnosed relatively early, so that pregnancy can also be terminated . Even here, however, it is not uncommon for psychological complaints that ultimately have to be treated. A direct and causal treatment of anencephaly is not possible. Those affected die a few hours after giving birth.
The risk of anencephaly (since folic acid was introduced) in Central Europe is around 1: 1000, with four times fewer cases among the black population. Avoiding alcohol, drugs and medication as well as avoiding the risk factors already mentioned such as infectious diseases or X-rays during (early) pregnancy reduce the likelihood of an embryo suffering from anencephaly to a minimum.
Comprehensive follow-up care is necessary for anencephaly. Since the affected children die after a few hours, the parents are under great emotional distress. Therefore, aftercare primarily includes intensive therapeutic processing of the trauma.
The relatives of the child should contact a suitable trauma therapist and, if necessary, choose a self-help group. There they can exchange ideas with other affected persons. The physical aftercare is limited to a one-time examination after the birth. The gynecologist will examine the birth canal to rule out injuries and other complications.
He may also do an ultrasound scan and draw blood. In addition, he will have a conversation with the woman concerned in order to clarify the mental state again. After the birth of a sick child, the normal routine examinations at the gynecologist must be resumed.
The mother should also see a specialist in genetic disorders to determine whether the child’s anencephaly has a genetic cause. Based on the diagnosis, the next steps can be planned, especially if a new pregnancy is planned. The disease itself does not require extensive follow-up care, although an autopsy of the child may be carried out under certain circumstances.
You can do that yourself
Infants with anencephaly usually only survive a few hours to days after birth. Parents of affected children are usually informed about the child’s suffering in early pregnancy and thus know well in advance of the due date that the offspring will die. The parents must decide whether to carry the child to term or to terminate the pregnancy. Depending on which decision has been made, the doctor can initiate the further steps.
Parents who decide against the child should seek psychological advice and prepare for the impending abortion with the help of specialist reading and discussions with specialist doctors. Parents who want to keep the child often spend the time between the birth and death of the child in the hospital – here, too, appropriate precautions must be taken.
The doctor will also recommend therapeutic advice to the parents. Talking to a professional can help parents cope with grief. Going to a self-help group also helps to overcome the loss of the child and to lead a positive life again in the long term.