The term anencephaly refers to a severe malformation of the embryo that occurs early in pregnancy. Due to an unclosed 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?
A reliable diagnosis of suspected anencephaly is made using a special 3D ultrasound scan. Anencephaly or anenkephaly (the term comes from the Greek term “enkephalos,” which refers to the brain, so anencephaly means “without a brain”) was first published scientifically by Eduard Gamper in 1926. Anencephaly develops before the 26th day of pregnancy and is considered the most severe form of malformation within the neural tube defects. (The neural tube refers to the first stage of development of the central nervous system in vertebrates and thus also in humans). The generic term neural tube defect (NRD) subsumes 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 unoccluded skullcap, parts of the skullcap, scalp, meninges, and brain that are missing to varying degrees, with the brain stem being developed in only about 25 percent of cases. Similarly, the endocrine gland called the pituitary gland, which is located in the base of the skull, is underdeveloped in anencephaly.
Causes
In most cases, the causes of anencephaly are a deficiency of folic acid (synthetic form of the B vitamin) during pregnancy. However, exogenous factors such as alcohol, medication, or drug abuse by expectant mothers, as well as chemotherapy used to treat cancer in pregnant women, are also considered causes of anencephaly, as are contact with mercury, the effects of ionizing radiation (X-rays, CT scans), or various infectious diseases. But also a rarely occurring spontaneous maldevelopment of the unborn child can lead to anencephaly. All of these risk factors are only present in expectant mothers if they are already present at the beginning of the fifth week of pregnancy at the latest. From today’s medical point of view, genetic factors do not play any role 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 does not exceed that of the (female) population average.
Symptoms, complaints, and signs
In most cases, anencephaly is associated with very severe symptoms. However, the discomfort only affects the child, so the mother’s health is not at risk in anencephaly. The child suffers from very shallow eye sockets and very 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 limited by the disease, so that most children die before birth or shortly after birth. They are suffering non-survival. In some cases, the expectant mother may also suffer from premature labor associated with severe pain. Due to a stillbirth or the early death of the child, many women and their partners also suffer from psychological discomfort or severe depression. Thus, they are also in need of psychological treatment. Furthermore, anencephaly can also lead to rupture of the amniotic sac, which also promotes stillbirth. Since the child cannot take nourishment, it is fed through an artificial tube. Furthermore, a pregnancy can be terminated if anencephaly is detected. Psychological complaints also frequently occur in this case.
Diagnosis and course
To detect anencephaly, the blood of the expectant mother is examined as part of “prenatal diagnostics” (prenatal diagnosis). If the concentration of “alpha-1 fetoprotein” is elevated, this can be used to calculate the probability of the disease. A reliable diagnosis of suspected anencephaly is made by means of a special 3-D ultrasound examination.Due to the missing swallowing reflex of the embryo suffering from anencephaly, too much amniotic fluid sometimes accumulates in the womb, which can lead to premature labor and thus to an unwanted rupture of the amniotic sac. To prevent this, the amniotic fluid must be drained with the help of a so-called puncture. The birth itself usually takes place vaginally and the timing also corresponds to normal birth processes, although labor may be induced artificially because the underdeveloped pituitary gland of the embryo cannot give a signal to induce natural labor. Artificially induced rupture of the amniotic sac dramatically increases the likelihood of stillbirth of the embryo suffering from anencephaly.
When should you see a doctor?
If anencephaly is detected on ultrasound examination during pregnancy, intensive medical measures must be taken immediately after birth. Because of the severity of the defect, about 75 percent of parents choose to terminate the pregnancy prematurely. In the event of an abortion, the attending physician will initiate the necessary measures and refer the parents to an appropriate specialized clinic. Whether therapeutic measures such as trauma therapy or participation in a support group are necessary must be decided on a case-by-case basis. Parents who decide to give birth must prepare themselves accordingly for the expected death of the child. In addition, the responsible physician will prepare the intensive medical care (nutrition by means of tubes) and inform the parents about the procedure. The actual birth process corresponds to the normal procedures. However, in consultation with the hospital, individual preparatory measures can also be taken here. In general, parents expecting a child with anencephaly should discuss all details with a trusted physician.
Treatment and therapy
In principle, treatment of anencephaly is not possible, so the fetus survives only a few hours after birth because the lack of a swallowing reflex prevents it from taking in vital fluids, leading to dehydration as a direct cause of death. However, the life of a newborn suffering from anencephaly can be prolonged by an average of about two to four days by intensive medical care (feeding by tubes). The resulting question of premature abortion, which is difficult to answer from an ethical point of view, is rejected by about 25 percent of those affected, because there is no danger to the expectant mothers themselves and they would like to give their child suffering from anencephaly at least a short life.
Prospect and prognosis
Unfortunately, in most cases, anencephaly leads to the death of the patient immediately a few hours after birth. In this case, the affected person suffers from an incomplete brain and also 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, especially the parents and the relatives also suffer from severe depression and other psychological complaints due to the anencephaly and need treatment in this case. Likewise, anencephaly not infrequently leads to premature labor and thus usually to severe pain during childbirth. The birth may also have to be induced artificially due to anencephaly. This may also result in direct stillbirth of the patient. Anencephaly can be diagnosed relatively early, so that it is also possible to terminate the pregnancy. However, even in this case, it is not uncommon for psychological symptoms to occur, which eventually need to be treated. A direct and causal treatment of anencephaly is not possible. Affected individuals die after only a few hours after birth.
Prevention
The risk of anencephaly (since the introduction of folic acid administration) in Central Europe is about 1 in 1000, with four times fewer cases among the colored population. Avoidance of alcohol, drugs, and medications, as well as avoidance of the risk factors already mentioned, such as infectious diseases or X-rays, during (early) pregnancy minimizes the likelihood of an embryo developing anencephaly.
Follow-up
Comprehensive follow-up is necessary for anencephaly.Since the affected children die after a few hours, the parents suffer a great deal emotionally. For this reason, aftercare primarily involves intensive therapeutic reappraisal of the trauma. The child’s relatives should contact a suitable trauma therapist and, if necessary, also seek out a self-help group. There, they can exchange ideas with others affected by the trauma. 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 perform an ultrasound examination and draw blood. In addition, he will have a conversation with the affected woman to clarify the mental condition once again. After the birth of a sick child, the normal routine examinations with the gynecologist must be resumed. The mother should also consult a specialist in genetic diseases to clarify whether the child’s anencephaly is due to a genetic cause. Based on the diagnosis, further action can be planned, especially if a new pregnancy is planned. The condition itself does not require extensive follow-up, although an autopsy of the child may be performed.
What you can do yourself
Infants suffering from anencephaly usually survive only a few hours to days after birth. Parents of affected infants are usually informed of the child’s condition early in pregnancy, and thus know well before the due date that the offspring will die. The parents must decide whether to carry the child to term or terminate the pregnancy. Depending on which decision is made, the doctor can take further steps. Parents who decide not to carry the child to term should seek psychological counseling and prepare for the impending termination of the pregnancy by reading and talking to specialists. Parents who want to keep the child often spend the time between birth and the child’s death in the hospital – again, appropriate arrangements must be made. The doctor will also recommend therapeutic counseling to the parents. Talking to a professional can help the parents cope with their grief. Going to a support group also helps overcome the loss of the child and return to a positive life in the long term.