Anencephaly
Anencephaly is a lethal congenital( congenital) anomaly of the fetus, which is caused by a violation of the process of closing the neural tube( embryonic tissue of the nervous system) and manifested by the absence of structures of the anterior brain, bones of the skull, cerebellum. Anencephaly is the most severe among congenital anomalies of the nervous system. Mortality in this pathology is absolute, the life expectancy of children diagnosed with anencephaly is estimated in hours and days, rarely weeks. There are isolated cases when the children born with this severe malformation lived for several years. Unfortunately, the underdevelopment of the brain structure is so great that treatment of anencephaly does not make sense. Given the complete lack of life and recovery prospects, the level of money spent on supporting life in such children is a heavy blow to the psychology of the future mother and family. Modern science is continuously looking for ways to prevent and prevent the onset of congenital pathology of the neural tube.
Fetal anencephaly - what is it?
Anencephaly of the fetus is an anomaly of the development of the central nervous system, which is incompatible with life. It arises as a result of a failure in the process of laying the tissues and structures of the nervous system. The developmental disorder occurs from the 5th to the 25th day of the embryonic period. At this time, a woman may not know that she is pregnant. Therefore, it is very important, provided that this pregnancy is planned, to begin prevention, aimed at preventing congenital malformations, a few months before the alleged conception.
Anencephaly is diagnosed for the first time in the first screening ultrasound performed between 11 and 14 weeks of gestation. The ultrasound picture consists in visualizing the absence of bone tissue of the cranial vault and the absence of brain tissue. If there is a suspicion of congenital malformation, the woman is sent to a prenatal( antenatal) commission. The medical prenatal consultation includes: obstetrician-gynecologists, children's surgeons, neonatologists. There is an ultrasound examination class.
The diagnosis of anencephaly is made when determining the orbits of the fetus of a different mass in structure, which is represented by irregularly formed vascular plexuses of the missing brain. An important aspect in verifying the diagnosis of anencephaly during the intrauterine period is differential diagnosis. Unlike anencephaly, with exencephaly( there is no vault of the skull, but there is a fragmentary brain tissue), a cerebral vasculature is determined on the dopplerography( ultrasound examination of blood flow through the vessels).In microcephaly( reduction of the size of the cranium and brain) and encephalocele( hernial protrusion of the brain tissue), in contrast to anencephaly, the bone tissue of the cranial vault is always determined. There is also the likelihood of difficulty in determining the differences normally formed from a modified primary brain, in the early stages of diagnosis. An inexperienced specialist can take for the bone tissue of the shell of the brain and a layer of skin. These features dictate the need for a thorough study, conducted after the 20th week of pregnancy.
Each pregnant woman at the beginning of the second trimester, in addition to planned ultrasound, undergoes a series of biochemical tests( analysis of serum mother markers).To do this, venous blood is collected, followed by analysis( plasma protein( PAPP-A), alpha-fetoprotein( AFP), human chorionic gonadotropin( hCG)).Based on the results obtained, the individual risk of childbearing with developmental disorders is counted. When determining a high risk, a pregnant woman should receive a genetic consultation with the possibility of invasive diagnostic methods( cordocentesis, amniocentesis).To exclude chromosomal abnormalities, karyotyping is carried out( investigation of qualitative and quantitative chromosomal recruitment).Despite the fact that the congenital defect of anencephaly, associated with 100% lethality, a pregnant woman should completely undergo a genetic examination. This will indirectly establish the cause of the anomaly, exclude or confirm chromosomal breakages, will identify the associated pathology. All this will make it possible to calculate the probability of repeating anencephaly( the risk is about 5%), to develop a preventive action tactic, which is important for subsequent pregnancies.
A pregnant woman who prenatally has been diagnosed with anencephaly and fetal is diagnosed to be aborted for medical reasons at any time. All information on the nature of the pathology, the impossibility of its correction, and the extremely unfavorable prognosis for the life and development of the child is necessarily provided. A woman must sign a voluntary informed consent or refusal to perform a procedure for interrupting a current pathological pregnancy. If a decision is made to terminate the pregnancy, the woman enters the gynecological department for up to 20 weeks, if the term is more than 20 weeks - in obstetric. When deciding whether to continue, the pregnancy is carried out according to the standard plan, depending on the state of the future mother.
The fetus in anencephaly, with the exception of the main pathology, develops normally in most cases, but there may also be associated malformations of other organs.
There is a development of polyhydramnios due to lack or inadequate swallowing activity in the fetus. Fetal movements are often excessive. Intrauterine fetal death occurs in half of cases of anencephaly. Delivery is carried out in an emergency, including by caesarean section, only according to the testimony from the mother. In the absence of indications for surgical delivery, the birth takes place naturally. The term of birth is often belated, because of the pathological hormonal background of the fetus, due to the absence of the pituitary gland and the underdevelopment of the adrenal glands.
Anencephaly: causes of
Fetal neural tube defects are caused by the interaction of environmental and genetic causative factors, such as:
- Deficiency in the body of a future mother of folic acid, zinc and vitamin B 12;
- Chromosomal abnormalities, manifested by a violation of the number and structure of chromosomes( trisomy 18, 13 pairs, triploidy, ring chromosomes, asymmetric translocations);
- Genetic syndromes. Meckel-Gruber syndrome( cerebral hernia, polydactyly - superfluous fingers, microcephaly, anomalies of the genitourinary system) and hydroletal syndrome( hydrocephalus, polydactyly, abnormalities of hands and feet, underdeveloped lungs);
- Nitrates coming with food and water( jerky, nitrate-containing additives, potato with phytophthora, hard water, salicylates);
- Drugs that reduce the level of folic acid in the blood( Methotrexate, Phenytoin, Valproate, Phenobarbital, Aminopterin, etc.);
- Thalidomide( sedative hypnotics);
- Narcotic drugs( Clomifene), lead, glycol ethers( solvents).
Such future mother states as diabetes mellitus, insulin-dependent( high blood sugar level), epilepsy( taking drugs containing valproic acid), the presence of cases of neurological defects in the intrauterine period, among close relatives, may be risk factors for anencephaly development, Young mother's age( up to 20 years).
In the period of formation and bookmarking of the rudiments of the nervous system, under the influence of pathological factors, the upper edge of the anterior part of the neural tube is not enlarged and as a result, most of the forebrain does not develop. The brain is replaced by the bloody mass of the vascular tissue, fibrotic and nerve cells - the "cerebrovascular region".This area is covered with atrophic skin.
Anencephaly: symptoms and signs
Children with anencephaly have a characteristic appearance. The skull of the newborn is underdeveloped, the orbit is empty, the eyes are "bulging".Disproportionate in size limbs. Anomalies of the facial skeleton are often combined with anencephaly, such as "wolf mouth" and "hare lip".There is a total craniorhichisisis( the spinal cord and the brain are not fully fused, there is no skeleton and / or skin), rahishisis( non-growth of the spine, lack of skin and brain exposure).Muscle tone can be either increased or decreased. Sometimes it is possible to determine some of the congenital reflexes inherent in all newborns. Few children with anencephaly are able to suck and swallow independently.
In our country, assistance to a child with anencephaly, is only palliative( supportive).For the newborn, the most comfortable conditions are created, hygienic care and feeding are carried out. Resuscitative care and prescription of medicines for these children are not indicated.
The birth, maintenance of life in anencephaly produces many unresolved ethical problems. From the standpoint of scientific medicine, children with an anencephaly defect require large financial costs( involving and maintaining medical equipment, expensive drugs, personnel of departments), with absolutely no future prospects. From the side of humanity - every living being has a chance of existence. For a mother, a child with a severe blemish is her own child, sometimes only and long-awaited.
A boy with anencephaly: a history of
An anencephalic disorder occurs in 1 case per 1000 live births. About 23% of children are born alive, about 5% of them live longer than a week. There are isolated cases when children with anencephaly lived for several years. One such example is a boy with anencephaly - Jackson Emmett Buell, who is currently 2 years and 4 months old.
A mother who was 17 weeks pregnant after the ultrasound, and then the results of magnetic resonance imaging, was exposed to a shocking diagnosis of fetal anencephaly. Jackson's parents were offered abortion for a period of 23 weeks. Being religious people and ardent opponents of abortion, young people decided to save the child.
Babe was born in August 2014, in the perinatal center, with a body weight of 1800 gr. After spending several weeks in the department of resuscitation and nursing newborns, the mother and child were discharged home. At home, despite his vice, Jackson is surrounded by care and love. Care and ensuring the existence of a child with anencephaly requires large financial investments. Working in the family, for obvious reasons, only a father. Also, help comes from donations collected through various Internet resources and funds.
Little Jackson does not see, does not hear, can not express wishes and emotions, can not sit and walk. Due to the fact that the medulla oblongata is developed the child can suck the nipple and do swallowing movements. Also at the unconscious level, he can realize grasping movements. All other organs function without deviations. The prospect of development in a child with anencephaly there. Every day Jackson's parents wake up with the thought that at any moment he can die. But despite the sad statistics and forecasts of doctors, a baby with anencephaly continues to live.
The diagnosis of anencephaly for any pregnant woman is the strongest blow. To make a decision as an abortion of pathological pregnancy, and about continuation is a difficult step. Unfortunately, the assistance provided to newborns with anencephaly is only palliative. In our country, doctors are limited to modern orders, recommendations, dry statistics, imperfections of resuscitation, psychological support of relatives, so almost everywhere mothers refuse to take part in care, be with a seriously ill child, say goodbye before dying. In foreign clinics, the practice of psychological care is common. Families have the opportunity to be near a dying baby, hold it in their arms, make a commemorative photograph, say good-bye and take a desperate outcome.
Anencephaly - a serious developmental defect, in which the outcome will always be the death of the child. On the one hand, anencephaly is well understood, and on the other hand it requires the solution of a number of difficult problems, such as ways to prevent the occurrence of anomalies, psychological help to pregnant women and mothers, the volume, the nature of care for newborns with anencephaly.
