Edwards syndrome: treatment, causes, symptoms, signs

Causes

If there is no family history of this disease, and the parents are in absolute health, there is still a risk of having a child with this disease. Science knows that a human cell contains 46 chromosomes. The egg and sperm contain twenty-three chromosomes. When they combine, the number of chromosomes also combines. The causes of Edwards syndrome are not well understood to date.

Researchers say that due to gene mutations, an extra one is formed in the 18th pair of chromosomes. In 2 cases of this disease out of 100, the eighteenth chromosome is lengthened, while the 47th chromosome is not formed, but a translocation occurs.

In three out of a hundred cases of the disease, doctors talk about mosaic trisomy. This means that the extra chromosome is present only in some cells of the fetal body, and not in absolutely all. But in terms of symptoms, the three described variants of the disease converge. Only in the first case can the course be severe and there is a greater chance of death.

How common is this pathology?

Children with Edwards syndrome die during fetal development in approximately 60% of cases. Despite this, among genetic diseases this syndrome in surviving infants is quite common, second only to Down syndrome in frequency of occurrence. The prevalence of Edwards syndrome is 1 case in 3–8 thousand children.

It is believed that this disease occurs 3 times more often in girls, and the risk of Edwards syndrome increases significantly if the pregnant woman is 30 years or older.

The mortality rate for Edwards syndrome in the first year of life is about 90%, and the average life expectancy for severe cases of the disease in boys is 2–3 months, and in girls 10 months, and only a few survive to adulthood. Most often, children with Edwards syndrome die from suffocation, pneumonia, cardiovascular failure or intestinal obstruction - complications caused by congenital malformations.

Frequency

In 60 cases of mutations out of 100, children with the syndrome in question die inside the mother’s abdomen, because the defects are incompatible with life. But the survival rate of children with Edwards syndrome is quite high (slightly lower than that of fetuses with trisomy 21). For every 3-8 thousand babies, one is born with the diagnosis in question.

Doctors say the disease is three times more common among female babies than among boys. There is a high risk of giving birth to a child with these abnormalities in women giving birth who are over 30 years old. During the first 12 months of life, about 90 out of 100 children with this diagnosis die. Boys live on average from 2 to 3 months, and girls about 10 months. The chances that a child with Edwards syndrome will survive into adulthood are slim. Complications of developmental defects become causes of death in children:

• intestinal obstruction
• cardiovascular failure
• pneumonia
• suffocation

General information

Edwards syndrome (also called trisomy 18 syndrome) is a chromosomal disease characterized by multiple malformations and trisomy 18 chromosomes. This disease was first described by John Edwards in 1960. This disease is rarely diagnosed - as statistics show, in the world it occurs with a frequency of 1:5000. It has been noted that children with this pathology are more often born to mothers of mature age. Thus, the probability of giving birth to a baby with this pathology for a woman over 45 years old is 0.7%. The risk increases if the expectant mother has diabetes .
Moreover, girls with this pathology are born three times more often than boys. Edwards disease is a very severe pathology, in which survival after a year is 5–10%. How this disease is diagnosed and what causes its development will be discussed in this article.

Symptoms

Manifestations of the disease are divided into several groups. The first includes those that characterize the appearance of a sick person:

• body weight at birth is approximately 2 kg 100 grams or 2 kg 200 grams
• abnormally developed lower or upper jaw
• the head is small in relation to the whole body
• cleft lip and/or hard palate
• malocclusion and irregular face shape of the child
• rocking foot
• clubfoot from birth
• webbed toes or complete fusion of the toes
• ears set low
• the fingers of the hand are clenched, their placement in the fist is uneven
• the mouth gap is smaller than it should be

The second group of symptoms of the disease concerns the neuropsychic sphere, motor skills and organ function of the sick child:

• umbilical or inguinal hernia
• congenital heart defects, including patent ductus arteriosus, ventricular septal defect, etc.
• smoothing or atrophy of cerebral convolutions
• underdevelopment of the cerebellum, corpus callosum
• mental retardation
• delayed neuropsychic development of a child
• violation of intestinal location
• Meckel's diverticulum
• atresia of the esophagus or anus
• disturbance of the swallowing and sucking reflex
• GERD
• duplication of ureters
• horseshoe-shaped or segmented bud
• underdevelopment of the ovaries in girls
• hypertrophied clitoris in female infants
• hypospadias in male infants
• cryptorchidism in sick boys
• amyotrophy
• scoliosis
• strabismus

Treatment

Since children with Edwards syndrome rarely survive to one year, treatment is first aimed at correcting those developmental defects that are life-threatening:

• restoration of food passage for intestinal or anal atresia
• feeding through a tube in the absence of swallowing and sucking reflexes
• antibacterial and anti-inflammatory therapy for pneumonia

With a relatively favorable course of the disease, correction of some anomalies and malformations occurs: surgical treatment of the “cleft palate”, heart defects, inguinal or umbilical hernia, as well as symptomatic drug treatment (prescription of laxatives for constipation, “defoamers” for flatulence, etc.) .

Children with Edwards syndrome are prone to diseases such as:

• otitis media
• kidney cancer (Wilms tumor)
• pneumonia
• conjunctivitis
• pulmonary hypertension
• apnea
• high blood pressure
• frontal sinuses, sinusitis
• genitourinary system infections

Therefore, treatment of patients with Edwards syndrome includes timely diagnosis and treatment of these diseases.

Diagnostics

You can most often find out about genetic pathologies while a woman is still carrying a child. This also applies to trisomies. Pregnancy screening is carried out from the 11th to the 13th week. The woman takes blood tests (biochemistry) and an ultrasound is performed. Diagnosis also involves determining the karotype of the embryo if the woman is at risk (complicated family history, infectious diseases in the first trimester, etc.).

During the first semester screening, the amount of human chorionic hormone and plasma protein A associated with pregnancy is determined in the blood. Then they take into account the age of the pregnant woman to find out what her risk is of having a child with trisomy 18.

If a woman is classified as a risk group, a fetal biopsy is performed a little later in order to know for sure whether the child will be born with abnormalities or healthy. From 8 to 12 weeks, chorionic villus sampling is taken. From the 14th to the 18th week, the waters surrounding the fetus are studied. After the 20th week, cordocentesis can be done. The procedure involves taking blood from the umbilical cord (ultrasound is used in the process to control the collection of material).

The number of chromosomes is detected in the material. The CP-PCR method helps with this. If the pregnant woman fails genetic screening for late gestation, a preliminary diagnosis of the genetic mutation is made using ultrasound. In the second and third trimester, there are signs that indicate that the child is likely to be born with trisomy:

• cleft lip
• low-set fetal ears
• microcephaly
• cleft palate
• defects of the musculoskeletal system
• malformations of the genitourinary system
• heart and vascular defects

Symptoms of the disease

The syndrome manifests itself in all children in completely different ways: some experience only the main symptoms of the disease, while others experience the absolute majority of them.

The degree of manifestation of existing symptoms also varies among patients.

So, externally, Edwards syndrome manifests itself as follows:

• the child has a small head compared to the body;
• narrow eyes (see photo above);
• poorly developed lower jaw;
• distortion of facial features and shape;
• elongated ears. Often some components of the ear (lobe, ear canal) are also missing;
• wide and shortened chest;
• very small upper lip, small mouth;
• a greatly expanded bridge of the nose, sometimes “pressed” into the skull;
• irregularly shaped feet;
• high palate with a slit (cleft palate);
• low forehead, the back of the head protrudes strongly;
• strabismus.

In addition to visual signs, there are also internal ones, which are much more serious in nature:

• heart disease;
• presence of hernias;
• lack of reflexes typical of small children;
• underdevelopment of the cerebellum;
• double ureters;
• renal failure;
• low body weight, about 2 kg at birth;
• dementia develops with age;
• muscle dystrophy;
• oncology of various organs.

Diagnosis after birth

Edwards syndrome in newborns is detected by the following signs:

• low birth weight
• microcephaly
• cleft palate or cleft lip
• transverse palmar groove
• undeveloped distal flexion fold on the fingers
• distal location of the axial triradius and increase in ridge count on the palm
• arches on the fingertips

But these signs do not yet indicate that the child has Edwards syndrome. The diagnosis needs confirmation. To do this, the above-mentioned CP-polyplasma chain reaction method is used to determine caropine in a newborn. Ultrasound shows choroid plexus cysts in an infant.

Prognosis and prevention

The prognosis for Edwards syndrome is extremely unfavorable. Sick children die in the first year of life. Only a few survive to young and mature years. At the same time, they have significant mental disabilities and require constant care. The surviving children suffer from mental retardation and various diseases associated with structural anomalies. Only a mild form of mosaic Edwards syndrome can be corrected. Sick children begin to communicate with a limited circle of people and acquire basic self-care skills. With the right care, your baby can learn to lift his head and eat on his own.

To prevent the birth of a sick child, it is necessary to promptly identify chromosomal pathologies in the fetus. To achieve this, all pregnant women should not neglect antenatal screening.

Currently, there are special centers in our country that care for children with congenital diseases and develop their intelligence. If a sick child lives in such a center for more than a year under the supervision of doctors, he begins to smile, respond to movement, independently maintain his body position and eat.

Edwards syndrome is a pathology that is virtually impossible to predict, treat, or correct. This diagnosis is an indication for abortion.

Diagnosis by ultrasound before birth

The following indirect signs of the disease are detected, starting from the twelfth week of gestation:

• 1 rather than 2 umbilical arteries
• The nasal bones are not visualized on ultrasound
• abdominal hernia
• low heart rate
• choroid plexus cysts

Cysts are not dangerous for the baby; they are eliminated by the 26th week of gestation. But such cysts indicate that the child has a genetic developmental abnormality. This may be the syndrome discussed in this article. Cysts are found in a third of patients with this diagnosis. If the doctor sees cysts on an ultrasound, then the next stage of prenatal diagnosis is a consultation with a geneticist.

Edwards syndrome on ultrasound - choroid plexus cysts

In the early stages, Edwards syndrome is extremely difficult to suspect on ultrasound, however, at 12 weeks of pregnancy, symptoms of an indirect nature characteristic of it are already revealed:

• Signs of fetal growth restriction
• Bradycardia (decreased fetal heart rate)
• Omphalocele (presence of abdominal hernia)
• Lack of visualization of the nasal bones
• The umbilical cord has one, not 2, arteries

Also, ultrasound can detect choroid plexus cysts, which are cavities with fluid contained in them. By themselves, they do not pose a threat to health and disappear by 26 weeks of pregnancy. However, such cysts very often accompany various genetic diseases, for example, Edwards syndrome (in this case, cysts are found in 1/3 of children suffering from this pathology), therefore, if such cysts are detected, the doctor will refer the pregnant woman for examination to a genetic consultation.

Treatment of Edwards syndrome

The goal of therapy: to correct developmental defects that are life-threatening to the child. But it is worth remembering that the child may have serious disabilities and is unlikely to survive beyond 12 months of age. If pneumonia is detected, the baby is given anti-inflammatory drugs and antibiotics. If it is discovered that the baby does not have a sucking and swallowing reflex, then he is fed using a tube. If anal or intestinal atresia is detected in a patient, the passage of food must be restored.

If the doctor sees that the course of Edwards syndrome is favorable, then surgery must be performed to eliminate the umbilical hernia, inguinal hernia, heart defects, and cleft palate. Some symptoms can be relieved by taking medications. For example, if a baby is constipated, he or she will need certain laxative medications. When gases accumulate in the intestines, drugs from a number of “defoamers” are prescribed.

Children who have been diagnosed with the trisomy in question are at risk for the following diseases:

• genitourinary infections
• sinusitis and sinusitis
• arterial hypertension
• apnea
• pulmonary hypertension
• pneumonia
• kidney cancer
• otitis media

It is important to detect these diseases in a baby in time and treat them correctly. The prognosis in most cases of the disease is unfavorable. As already noted, a child has an extremely low chance of surviving to puberty. If the child survives, he will need constant care and supervision because his brain will not be sufficiently developed. Some patients can eat without the help of others, smile and acquire minimal skills.

Forecast

Edwards syndrome, like other genetic diseases (trisomy 16, trisomy X), is an incurable disease.

Like any other genetic disease, Edwards syndrome has no cure. However, symptomatic treatment is possible to make life easier for this child, including surgical treatment of defects accompanying the syndrome.

Children with the full form of the syndrome rarely live beyond the age of one year. According to statistics, about 60% of children with this disease die before the age of 3 months. Only 5-10% of such patients survive to one year of age, and only about 1% of children survive to 10 years of age. On average, boys live 2-3 months, girls - 10 months. Patients remain oligophrenic forever.

But if these children are given good care and treatment, in some cases they can live longer and have a higher quality of life. They can learn to recognize loved ones, eat on their own, and smile.

Children with the mosaic form of the disease have a higher chance of living a more fulfilling life.