Edwards syndrome: photo, causes, diagnosis, treatment

2024 Author: Priscilla Miln | [email protected]. Last modified: 2023-12-16 00:21

Today we will talk about a fairly rare childhood disease, accompanied by a large number of anomalies and developmental disorders. Let's talk about Edwards syndrome. We will analyze its causes, forms, frequency of manifestation, diagnostic methods and other important issues.

What is this?

Edward's syndrome is a disease caused by chromosomal abnormalities that causes a whole list of disorders and abnormalities in the development of the child. Its cause is trisomy of the 18th chromosome, i.e., the presence of its extra copy. This fact leads to complications of a genetic nature.

The risk of having a baby with Edwards syndrome is 1 in 7000. Unfortunately, most babies with this disorder die in the first weeks of life. Only about 10% live one year. The disease leads to profound mental retardation, congenital lesions of internal and external organs. The most common of them are a defect in the brain, heart, kidneys, small head and jaw, cleft lip or palate, clubfoot.

First formed and describedthe symptoms of the disease were in 1960 by D. Edwards. The doctor was able to establish a relationship between the manifestation of several signs, found more than 130 defects that accompany the disease. Although the symptoms of Edwards syndrome appear very brightly, modern methods of therapy against them, unfortunately, are powerless.

Cause of disease

If Edwards syndrome (photos of sick children for ethical reasons will not be posted) was diagnosed during pregnancy, then most often the latter ends in miscarriage or stillbirth. Alas, the manifestation of the disease in the fetus cannot be prevented today.

Also, in modern times, the clear causes of this genetic disease have not been clarified, which is why it is impossible to form preventive measures against its development in future children. However, experts have identified risk factors:

• Unfavorable environmental conditions.
• Exposure to radiation, toxic, chemicals on parents.
• Addiction to alcohol and tobacco.
• Heredity.
• Taking certain medications.
• Incest, consanguinity of parents.
• The age of the expectant mother. If a woman is over 35 years old, then this is considered the cause of Edwards syndrome in a child, as well as other chromosomal diseases.

Forms of the syndrome

The type of such an anomaly is primarily affected by the stage of development of the embryo, at which the syndrome overtakes the embryo. There are three types in total:

• Full. The most severe type, it accounts for 80% of cases. The tripled chromosome appears at the moment when the fetuswas only one cell. It follows that the abnormal chromosome set will be transmitted during division to all other cells, observed in each of them.
• Mosaic. The name is given due to the fact that he althy and mutated cells are mixed like a mosaic. 10% of those affected by the symptom of Edwards suffer from this particular form. The signs of the disease are less pronounced here, but still interfere with the normal development of the child. The extra chromosome appears during the phase when the embryo consists of several cells, so only part of the organism or a single organ is affected.
• Possible translocation. Here there is not only nondisjunction of chromosomes, but also an overabundance of information generated by translocation rearrangement. It manifests itself both during the maturation of gametes and during the development of the embryo. Deviations are not pronounced here.

Prevalence of the syndrome

The risk of Edwards syndrome cannot be expressed in exact numbers. The lower limit of the birth of a child with such an anomaly is 1:10000, the upper one is 1:3300. At the same time, it occurs 10 times less often than Down syndrome. The average conception rate for children with Edwards disease is higher - 1:3000.

According to research, the risk of having a baby with this syndrome increases with the age of parents over 45 years by 0.7%. But it is also present in 20-, 25-, 30-year-old parents. The average age of the father of a child with Edwards syndrome is 35, the mother is 32.5.

Anomaly is also related to gender. It has been proven to be 3 times more common in girls than in boys.

Syndrome and pregnancy

Shows its signs of Edwards syndrome even at the stage of pregnancy. The latter proceeds with a number of complications, is characterized by overbearing - babies are born around the 42nd week.

At the stage of pregnancy, the disease of the fetus is characterized by the following:

• Insufficient activity of the embryo.
• Bradycardia - reduced heart rate.
• Polyhydramnios.
• Mismatch between the size of the placenta and the size of the fetus - it has a smaller size.
• Development of one umbilical artery instead of two, leading to oxygen deficiency, asphyxia.
• Abdominal hernia.
• Plexus of vascular formations visible on ultrasound (found in 30% of children affected by the syndrome).
• Underweight fetus.
• Hypotrophy is a chronic disorder of the gastrointestinal tract.

60% of babies die in the womb.

Antenatal Diagnosis

Edwards syndrome on ultrasound can only be determined by indirect signs. The most accurate method for diagnosing the syndrome in a fetus today is perinatal screening. Based on it, if there are alarming suspicions, the doctor already directs the woman for invasive testing.

Screening for the karyotype of Edwards syndrome is divided into two stages:

1. The first is carried out at 11-13 weeks of pregnancy. Biochemical indicators are being studied - the mother's blood is checked for hormone levels. The results at this stage are not final - they can only indicate the presence of risk. Forcalculations, the specialist needs protein A, hCG, a protein produced by the membranes of the embryo and placenta.
2. The second stage is already aimed at the exact result. For research, a sample of cord blood or amniotic fluid is taken, which is then subjected to genetic analysis.

Invasive testing

Edwards syndrome chromosomes are most likely to be determined by this method. However, it necessarily involves surgical intervention and penetration into the membranes of the embryo. Hence the risk of abortion and the development of complications, which is why the test is prescribed only in extreme cases.

Three types of sampling are known today:

1. CVS (chorionic villus biopsy). The main advantage of the method is that the sample is taken starting from the 8th week of pregnancy, which allows early detection of complications. For research, you need a sample of the chorion (one of the layers of the placental membrane), the structure of which is similar to the structure of the embryo. This material allows diagnosing intrauterine infections, genetic and chromosomal diseases.
2. Amniocentesis. The analysis is carried out starting from the 14th week of pregnancy. In this case, the amniotic membranes of the embryo are pierced with a probe, the instrument collects a sample of amniotic fluid containing the cells of the unborn child. The risk of complications from such a study is much higher than in the previous case.
3. Cordocentesis. Deadline - not earlier than the 20th week. Here, a sample of the umbilical cord blood of the embryo is taken. The difficulty is that when taking the material, a specialist does notthe right to make a mistake - he must hit the needle exactly in the vessel of the umbilical cord. In practice, this happens like this: a puncture needle is inserted through the anterior wall of the woman's peritoneum, which collects about 5 ml of blood. The procedure is carried out under the control of ultrasound devices.

All the above methods cannot be called painless and safe. Therefore, they are carried out only in cases where the risk of a genetic disease in the fetus is higher than the risk of complications from taking material for analysis.

Parents should remember that a doctor's mistake during the procedure can lead to the manifestation of serious diseases, congenital malformations in the unborn child. The risk of sudden termination of pregnancy from such an intervention cannot be ruled out.

Non-invasive testing

Diagnosis of Edwards syndrome in the fetus includes non-invasive methods. That is, without penetration into the fetal membranes. Moreover, such methods are exactly as good as invasive ones.

One of the highly accurate analyzes of this type can be called karyotyping. This is the taking of a blood sample from the mother, which contains the free DNA of the embryo. Specialists extract them from the material, copy them, and then carry out the necessary research.

Postpartum Diagnosis

A specialist can identify children with Edwards syndrome and by external signs. However, the following procedures are performed to make a definitive diagnosis:

• Ultrasound - the study of pathologies of internal organs, necessarily the heart.
• Tomography of the brain.
• Consultation of a pediatric surgeon.
• Examinations by specialists - endocrinologist, neurologist, otolaryngologist, ophthalmologist who previously worked with children suffering from this disease.

Deviations in the syndrome

Pathologies caused by trisomy 18 are quite serious. Therefore, only 10% of children with Edwards syndrome survive to a year. Basically, girls live no more than 280 days, boys - no more than 60.

Children have the following external abnormalities:

• Skull elongated from crown to chin.
• Microcephaly (small head and brain).
• Hydrocephalus (accumulation of fluid in the skull).
• Narrow forehead with wide nape.
• Abnormally low ears. Lobe or tragus may be missing.
• Shortened upper lip for a triangular mouth.
• High sky, often with a gap.
• Deformed Jawbones - The lower jaw is abnormally small, narrow and underdeveloped.
• Trimmed neck.
• Abnormally narrow and short palpebral fissures.
• Missing part of the eye membrane, cataract, coloboma.
• Violation of the functions of the joints.
• Underdeveloped, inactive feet.
• Due to the abnormal structure of the fingers, flipper-like limbs may form.
• Defect of the heart.
• Abnormally expanded chest.
• Disrupted work of the endocrine system, in particular, the adrenal glands and the thyroid gland.
• Unusual bowel arrangement.
• Irregular kidney shape.
• Doubling of the ureter.
• Boys have cryptorchidism, girls have hypertrophied clitoris.

Mental deviations are usually the following:

• Underdeveloped brain.
• Complicated oligophrenia.
• Convulsive syndrome.

Prognosis for patients with Edwards syndrome

Unfortunately, today the forecasts are disappointing - about 95% of children with this disease do not live up to 12 months. At the same time, the severity of its form does not depend on the ratio of diseased and he althy cells. Surviving children have deviations of a physical nature, a severe degree of mental retardation. The vital activity of such a child needs comprehensive control and support.

Often, children with Edwards syndrome (photos are not presented in the article for ethical reasons) begin to distinguish the emotions of others, smile. But their communication, mental development is limited. The child may eventually learn to raise his head, eat.

Therapy Options

Today, such a genetic disease is incurable. The child is prescribed only supportive therapy. The patient's life is associated with many anomalies and complications:

• Muscular atrophy.
• Squint.
• Scoliosis.
• Failures in the cardiovascular system.
• Intestinal atony.
• Low tone of the peritoneal walls.
• Tit.
• Pneumonia.
• Conjunctivitis.
• Sinusitis.
• Diseases of the genitourinary system.
• Bigchance of developing kidney cancer.

Conclusion

Summarizing, I would like to note that Edwards syndrome is not inherited. Patients in most cases do not live to reproductive age. At the same time, they are not capable of procreation - the disease is characterized by the underdevelopment of the reproductive system. As for the parents of a child with Edwards syndrome, the chance of making the same diagnosis in the next pregnancy is 0.01%. I must say that the disease itself manifests itself very rarely - it is diagnosed in only 1% of newborns. There are no special reasons for its occurrence - in most cases, the parents are perfectly he althy.