(Edwards' syndrome causes , diagnosis. Signs , treatment)

(Edwards' syndrome)

What is Edwards' syndrome?

Edwards' syndrome is a very rare condition caused by an abnormal amount of chromosomes in the cells of the body.Babies are normally born with 46 chromosomes, which are arranged in23 pairs.
A baby with Edwards' syndrome has three copies of chromosome 18, rather than the usual pair.
The condition is also known as trisomy 18.
Edwards' syndrome is a very serious condition.
 Sadly, most babies who are born with Edwards' syndrome only survive a few days, weeks, or months.
Those who survive longer than a year have a wide range of complex medical problems.
Babies with Edwards' syndrome don'tgrow as well as they should in the uterus (womb) and so have alow birth weight.
Their hearts and kidneys don't develop properly.
They have problems with feeding and breathing and they have severe learning difficulties.
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How common is Edwards syndrome?

Edwards' syndrome is very rare. About one pregnancy in every 1,500 is diagnosed with Edwards' syndrome. Screening tests, such as thecombined screening test, or privatenon-invasive prenatal testing (NIPT), will tell you your risk of having a baby with Edwards' syndrome.Diagnostic tests, such asamniocentesisorchorionic villus sampling (CVS), diagnose the condition.
Most women who are pregnant with a baby affected by Edwards' syndrome will experience amiscarriage.
The chromosomal abnormality means the pregnancy simply can't develop properly. Alternatively, because of the seriousness of the condition, parents-to-be may make the difficult decision to go through with a termination. Only one baby in 6,000 is actually born with Edwards' syndrome.
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.What causes Edwards' syndrome?

The causes are not known, but the risk of having a baby with Edwards' syndrome increases slightly as you become older. It is usually caused bya genetic abnormality in either the egg or sperm that created your baby.
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Signs and symptoms

Children born with Edwards syndrome mayhave some or all of these characteristics:
kidney malformations, structural heart defects at birth ,ventricular septal defect,atrial septal defect,patent ductus arteriosus), intestines protruding outside the body (omphalocele),esophageal atresia,intellectual disability, developmental delays, growth deficiency,feeding difficulties,breathing difficulties, andarthrogryposis(a muscle disorder thatcauses multiple joint contractures at birth).
Some physical malformations associated with Edwards syndrome include small head (microcephaly) accompanied by a prominent back portion of the head (occiput), low-set, malformed ears, abnormally small jaw (micrognathia),cleft lip/cleft palate, upturned nose, narrow eyelid folds (palpebral fissures), widely spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), a short breast bone, clenched hands, choroid plexus cysts, underdeveloped thumbs and/or nails,absent radius,webbingof the second and third toes,clubfootorrocker bottom feet, and in males,undescended testicles.
In utero, the most common characteristic is cardiac anomalies, followed by central nervous system anomalies such as head shape abnormalities.
The most common intracranial anomaly is the presence ofchoroid plexus cysts, which are pockets offluid on the brain.
These are not problematic in themselves, but their presence may be a marker for trisomy 18.
Sometimes, excessamniotic fluidorpolyhydramniosis exhibited.

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Diagnosing Edward's Syndrome

A diagnosis of Edward's syndrome may be reached by the physical abnormalities that are characteristic to the syndrome.

 A physical examination of the infant can show arched-type finger print patterns, for example, while X-rays can show a shortened breast bone.
A more definitive diagnosis can be reached through, 'karyotyping,' whichinvolves taking a sample of the infant's blood for examination of their chromosomes. Through use of specific stains and microscopy, identification of specific chromosomes is possible and the presences of an additional chromosome eighteen is shown.
Edward's syndrome is something that may be detected prior to the birth of the child. Potential testing includes maternal serum alpha-fetal protein analysis or screening, amniocentesis, ultrasonography, and chorionic villus sampling.
A woman who is pregnant with a child who has Edward's syndrome might have an uncommonly large uterus during the pregnancy because of the presence of extra amniotic fluid.
An unusually small placenta might be noted during the birthof the child.
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Treatment of Edward's Syndrome.

Medical science has not found a cure for Edward's syndrome at this time.
Babies with the syndrome commonly present with major physical abnormalities and doctors face hard choices in regards to their treatment. Surgery can treat some of the issues related to the syndrome, yet extreme and invasive procedures might not be inthe best interests of an infant whose lifespan could be measured in weeks or even days.
Treatment today consists of palliative care.
Approximately five to ten-percent of children with Edward's syndrome survive beyond their first year of life, requiring treatments that are appropriate for the various and chronic effects that are associated with the syndrome.
Problems related to nervous system abnormalities and muscle tone affect the development of the infant's motor skills, potentially resulting in scoliosis and crossed eyes or, 'esotropia.' Forms of surgical intervention might be limited due to the child's cardiac health.Infants with Edward's syndrome can experience constipation caused by poorabdominal muscle tone, something that can be a life-long problem. The results can be discomfort, fretfulness, and feeding issues. Special milk formulas, anti-gas medications, laxatives, stool softeners, as well as suppositories are potential treatments a doctor may recommend. Enemas are something that should not be given to a child with Edward's syndrome because they can deplete the child's electrolytes and alter their body fluid composition.Children with this syndrome exhibit severe developmental delays, although with early intervention through therapy programs and special education they may reach some developmental milestones.
They also seem to have an increased risk for the development of a, 'Wilms' tumor,' a form ofkidney cancerthat affects children for the most part.
It is recommended that children with Edward's syndrome have a routine ultrasound of their abdomen. Children with this syndrome might require treatment for:
Seizures
Club foot
Facial clefts
Spina bifida
Pneumonias
Ear infections
Eye infections
Hydrocephalus
Sinus infections
Apnea episodes
Urinary tract infections
Elevated blood pressurePulmonary hypertension
Congenital
heart disease
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Epidemiology

Edwards syndrome occurs in about one in 5,000 live births, but more conceptions areaffected by the syndrome because the majority of those diagnosed with the condition prenatally will not survive the prenatal period.Although women in their 20s and early 30s may conceive babies with Edwards syndrome, the risk of conceiving a child with it increases with a woman's age.
The average maternal age for conceiving a child with this disorder is 32½.
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المصادر

1- Wikipedia
2- BabyCentre
3- NetDoctor
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