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Definition

Edwards Syndrome depicts a group of birth defects due to the presence of added genetic material from chromosome 18. It is also known as Trisomy 18, because in majority of the cases there are three copies of chromosome 18 in the place of the usual two. This extra material has an effect on the baby's development and leads to external and internal physical defects.

Symptoms

The primary symptoms of Edwards syndrome has primary symptoms such as:

  • Physical Abnormalities
    • Microcephaly (small and abnormally shaped head)
    • Micrognathia (abnormally small jaw and mouth)
    • Long, overlapping fingers and underdeveloped fingernails
    • Scrunched fists
    • Low-set ears
    • Arched spine and abnormally shaped chest
    • Crossed legs
    • Umbilical hernia
    • Low birth weight
  • Heart problems
  • Developmental disorders

Risk Factors

Babies born with the Edwards syndrome often have petite heads, clinched fists and curved feet, and may have kidney, heart and skeletal issues. A lot of babies with Edwards syndrome die before birth, and of those born alive have 90% chances of death within the very first year. Babies with lesser forms of deficiency may live on to see adulthood but will have extreme mental and physical handicaps.

Tests such as Amniocentesis and Chorionic villus sampling (CVS) tests can help in prenatal diagnosis and are generally considered safe; though there is a small risk of miscarriage. Age of the pregnant mother is also measured as a risk factor for any chromosomal issues and the doctor may advocate advanced testing.

Diagnosis

Routine prenatal screening during 18th- 20th week of pregnancy can discover signs of the syndrome, and genetic testing can authenticate the existence of the aberrant genetic material. Babies who are born with the syndrome will require medical attention from a wide variety of specialists.

Advanced Parental Testing:

Based on early screening and ultrasounds, if a high risk of genetic abnormalities is identified, the pregnant woman may choose to have more advanced tests to check for any anomaly. Amniocentesis and Chorionic Villus Sampling (CVS) are the two procedures used to test for genetic defects.

Treatment

The abnormalities associated with Edwards syndrome are by and large so severe that most of the babies born die within the first year. Those who survive will have several serious medical and developmental issues.

Though there is no cure for the condition, a baby with health and growth issues will need treatment and continuous care from varied specialists just to thrive.

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