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Edwards' Syndrome

written by: •edited by: Paul Arnold•updated: 11/8/2009

Edwards' Syndrome is a genetic abnormality that occurs once in every 3,000 births. The condition affects girls more often than boys, and the prognosis is very grim for those children born with it.

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    Who Does Edwards' Syndrome Affect?

    Edwards' syndrome is the result of an extra copy of chromosome 18. This condition is usually fatal for those babies born with it, since it causes severe mental retardation as well as major physical challenges. The life expectancy for an infant born with Edwards' Syndrome is usually less than 12 months.

    Humans normally have 23 pairs of chromosomes. They inherit one set from each parent. For a baby born with Edwards' syndrome, the infant actually has three chromosome 18s, instead of two. The syndrome occurs in approximately one in every 3,000 births. Girls are more likely to be born with Edwards' than boys, and people from all cultural backgrounds are affected.

    The risk of giving birth to a child with the syndrome increases with maternal age, but women in their twenties and early thirties can have a child with the condition as well.

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    Edwards' Syndrome Diagnosis

    An ultrasound scan during pregnancy can identify any fetal abnormalities. Women who are age 35 or older, who have miscarried in the past, or who have previously given birth to a child with genetic abnormalities can be tested. Genetic testing by maternal serum analysis or amniocentesis can confirm diagnosis. After birth diagnosing this genetic abnormality can be done by drawing a blood sample.

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    Symptoms of Edwards' Syndrome

    A baby born with Edwards' syndrome may have an unusually small head, a cleft palate, or a cleft lip. The ears are set low on the head, and the mouth and jaw are unusually small. The baby's hands may be clenched into fists, and the youngster may have club feet as well.

    The lungs or the diaphragm may be abnormal, and the heart may be malformed as well. These abnormalities may be treated with surgery, but that may not be the best course of action in situations where the infant is not expected to live past his or her first birthday. About half of infants with Edwards' syndrome die within the first two months of life, and between 90-95 percent don't live to see their first birthday. The few children who live past the first year are severely mentally retarded and will find skills like walking difficult.






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