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Trisomy 18 (Edwards Syndrome) (cont.)

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What are the signs and symptoms of trisomy 18?

Today the majority of fetuses with trisomy 18 are diagnosed prior to birth and research indicates that many of these fetuses do not survive to birth. For those infants who do survive, they are at risk for any number of abnormalities, but the typical features include:

  • intrauterine growth retardation
  • craniofacial features such as abnormalities of the jaw, skull, ears, and neck
  • clenched fists with overriding fingers
  • small fingernails
  • short sternum
  • club feet
  • heart defects
  • kidney defects
  • neurodevelopmental delays

How is trisomy 18 diagnosed?

Most cases of trisomy 18 are diagnosed prenatally. Standard pregnancy screening during the first and second trimesters including serum markers (plasma protein, beta-hCG, alpha-fetoprotein, unconjugated estriol, and inhibin A) with ultrasound (nuchal translucency and other anatomic abnormalities) can accurately diagnose more than three quarters of all cases. Chorionic villi sampling (CVS) is another genetic-based test that can diagnose trisomy 18. This diagnosis of trisomy 18 is important in order to better prepare parents and caregivers due to the high risk of fetal demise and early postnatal death. There are a number of support groups available to families dealing with these types of issues.

Medically Reviewed by a Doctor on 4/29/2014

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Trisomy 18 - Symptoms Question: What signs and symptoms of trisomy 18 does your baby have?
Trisomy 18 - Life Expectancy Question: What's the life expectancy of your infant with trisomy 18?
Trisomy 18 - Ultrasound Question: Was trisomy 18 in your baby diagnosed with a prenatal ultrasound?

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