Trisomy 18
(Edwards Syndrome)
Melissa Conrad Stöppler, MD
Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
David Perlstein, MD, MBA, FAAP
Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.
- Trisomy 18 facts
- What is trisomy 18?
- What are the chromosome basics of trisomy 18?
- What are the characteristic signs and symptoms of trisomy 18?
- How common is trisomy 18?
- How is trisomy 18 diagnosed?
- Can people with trisomy 18 survive to adulthood?
- Is there any treatment for trisomy 18?
- Patient Comments: Trisomy 18 - Testing
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Trisomy 18 facts
- Trisomy 18 (Edwards syndrome) results from the presence of an extra copy of chromosome 18.
- Trisomy 18 leads to severe intellectual and physical defects.
- The prognosis of trisomy 18 is poor; half of those affected do not live beyond the first week of life and only 10% of infants with this condition live beyond the first year.
- Common features of trisomy 18 include a low birth weight; a small jaw and mouth; an abnormally shaped, small head; overlapping fingers and clenched fists; and defects in the heart and other organs.
- Trisomy 18 occurs on average in 1 out of every 6,000 births.
- Up to 95% of fetuses with trisomy 18 die in the prenatal period (prior to delivery).
- Girls are affected more commonly than boys.
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