Trisomy 18 (Edwards Syndrome) (cont.)
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.
Charles Patrick Davis, MD, PhD
Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.
In this Article
- What is trisomy 18?
- What causes trisomy 18? What are the different kinds of trisomy 18?
- What are the signs and symptoms of trisomy 18?
- How is trisomy 18 diagnosed?
- What is the treatment for trisomy 18?
- What is the life expectancy for someone with trisomy 18?
- Find a local Doctor in your town
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.
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