Can babies with trisomy survive? There are trisomies with which babies can survive, including the most well known, trisomy 21 (Down Syndrome). The likelihood of survival and the extent of associated abnormalities are determined by the particular trisomy in question. The most common trisomies are:
- Trisomy 21 (Downs Syndrome): This is the most common trisomy seen in live births (trisomy 16 is the most common trisomy but it invariably ends in miscarriage) with about 0.1% of all pregnancies resulting in a baby with Down Syndrome. The older the mom at the time of conception, the higher the risk of having a baby with Down Syndrome. Most babies born with trisomy 21 do survive, though they have varying degrees of intellectual and physical growth delay along with characteristic physical and anatomical anomalies. Most babies born with Down Syndrome with proper medical care can live well into their 50’s and even 60’s!
- Trisomy 18 (Edward’s Syndrome): This is the second most common trisomy seen in live births. Most babies born with trisomy 18 have physical defects involving almost every organ system resulting, unfortunately, in a very low survival rate beyond the first year of life.
- Trisomy 13 (Patau’s Syndrome): This is the third most common trisomy seen in live births and much like trisomy 18, these infants have a host of physical anomalies and malformations that almost always result in death before the end of the first year of life.
- Sex chromosome trisomies: These 0ccur when a baby has a third copy of either an X or Y chromosome. Normal females have two X chromosomes (XX) and normal males have an X and a Y chromosome (XY). In certain cases, infants can have an extra sex chromosome resulting in XXY (Klinefelter’s syndrome), XXX (triple-X syndrome) and XYY syndrome. People born with Klinefelter’s syndrome have a host of more subtle abnormalities including sterility, muscle weakness, tall stature, less body hair, smaller genitals and breast growth. Klinefelter’s is frequently not diagnosed until after the onset of puberty. Women with triple X syndrome appear and generally function normally and often times the diagnosis is never made. Men with XYY syndrome also have very subtle characteristics (tall stature, increased acne and a mild reduction in intelligence) that frequently goes unnoticed.
Why is trisomy awareness important? This gets to the heart of a discussion that every expectant couple has to have and one that I encourage all of my expectant parents to have very early on in the pregnancy. While there is nothing that can be done to prevent or treat the various trisomies, the information that testing provides can be invaluable.
Personally, my wife and I did some form of testing with all five of our pregnancies not because the results would change the outcome but because knowledge facilitates preparation. Being aware not only allows parents to be mentally and physically prepared but it also allows for physical preparation on the part of the healthcare team. Many babies born with a trisomy will have physical or anatomical defects that would be better cared for in a tertiary care center (a medical center with the highest level of care).
Beyond birth, there are a host of social and community resources available to parents and families of those affected. There really is no substitution for knowledge and preparation.
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Idries J. Abdur-Rahman, MD, FACOG is a board certified Obstetrician/Gynecologist. He practices alongside his twin brother Dr. Jamil (who is also a board certified Obstetrician/Gynecologist) in the Northwest Suburbs of Chicago. Dr. Idries is a married father of two son’s and three daughters and he is an avid traveler and runner. Learn more at TwinDoctorsTV.com.
