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What is Aneuploidy?

Mary McMahon
Updated Mar 03, 2024
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Aneuploidy refers to a disruption in an organism's normal number of chromosomes. Many serious birth defects and congenital conditions are linked to aneuploidy, as the chromosomes are the repository of DNA, a crucial component of life. In many cases, a fetus with aneuploidy will be spontaneously aborted before it is fully developed, and in others the organism may have a difficult time surviving after birth. In other instances, aneuploidy represents a handicap, but the organism is able to live a happy and healthy life despite the challenge.

Humans typically include testing for aneuploidy in their routine pre-natal testing. If an aneuploidy is identified, the parents are forewarned about the issues which may face their child. In some cases, parents choose to terminate the pregnancy if the aneuploidy is associated with severe, crippling birth defects which would make the baby's life short and unpleasant.

The causes of aneuploidy are not fully understood, but the mechanics are. Aneuploidy is caused by an error in meiosis, the division of cells to create gametes. A gamete is a cell which normally has a haploid set of chromosomes, meaning that it contains 50% of the genetic information of the parent organism. When a gamete joins with a gamete from another organism, a complete set of chromosomes is created, and it develops into an entirely new organism.

The first step in meiosis involves the duplication of a cell into two complete copies. Each copy then splits in two, creating four cells from the original parent cell. When the chromosomes in a cell fail to completely divide, the daughter cell may end up with an extra chromosome within an otherwise haploid set. When the gamete joins with another gamete, the resulting condition is trisomy, meaning that one of the chromosome pairs has turned into a triad.

If, on the other hand, a chromosome becomes deleted or damaged, the condition is known as monosomy. Monosomy refers to the fact that one of the chromosomes in an otherwise diploid set is unpaired. In humans, this would mean that the baby only has 45 chromosomes, instead of the normal 46, or that one of the chromosomes in a pair is badly damaged.

These chromosome disorders can be readily recognized during prenatal testing, since chromosomes can be readily dyed and counted. Genetic conditions are linked to specific chromosomes; trisomy 21, for example, refers to an extra copy of the 21st chromosome, resulting in Down's Syndrome.

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Mary McMahon
By Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a TheHealthBoard researcher and writer. Mary has a liberal arts degree from Goddard College and spends her free time reading, cooking, and exploring the great outdoors.

Discussion Comments

By ElizaBennett — On May 23, 2011

@jholcomb - That's terrible! I'm so sorry for what your family is going through. A friend of mine is a lab tech and does karyotyping (that's what they do after an amnio when they line up all the chromosomes to count them and see what's what). She says she will never, ever forget the first time she realized she was looking at chromosomes that showed a baby that wouldn't live, a little boy with trisomy 18. Because she works in a lab, she'll never meet the parents and knows nothing of their situation, but she said she couldn't stop thinking about it just the same.

By jholcomb — On May 20, 2011

"Aneuploidy" sounds so clinical, but these are truly devastating diseases. Very few aneuploidies can result in a live baby, and even then the situation can be quite grim. A cousin of mine found out in her second trimester that her baby had trisomy 13 ("fetal aneuploidy," they called it). The doctor urged them to terminate, but they decided that they would spend as much time with their baby as they could. She's 35 weeks along now and they will probably induce labor soon so that she and her husband (and their older daughter) will have a chance to meet and hold their little boy--probably for just a few hours.

Mary McMahon

Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a...

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