Chromosomal Abnormalities

Close up of Chromosomes

The human body is complex ... made up of cells, each having a nucleus. Each nucleus contains 46 chromosomes, or 23 pairs, each pair having one chromosome from the biological mother’s egg and one from the biological father’s sperm. Each chromosome contains genes that determine our characteristics and traits. However, some chromosomes have abnormalities caused by too many or too few chromosomes, or changes in the structure of the chromosomes. Chromosomal abnormalities can be genetically passed from parent to child, or can occur during cell development.

The most common chromosomal abnormality is Down syndrome, also called Trisomy 21, where the person has an extra copy of the 21st chromosome. “Approximately one in every 700 babies in the United States is born with Down syndrome,” according to National Down Syndrome Society (NDSS). Mothers age 35 and over have a higher risk of having a baby with Down syndrome, which can lead to learning difficulties, poor muscle tone, and other conditions.

Chromosomal Abnormality Detection

In many instances, chromosomal abnormalities can be detected during pregnancy. Prenatal testing can determine if your baby is at high risk for a specific health condition. A positive result will lead to diagnostic testing, such as amniocentesis, which analyzes amniotic fluid, or chorionic villus sampling (CVS), where a piece of the placenta is tested.

If you are pregnant or planning to become pregnant, ask your Capital Women’s Care provider about the risk of chromosomal abnormalities based on your age and genetics. They can advise about which tests would be most appropriate.

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The providers of Capital Women's Care seek the highest quality medical and ethical standard in an environment that nurtures the spirit of caring for every woman.


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