Patient Resources

Down Syndrome

Also known as Trisomy 21. An individual that has 3 copies of chromosome 21. Physical features include mild mental retardation, heart and thyroid defects. This is the major anomaly being tested for when pregnant women undergo Chorionic Villus Sampling (CVS) or amniocentesis in early pregnancy. The incidence of Down Syndrome and other aneuploidies is increased with increasing maternal age.

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