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Down Syndrome Research

Scientists conducting research on Down syndrome are investigating new prenatal diagnostic techniques and methods to improve understanding of the developmental consequences of the disorder. This research has led to many advances, such as preimplantation diagnosis. Couples who join research studies have the first chance to benefit from treatments that have shown promise in earlier research.

Down Syndrome Research: An Overview

Doctors and scientists are hard at work investigating Down syndrome. This research is designed to answer important questions about the condition. Already, their findings have led to many advances.

Current Areas of Research on Down Syndrome

Recently, it has been suggested that children with Down syndrome might benefit from medical treatment that includes amino acid supplements and a drug known as piracetam. Piracetam is a psychoactive drug that some believe may improve cognitive function. However, to date, there have been no controlled clinical studies conducted, in the United States or elsewhere, using this medication to treat Down syndrome that show its safety and effectiveness.
Scientists conducting research on Down syndrome have developed a mouse model to analyze the developmental consequences of the disorder. Mice are used because a large stretch of mouse chromosome 16 has many genes in common with those on human chromosome 21. Studying these models at varying stages of development will enhance our basic understanding of Down syndrome and may lead to the development of effective treatment strategies.
New prenatal diagnostic techniques are currently being developed, including a new, noninvasive test performed during the first trimester of pregnancy that samples and separates fetal cells from the mother's blood. The goal is to compare the accuracy of this type of cellular-level analysis with results obtained by amniocentesis or chorionic villus sampling (CVS).
Down syndrome research scientists are also developing a new method of diagnosis, called preimplantation diagnosis, or blastomere analysis before implantation (BABI), which allows doctors to detect chromosome imbalances before an embryo is implanted during in vitro fertilization.
This technique would primarily be used in:
  • Couples who are at risk of passing on X-linked disorders
  • Couples who have suffered repeated terminations of pregnancy
  • Subfertile couples
  • Those at risk for single-gene disorders.
This technique, which allows the doctor to provide a genetic diagnosis prior to implantation, has been successful so far for cystic fibrosis, Tay-Sachs disease, and Lesch-Nyhan syndrome. BABI allows a couple to begin their pregnancy knowing that the fetus is unaffected with the genetic disease of concern. For couples at high risk, this procedure provides an alternative to prenatal testing in the first or second trimester.
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