Skip Navigation LinksHome > April 2014 - Volume 26 - Issue 2 > Prenatal treatment of Down syndrome: a reality?
Current Opinion in Obstetrics & Gynecology:
doi: 10.1097/GCO.0000000000000056
PRENATAL DIAGNOSIS: Edited by James F. Smith Jr

Prenatal treatment of Down syndrome: a reality?

Guedj, Fayçala; Bianchi, Diana W.a; Delabar, Jean-Mauriceb

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Abstract

Purpose of review

Down syndrome affects more than 5 million people globally. During the last 10 years, there has been a dramatic increase in the research efforts focused on therapeutic interventions to improve learning and memory in Down syndrome.

Recent findings

This review summarizes the different functional abnormalities targeted by researchers in mouse models of Down syndrome. Three main strategies have been used: neural stem cell implantation; environmental enrichment and physical exercise; and pharmacotherapy. Pharmacological targets include the choline pathway, GABA and NMDA receptors, DYRK1A protein, oxidative stress and pathways involved in development and neurogenesis. Many strategies have improved learning and memory as well as electrophysiological and molecular alterations in affected animals. To date, eight molecules have been tested in human adult clinical trials. No studies have yet been performed on infants. However, compelling studies reveal that permanent brain alterations originate during fetal life in Down syndrome. Early prenatal diagnosis offers a 28 weeks window to positively impact brain development and improve postnatal cognitive outcome in affected individuals. Only a few approaches (Epigallocatechine gallate, NAP/SAL, fluoxetine, and apigenin) have been used to treat mice in utero; these showed therapeutic effects that persisted to adulthood.

Summary

In this article, we discuss the challenges, recent progress, and lessons learned that pave the way for new therapeutic approaches in Down syndrome.

© 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins

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