Greater awareness of genetic testing for impaired fetal movement can save babies' lives

Barcelona, Spain: New genetic mutations responsible for impaired fetal movement, which leads to a multitude or problems in later life as well as early spontaneous abortion, have been identified by a group of scientists, the annual conference of the European Society of Human Genetics will hear tomorrow (Saturday 31 May). Dr. Katrin Hoffmann, of the Charité University Hospital, Berlin, Germany, will say that her team’s findings could lead to strategies to prevent multiple miscarriages, and for children born with fetal akinesia deformation sequence (FADS) due to impaired fetal movement in the womb.

FADS is a frequent genetic condition, affecting about 1 in 3000 pregnancies, and manifests itself in a number of ways – growth retardation, fetal hydrops (abnormal accumulation of fluid in the fetal organs), pulmonary hypoplasia (incomplete development of the lungs) and joint contractures. Studying a family in Oman with four affected children, and a history of multiple abortions, the scientists identified for the first time a genetic mutation on chromosome 2 which appeared to be implicated.

“The children in the family had contractures, a curved spine, and skin webbing” says Dr. Hoffmann. “When we carried out the genetic mapping we identified a mutation that encodes one of the sub-units of the acetylcholine receptor (AChR). Acetylcholine is a neurotransmitter; it transmits signals from nerve to muscle, enabling an individual to move. The genetic changes we found seriously disrupt the functioning of this receptor, meaning that the fetus cannot move properly in pregnancy.” Such a defect has multiple effects, since normal fetal movement is essential for normal fetal development and growth.