Unexpected death of the fetus identified the genes involved.

Possible prevention through genetic testing.

Researchers at the FOUNDATION ARTEMISIA have identified the genes responsible for Sudden Intrauterine Unexplained Death Syndrome (SIUDS).

The study, published in the scientific journal JOURNAL OF PRENATAL MEDICINE, has identified genes that alter the function of ion channels in the fetal heart muscle. This alteration is responsible for the full cardiac arrest and then the death of the fetus. Genes are seven and accounted for approximately 200 mutations.

“The unexplained fetal death in utero have a higher incidence than white death in the crib. For this reason  from 2009 to 2012 our researchers – says Prof. Claudio Giorlandino, president of the Foundation Artemisia – have collected significant data from a prospective observational study on pregnant women who had had a case of SIUDS. These women performed a genetic test to the search for the genes of long QT syndrome (which causes sudden death in infants, children and adolescents). Fourteen cases have been identified and nine have been analyzed. At final evaluation seven fetuses were found positive for genetic mutations investigated. In the end, the analysis performed on the parents showed the direct transmission in one case (14.2%) and mutations in 6 cases (85.8%). ”

“So today the unexpected death in utero can be prevented by a genetic test. Our findings show that the majority of cases of unexplained fetal death (about 85% in this study) may be considered unexplained because of the failure to perform appropriate examinations post-mortem – the expert explains. Were also identified certain risk factors for SIUDS such as smoking and maternal obesity, such predisposing factors are also related to the “white death”. For these reasons – adds Prof. Giorlandino – we suggest running a genetic test in cases of unexplained intrauterine death and, more generally, to carry out a screening in women with established risk factors (previous unexplained fetal death, smoking, obesity, etc. .).

This is even more true when you consider the possibility of a pharmacological  treatment to be administered to the mother during pregnancy.