Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations Clinical Trial
Official title:
Contribution of High-throughput Exome Sequencing in Fetopathology
This research concerns the contribution of a new examination, high-throughput exome
sequencing, in the diagnosis of the cause of polymalformative fetal syndromes. With currently
available examinations, the causes of polyformative syndromes, which correspond to the
association of several congenital malformations with varying degrees of severity in different
organs, remain unknown in a large number of cases.
High-throughput exome sequencing (HTES) is a diagnostic tool that allows the simultaneous
analysis of all of the coding parts of DNA. This examination has already shown its superior
diagnostic capability in every post-natal diagnostic context, in particulier in infants with
malformations associated or not with intellectual deficiency. Its contribution has not yet
been studied in a large number of fetuses with polymalformations. To investigate the
usefulness of HTES, we propose to carry out the examination in 100 fetuses with
polymalformations, as well as the usual examinations including chromosomal microarray
analysis and possibly the study of specific genes that may explain these malformations. A
blood sample will be taken from both parents to allow interpretation of the results.
n/a