Yesterday, Santé publique France received a report from the "Remera" Registry regarding a child born in 2012 with a birth defect.

This report had not been previously recorded by the registry, even though the registry is supposed to ensure completeness. This completeness must cover all cases involving residents of the Ain department, regardless of whether the births took place in that department or not.

As Santé publique France had committed to doing, additional analyses have been initiated using hospital data (PMSI). This work is currently underway.

Santé publique France has already announced that it has identified the following in the PMSI database for the Ain department:

• Between 2000 and 2008: 7 suspected cases (upper limb deformities, including ATMS¹);

• Between 2009 and 2014: 4 additional suspected cases, among which is, in principle, the case reported by the newspaper Le Monde. These 4 cases are in addition to the 7 cases identified and reported by the Registry.

In the Ain department, over the period from 2000 to 2014, Santé publique France has therefore identified 11 additional suspected cases in addition to the 7 cases reported by the Remera registry. It is first necessary to assess, among these 11 suspected cases of upper limb reductions, which ones actually correspond to transverse agenesis of the upper limbs.

Analysis of the spatial and temporal distribution of confirmed ATMS cases over the 2000–2014 period (15 years) and further investigations are currently underway. It should be noted that conducting retrospective studies several years after birth will be complex, hence the importance of:

1. having a reliable, scientifically rigorous registry supported by university hospital teams and the European surveillance system Eurocat;

2. to produce a map of birth defects for the region in question (AURA) and the neighboring region to the north (BFC). Ultimately, incidence data will be produced region by region and department by department for the entire French territory and made accessible to the general public on the Agency’s website, based on the PMSI.

The surveillance of congenital anomalies requires registries and the consolidation of their operations, with the imperative of sound financial management and high scientific standards. To ensure its sustainability, Santé publique France has announced the establishment of a federation of congenital anomaly registries, in order to standardize and consolidate data collection within a shared database. This federation will provide a strengthened and more consistent surveillance system, enable better investigation of reports, better support smaller organizations, and link them to larger-scale scientific research. The report that prompted this initiative is available here.

Santé publique France has established a system for collecting reports and messages. We regularly receive these from families. The Agency attaches great importance to this issue and makes it a priority to respond to families and parents.

¹ all isolated transverse agenesis of the upper limbs (ATMS), namely: complete absence of an upper limb, combined absence of the forearm and hand, absence of the hand and finger(s) except for the absence of the thumb, and other non-longitudinal reduction anomalies, without any other major associated malformation, without chromosomal abnormalities, and without a known history of amniotic band syndrome (definition used by Santé publique France).