During pregnancy, one or more developmental abnormalities can be revealed by antenatal imaging, the severity and prognosis of which are assessed at the multidisciplinary center for prenatal diagnosis (CPDPN). Additional information is provided to parents by specialists from the multidisciplinary team.

The role of the geneticist is essential in the event of a family history or specific diagnostic suspicion He/She : establishes a diagnosis, coordinates the care of the fetus or the follow-up of the newborn, and provides genetic counseling and care for the families . With diagnostic progress both from an imaging and biological genetics point of view, care needs are growing and require more and more expert actors in the field of fetal medicine. Our center in Necker is multidisciplinary and includes medical and paramedical actors from the rare diseases genomic medicine department, genetic counsellors, obstetricians and radiologists/imagers involved in research on rare diseases and makes it possible to offer enlightened care to couples, based on targeted genetic or pan-genomic analyzes.

In some cases, when there is a high probability that the unborn child is suffering from a particularly serious and incurable condition at the time of diagnosis, the parents may be required to make a request for medical termination of pregnancy (MTP). A comprehensive post-mortem fetal examination or fetal placental examination (FPE) is offered to parents to help in the diagnosis of fetal malformations, by identifying the cause and/or the mechanism of early fetal or neonatal loss, where abnormalities of embryofetal development have an important part. Fetopathology is a transversal discipline, at the same time clinical, morphological and radiological. In 2014, as part of the second national rare diseases plan, foetopathology through SOFFOET (Société Française de FOETopathologie) integrated the AnDDI-Rares healthcare network joining the 8 “developmental anomalies and malformative syndromes”  labeled centers  from FeCLAD.