Present situation in Spain regarding the etiologic diagnosis in foetuses from termination of pregnancy (ToP) due to congenital defects. Guidelines for a minimum protocol
Dismorfología y Genética ClínicaSince the passing of the Spanish law permitting termination of pregnancy (ToP) after the detection of foetal anomalies, in July 1985,
the ECEMC has undertaken the commitment to register the maximum information regarding the cases of ToP due to congenital anomalies.
This interest is not only prompted by the need of a proper surveillance of these pathologies, what is important for public health purposes,
but also for getting an etiologic diagnosis for each case; although this is only possible by retrieving minimum clinical and non-clinical
information, depending on each case. This is important, because not achieving an etiologic diagnosis implies not being able to provide
the family with information regarding recurrence risk, the risk for possible carriers among their healthy children, and for future pregnancies,
planning prenatal diagnosis, and pre-implantation diagnosis or assisted reproduction for certain pathologies.
At present, in Spain, there is no official protocol for the study of foetuses from ToP with congenital anomalies, what precludes from getting
prevention in all their different levels, starting by the possibility of having a correct diagnosis. To cover that need, and based on the
experience of the ECEMC, we highlight a small protocol with the minimal data to be collected to increase the possibilities to reach to a
proper diagnosis, and, therefore, provide the parents with complete information. From the point of view of the health practice, this is the
correct way, not only for getting the diagnosis, but because this is the only way to also help to diminish the awful situation of couples
undergoing ToP due to foetal malformations.N
