Good practice recommendations in the molecular diagnosis of miscarriage and abortion due to multiple congenital malformations

Aims: Congenital anomalies can cause anxiety within a family and high healthcare demand. The aim of this study was to write good practice recommendations to guide health professionals in the clinical-genetic diagnosis of congenital defects. Methods: The proposed protocol focuses on an optimal case scenario that includes collection of initial clinical data, biological sampling, and diagnostic algorithms. Results: A model of the optimal clinical history form was created to facilitate the collection of initial clinical data. For sampling, it is recommended to obtain at least one fetal sample (of the three embryonic germ layers). Moreover, samples from both parents should be taken to exclude mosaicism, following the diagnostic algorithm proposed for the correct genetic diagnosis of the corresponding congenital defect. Conclusion: This document is the first to gather good practice recommendations for the pre and post-natal genetic diagnosis of miscarriages and abortions due to congenital defects. (C) 2015 Elsevier Espana, S.L.U. All rights reserved.