According to literature, PGD is used to diagnose the following genetic diseases: Huntington’s chorea, ß-thalassaemia, cystic fibrosis, adrenoleucodystrophy (Addison-Schilder syndrome), sickle-cell anaemia, haemophilia A + B, pigmentary retinitis, spinal muscular atrophy, Wiskott-Aldrich syndrome, 21 ß-hydroxylase deficiency, Charcot-Marie-Tooth disease (peroneal muscular atrophy), myotonic dystrophy (Curschmann-Steinert syndrome), Marfan’s syndrome, Duchenne’s muscular dystrophy, Becker’s muscular dystrophy, imperfect osteogenesis, torsion dystonia, Lesch-Nyhan’s syndrome (hyperuricaemic syndrome).

Up-to-date information on the number of PGD procedures performed, the underlying indications, the number children born after PGD and false diagnosis is published by the European Society of Human Reproduction and Embryology (ESHRE). These are publications by the Consortium of the European Society of Reproduction and Embryology – an association of hospitals where PGD is practised.