[Analysis of 4628 cases in the genetic counseling clinic]

An analysis of 4628 cases in the genetic counseling clinic of the PUMC Hospital is reported. Altogether 966 cases (20.89%) were diagnosed as genetic diseases, among which were 436 cases (45%) with chromosomal aberrations, 161 (16.70%) with inherited metabolic diseases, 111 (11.50%) with constitutional bone diseases, 103 (10.70%) with various kinds of genetic muscular diseases, 109 (11.30%) with different dysmorphic syndromes, and 46 (4.80%) with different kinds of genetic dermatoses and oculopathies. 973 cases (21.00%) were suspected to be genetic diseases but could not be proved due to a lack of specific diagnostic methods. Some of the experiences gained and the key role of genetic counseling in preventing the birth of babies with congenital defects are briefly discussed.