Pathogenic missense variants in COL1A1 or COL1A2 were diagnosed in five fetuses (Case 17-P, 49-T, 90-PRE, 65-PRE, 66-PRE, Table 2) with a skeletal dysplasia phenotype, including shortened long bones and/or abnormalities of the thorax (n = 5), abnormalities of the skull (n = 2), absent fetal nasal bone (n = 1), edema (n = 1), intrauterine growth retardation (n = 1), abnormality of the umbilical cord (n = 1), cardiac abnormalities (n = 1), and genital abnormalities (n = 1) (Table 2). The gene discussed is COL1A1; the disease is skeletal dysplasia.