COL1A1 and osteogenesis imperfecta: Prenatal trio-WES indicated a de novo missense variant, NM_000088: c.1436G > C p.G479A , in COL1A1 (120,150) on chromosome 17 in the fetus (Fig. 4), associated with osteogenesis imperfecta, type I (OMIM:166,200), type II (OMIM:166,210), type III (OMIM:259,420), type IV (OMIM:166,220), Ehlers-Danlos syndrome, arthrochalasia type 1 (OMIM:130,060), Caffey disease (OMIM:114,000), and bone mineral density variation QTL, steoporosis (OMIM:166,710); the couple elected TOP at 26 weeks.