Duo WES of the fetus and biological father revealed a heterozygous splicing variant (NM_000089.3:c.2133 + 5 G > A) in COL1A2 (MIM 120160) that was associated with osteogenesis imperfecta Type II (MIM 166210). The gene discussed is COL1A2; the disease is osteogenesis imperfecta type 2.