Caution with noninvasive prenatal screening for single gene disorders: A case report of a COL1A1 variant in osteogenesis imperfecta

Key points What is already known? Noninvasive prenatal screening (NIPS) for monogenic conditions is now available, and patients commonly pursue this despite normal sonographic findings or the absence of pertinent family history. What does this study add? This case underscores the limitations of NIPS for monogenic conditions in low‐risk populations and the importance of pre‐ and post‐test genetic counseling, family history, and parental testing. Further research is needed to determine the clinical utility of NIPS for single gene disorders in low‐risk populations.