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

Prenat Diagn. 2024 Apr;44(4):398-400. doi: 10.1002/pd.6549. Epub 2024 Mar 8.

Authors

Olivia B Chafitz¹, Nicole S Feigenblum^{1

2}, Andrew S Haddad^{1

2}, Yaakov E Abdelhak¹, Antonia F Oladipo^{1

2}

Affiliations

¹ Hackensack University Medical Center, Hackensack, New Jersey, USA.
² Hackensack Meridian School of Medicine, Nutley, New Jersey, USA.

PMID: 38459741
DOI: 10.1002/pd.6549

No abstract available

Publication types

Case Reports

MeSH terms

Collagen Type I / genetics
Female
Humans
Mutation
Noninvasive Prenatal Testing*
Osteogenesis Imperfecta* / diagnosis
Osteogenesis Imperfecta* / genetics
Pregnancy
Prenatal Diagnosis

Substances

Collagen Type I