Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant
A G2P0, 24-year-old woman presented at 17 weeks 3 days gestation for a fetal anatomy scan. Ultrasound identified bilateral upper and lower extremity ectrodactyly, semilobar holoprosencephaly, midface hypoplasia, and cleft lip and palate. Amniocentesis for a chromosome microarray demonstrated no significant copy number changes. Whole exome sequencing was subsequently completed, which revealed a de novo, likely pathogenic variant in FGFR1, c.2044G>A (D682N), consistent with FGFR1-related Hartsfield syndrome. This case highlights the first presumed molecularly confirmed prenatal diagnosis of Hartsfield syndrome and identifies a new pathogenic variant.
Rich M, Schroeder B, Manning C, Abbott MA. Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant. Prenat Diagn. 2023 Nov 27. doi: 10.1002/pd.6472. Epub ahead of print.