Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant

• Published in: Prenatal diagnosis Vol. 43; no. 13; pp. 1671 - 1673
• Main Authors: Rich, Matthew, Schroeder, Bradley, Manning, Courtney, Abbott, Mary‐Alice
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01-12-2023
• Subjects: Amniocentesis; Chromosomes; Cleft lip/palate; Copy number; Diagnosis; Ectrodactyly; Fetuses; Fibroblast growth factor receptor 1; Genetic diversity; Genetic variance; Holoprosencephaly; Hypoplasia; Prenatal diagnosis; Sequences
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.6472

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.
Key points
What's already known about this topic?
Hartsfield syndrome is a rare autosomal dominant condition caused by variants in the FGFR1 gene. This condition results in a unique combination of holoprosencephaly, cleft lip, and ectrodactyly.
What does this study add?
This case highlights the first presumed molecularly confirmed prenatal diagnosis of Hartsfield syndrome and identifies a new pathogenic variant.