Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome

Taiwan J Obstet Gynecol. 2022 May;61(3):514-516. doi: 10.1016/j.tjog.2022.03.020.

Abstract

Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities.

Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hypoplastic zygomatic arches and bilateral low-set microtia were detected. Due to the unknown severity of the craniofacial abnormalities and poor prognosis, the parents decided to terminate the fetus after through counselling. A normal female karyotype was detected. The parents consented to chromosome microarray analysis (CMA), which identified a de novo mutation of the TCS1 gene locus on chromosome 5.

Conclusion: Molecular CMA is an effective tool for prenatal diagnosis of congenital craniofacial abnormalities associated with Treacher Collins syndrome.

Keywords: Microdeletion; TCOF1 gene; Treacher Collins syndrome.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Fetus / abnormalities
  • Humans
  • Mandibulofacial Dysostosis* / diagnostic imaging
  • Mandibulofacial Dysostosis* / genetics
  • Nuclear Proteins / genetics
  • Phosphoproteins / genetics
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • Nuclear Proteins
  • Phosphoproteins
  • TCOF1 protein, human