Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study

J Ultrasound Med. 2024 Mar;43(3):491-499. doi: 10.1002/jum.16379. Epub 2024 Jan 2.


Objective: To prospectively evaluate the prognosis of fetuses diagnosed with micrognathia using prenatal ultrasound screening.

Methods: Between January 2019 and December 2022, a normal range of IFA to evaluate the facial profile in fetuses with micrognathia in a Chinese population between 11 and 20 gestational weeks was established, and the pregnancy outcomes of fetal micrognathia were described. The medical records of these pregnancies were collected, including family history, maternal demographics, sonographic findings, genetic testing results, and pregnancy outcomes.

Results: Ultrasound identified 25 patients with fetal micrognathia, with a mean IFA value of 43.6°. All cases of isolated fetal micrognathia in the initial scans were non-isolated in the following scans. A total of 78.9% (15/19) cases had a genetic cause confirmed, including 12 with chromosomal abnormalities and 3 with monogenic disorders. Monogenic disorders were all known causes of micrognathia, including two cases of campomelic dysplasia affected by SOX9 mutations and one case of mandibulofacial dysostosis with an EFTUD2 mutation. In the end, 19 cases were terminated, 1 live birth was diagnosed as Pierre Robin syndrome, and 5 cases were lost to follow-up.

Conclusion: IFA is a useful indicator and three-dimensional ultrasound is a significant support technique for fetal micrognathia prenatal diagnosis. Repeat ultrasound monitoring and genetic testing are crucial, with CMA recommended and Whole exome sequencing performed when normal arrays are reported. Isolated fetal micrognathia may be an early manifestation of monogenic disorders.

Keywords: EFTUD2; SOX9; micrognathia; prenatal diagnosis; prognosis; whole exome sequencing.

MeSH terms

  • Female
  • Fetus
  • Humans
  • Micrognathism* / diagnosis
  • Micrognathism* / genetics
  • Peptide Elongation Factors
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Prospective Studies
  • Ribonucleoprotein, U5 Small Nuclear
  • Ultrasonography, Prenatal / methods


  • EFTUD2 protein, human
  • Peptide Elongation Factors
  • Ribonucleoprotein, U5 Small Nuclear