Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2019 Dec;179(12):2365-2373.
doi: 10.1002/ajmg.a.61359. Epub 2019 Sep 11.

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies

Linda Mouthon  1 , Tiffany Busa  2 , Florence Bretelle  3 , Houda Karmous-Benailly  4 , Chantal Missirian  5 , Nicole Philip  2   3 , Sabine Sigaudy  2   3
Affiliations

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies

Linda Mouthon et al. Am J Med Genet A. 2019 Dec.

Abstract

Fetal micrognathia can be detected early in pregnancy. Prognosis of micrognathia depends on the risk of respiratory distress at birth and on the long-term risk of intellectual disability. The purpose of this study was to evaluate the long-term prognosis of fetuses with prenatal diagnosis of micrognathia by estimating the prevalence and the severity of confirmed genetic diagnosis in our cohort. Our retrospective study included 41 fetuses with prenatal diagnosis of micrognathia referred to the multidisciplinary centers for prenatal diagnosis in Nice and Marseille, France, between 2006 and 2016. Fetal micrognathia was associated with cleft palate in 27 cases. A genetic cause was confirmed in 21 cases (67%). A chromosomal abnormality was present in 12 cases, including three copy-number variations diagnosed by array CGH. Monogenic disorders were identified in nine cases, most often after birth. Fetuses with family history of micrognathia or Pierre Robin sequence had a favorable outcome. Prognosis was good for the fetuses without associated findings and normal chromosomal analysis, with the exception of one case with a postnatal diagnosis of mandibulofacial dysostosis with microcephaly. Prognostic was poor for the fetuses with additional ultrasound anomalies, as only 5 out of 28 children had a good outcome. Prenatal diagnosis of micrognathia is an indicator of a possible fetal pathology justifying multidisciplinary management. Our study confirms the necessity of performing prenatal array CGH. Use of high-throughput gene sequencing in prenatal period could improve diagnostic performance, prenatal counseling, and adequate postnatal care.

Keywords: EFTUD2; NEDD4L; Pierre Robin sequence; Stickler syndrome; micrognathia; prenatal diagnosis.

PubMed Disclaimer

References

REFERENCES

    1. Broix, L., Jagline, H., Ivanova, E., Schmucker, S., Drouot, N., Clayton-Smith, J., … Chelly, J. (2016). Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nature Genetics, 48(11), 1349-1358.
    1. Cluver, C., Meyer, R., Odendaal, H., & Geerts, L. (2013). Congenital rubella with agenesis of the inferior cerebellar vermis and total anomalous pulmonary venous drainage. Ultrasound in Obstetrics & Gynecology, 42(2), 235-237.
    1. Deng, L., Cheung, S. W., Schmitt, E. S., Xiong, S., Yuan, M., Chen, Z., … Sun, L. (2018). Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios. Birth Defects Research, 110(4), 364-371.
    1. Di Pasquo, E., Amiel, J., Roth, P., Malan, V., Lind, K., Chalouhi, C., … Abadie, V. (2017). Efficiency of prenatal diagnosis in Pierre Robin sequence. Prenatal Diagnosis, 37(11), 1169-1175.
    1. Hoskinson, D. C., Dubuc, A. M., & Mason-Suares, H. (2017). The current state of clinical interpretation of sequence variants. Current Opinion in Genetics & Development, 42, 33-39.

LinkOut - more resources