Noonan syndrome: Prenatal diagnosis in a woman carrying a PTPN11 gene mutation

Abstract

Objective. To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene.

Study design. Case report.

Results. We detected in a pregnant woman and her child the G<A transition at position 236 in exon 3 of the PTPN11 gene causative of NS. Antenatal diagnosis was possible through ultrasonography in the 24th week of gestation.

Conclusions. Ultrasonography 3D is useful in the antenatal diagnosis of major congenital anomalies. Molecular studies should also be included to confirm the specific diagnosis.

Keywords:

• Prenatal diagnosis
• Noonan syndrome
• PTPN11 gene

Acknowledgements

We thank to the patients that participated in this study and to PAPIIT, DGAPA, project number IN204508.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.