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

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 GPTPN11 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.