Diagnosis of Noonan syndrome in pregnant women with nonimmune hydrops fetalis: tactics, outcomes, counseling

Extended genetic testing based on whole exome sequencing allows for the diagnosis of Noonan syndrome in pregnant women with nonimmune hydrops fetalis (NIHF). Conducted by Russian researchers study presents the clinical observations of three cases of NIHF associated with Noonan syndrome in the fetus. Married couples were examined and the inheritance pattern of variants associated with Noonan syndrome was determined. Genetic counseling was provided to the families, and a method for planning subsequent pregnancies was established.