Management of Pregnancy in a Carrier of the Donohue Mutation

The document reports on the management of six pregnancies in a woman who is a carrier of the Donohue mutation, a rare autosomal recessive disorder characterized by severe insulin resistance and often fatal within the first year of life. The first pregnancy resulted in the delivery of a lifeless female infant at 25 weeks' gestation. The second pregnancy, after treatment for gestational diabetes, resulted in the birth of a male infant who was later diagnosed with Donohue syndrome and died at 9 months old. Genetic testing confirmed the mother as a carrier of the mutation. The third pregnancy ended in a miscarriage. In the subsequent three pregnancies, prenatal diagnosis via chorionic villus sampling was performed, and no mutations were found in two infants, while one was a carrier like the mother. These pregnancies resulted in the birth of three healthy infants. The document emphasizes the importance of genetic testing for the Donohue mutations in affected babies and their parents, and the option of prenatal diagnosis for carriers to inform pregnancy management decisions.