Abstract
We report the case of a pregnant lady who had hydrops fetalis in three successive
pregnancies and discuss the possible genetic causes and the systematic approach to
evaluation of her pregnancy and her future reproductive options. Hydrops fetalis can
occur due to a heterogeneous number of causes. Systematic evaluation helps in determining
the cause which then determines the prognosis as well as recurrence in future pregnancies.
Recurrent hydrops though rare, can occur because of single gene defects causing hematological,
neurological, cardiac conditions, etc. Genetic testing and consideration of the role
of exome sequencing is important in counseling families regarding their future pregnancy
options as well as to offer prenatal diagnosis.
Keywords
Hydrops - Recurrent - Genetic mutations - Cardiomyopathy - Counseling - Exome sequencing
- Case report
