Hydrops fetalis: Incidence, Etiologies, Management Strategies, and Outcomes

Abstract

Tamiko Younge,1 Katherine M Ottolini,1 Huda B Al-Kouatly,2 Seth I Berger3 1Division of Neonatology, Children’s National Hospital, Washington, DC, USA; 2Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA; 3Center for Genetic Medicine Research, Rare Disease Institute, Children’s National Hospital, Washington, DC, USACorrespondence: Seth I Berger, Email [email protected]: Hydrops fetalis describes a pathologic over accumulation of fluid affecting multiple organs of the fetus or neonate. It is a rare condition with numerous etiologies, including many rare diseases. Causes of hydrops fetalis vary regionally based on prevalence of inheritable conditions and availability of RhD immune globulin to prevent immune hydrops fetalis. In some instances, the etiology remains unknown despite extensive evaluation. Overall, the prognosis is extremely poor, but it is also extremely variable and full recovery is possible. Prenatal management includes evaluation to determine etiology, which can provide prognostic value for counseling and medical decision-making. Diagnostic work-up often includes genetic testing with increasing evidence supporting the use of exome sequencing. Depending on the etiology, targeted therapies may be available or in development. Postnatal management emphasizes supportive care as diagnostic work-up continues. Perinatal palliative care plays an essential role for families affected by this challenging condition.Keywords: Hydrops fetalis, rare disease, prenatal diagnosis

Keywords

• hydrops fetalis
• rare disease
• prenatal diagnosis