Overview
Hydrops fetalis (HF) is characterized by the accumulation of fluid in two or more fetal compartments and is a life-threatening condition for the fetus 1. Nonimmune hydrops fetalis (NIHF) encompasses a broad spectrum of multisystem syndromes, cardiac disorders, hematologic disorders, and metabolic disorders 1.Diagnosis
NIHF has numerous potential monogenic etiologies 1.
Current diagnostic approaches may not be exhaustive and may miss many genes associated with NIHF 1.
Studies are needed to assess the utility of broad sequencing approaches like exome sequencing in the clinical management of HF 1.Management
Several monogenic etiologies of NIHF have treatment implications 1.Special Populations
Pregnancy: Hydrops fetalis is a condition affecting the fetus during pregnancy 1.Key Recommendations
Consider broad molecular testing for pregnancies with hydrops fetalis due to the numerous possible monogenic etiologies 1. (Evidence: Moderate)
Recognize that many genes strongly associated with NIHF may not be detected by current sequencing panels 1. (Evidence: Moderate)
Further studies are required to determine if broad sequencing approaches, such as exome sequencing, are beneficial in the clinical management of hydrops fetalis 1. (Evidence: Weak)References
1 Quinn AM, Valcarcel BN, Makhamreh MM, Al-Kouatly HB, Berger SI. A systematic review of monogenic etiologies of nonimmune hydrops fetalis. Genetics in medicine : official journal of the American College of Medical Genetics 2021. link