Abstract
Non-immune hydrops fetalis (NIHF) is not a disease but rather a symptom of a life-threatening fetal condition usually diagnosed by prenatal ultrasound. The morbidity and mortality of NIHF depend on the genetic etiology which cannot be determined by the presence of NIHF alone. A significant number of single gene disorders are associated with NIHF, but it is challenging for clinicians to adequately investigate all of them. Therefore, understanding the spectrum of monogenic disorders associated with NIHF is important for early diagnosis and genetic evaluation, thereby facilitating genetic counseling and effective management during pregnancy or the neonatal period.
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