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Article

Resolving fetal hydrops - A rare entity.

European journal of medical genetics - 1 Dec 2023

Saxena Deepti, Tiwari Amit K, Prasad Rameshwar, Srivastav Saumya

Abstract excerpt

Non-immune hydrops fetalis (NIHF) is abnormal accumulation of serous fluid in ≥2 interstitial spaces with no evidence of maternal red cell alloimmunization. Leaving a few treatable conditions, it is generally considered as a sign of poor fetal outcome. Bi-allelic variants in THSD1 have been found to be to be associated with phenotypes ranging from lethal NIHF to persistent edema. Here, we report a family with...

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PMID: 37993095
DOI: 10.1016/j.ejmg.2023.104888

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