Case Study Highlights Challenges of Diagnosing CEP Before Birth

Case Study Highlights Challenges of Diagnosing CEP Before Birth

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Case Study Highlights Challenges of Diagnosing CEP Before Birth

Unusual cases of congenital erythropoietic porphyria (CEP) occurring before birth may lead to miscarriage, as highlighted in a recent study describing the cases of two siblings. The amniotic fluid — the liquid that surrounds the developing fetus in the womb — in both pregnancies was not dark as expected for prenatal CEP, which made the diagnosis difficult, the researchers noted. The case study, “An Atypical Case of Congenital Erythropoietic Porphyria,” was published in the journal…

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