Prenatal Diagnosis of Hereditary Protein C Deficiency

Reuben S. Mibashan, David S. Millar, Charles H. Rodeck, Kypros H. Nicolaides, Anna Berger, Uri Seligsohn

Research output: Contribution to journalLetterpeer-review

6 Scopus citations

Abstract

To the Editor: Protein C is a naturally occurring vitamin K—dependent zymogen, which in its activated form is a potent anticoagulant directed against factors V and VIII.1 Heterozygous protein C deficiency is manifested by recurrent venous thromboembolism at a relatively young age, which is manageable by oral anticoagulant treatment.2,3 The homozygous state presents in the neonatal period as overwhelming venous thrombosis4 or purpura fulminans,5 6 7 8 with a high mortality rate. We have successfully carried out second-trimester prenatal diagnosis in a fetus at risk of homozygous protein C deficiency by fetal-blood sampling. The mother was a 34-year-old woman who had lost two.

Original languageEnglish
Pages (from-to)1607
Number of pages1
JournalNew England Journal of Medicine
Volume313
Issue number25
DOIs
StatePublished - 19 Dec 1985
Externally publishedYes

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