Prenatal diagnosis in type IIA von Willebrand disease. 1990

C Rothschild, and F Forestier, and F Daffos, and Y Sole, and F Bridey, and D Meyer, and M J Larrieu
Laboratoire d'Hématologie, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.

A prenatal diagnosis for fetal disease was performed at 20 weeks gestation in a severely affected patient with type IIA von Willebrand disease. In the fetal cord blood sample obtained under ultrasound guidance, the level of von Willebrand ristocetin cofactor activity was similar to that of von Willebrand factor antigen, and all the multimers were present. These results were compared to those obtained in 51 normal fetuses of similar gestational age (19-21 weeks). Normal fetuses showed slightly lower levels of von Willebrand factor than normal adults and in addition to all adult multimers, the presence of unusual large forms. This data compared with the case, allowed the exclusion of the diagnosis of type IIA von Willebrand disease in our patient's fetus. This was confirmed at birth in the cord blood.

UI MeSH Term Description Entries
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011262 Pregnancy Trimester, Second The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation. Midtrimester,Pregnancy, Second Trimester,Trimester, Second,Midtrimesters,Pregnancies, Second Trimester,Pregnancy Trimesters, Second,Second Pregnancy Trimester,Second Pregnancy Trimesters,Second Trimester,Second Trimester Pregnancies,Second Trimester Pregnancy,Second Trimesters,Trimesters, Second
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D005169 Factor VIII Factor VIII of blood coagulation. Antihemophilic factor that is part of the factor VIII/von Willebrand factor complex. Factor VIII is produced in the liver and acts in the intrinsic pathway of blood coagulation. It serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin. Coagulation Factor VIII,Factor VIII Clotting Antigen,Factor VIII Coagulant Antigen,Factor VIII Procoagulant Activity,Thromboplastinogen,Blood Coagulation Factor VIII,F VIII-C,Factor 8,Factor 8 C,Factor Eight,Factor VIIIC,Hyate-C,Hyatt-C,F VIII C,Hyate C,HyateC,Hyatt C,HyattC
D005260 Female Females
D005312 Fetal Blood Blood of the fetus. Exchange of nutrients and waste between the fetal and maternal blood occurs via the PLACENTA. The cord blood is blood contained in the umbilical vessels (UMBILICAL CORD) at the time of delivery. Cord Blood,Umbilical Cord Blood,Blood, Cord,Blood, Fetal,Blood, Umbilical Cord,Bloods, Cord,Bloods, Fetal,Bloods, Umbilical Cord,Cord Blood, Umbilical,Cord Bloods,Cord Bloods, Umbilical,Fetal Bloods,Umbilical Cord Bloods
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D012310 Ristocetin An antibiotic mixture of two components, A and B, obtained from Nocardia lurida (or the same substance produced by any other means). It is no longer used clinically because of its toxicity. It causes platelet agglutination and blood coagulation and is used to assay those functions in vitro. Ristomycin
D014841 von Willebrand Factor A high-molecular-weight plasma protein, produced by endothelial cells and megakaryocytes, that is part of the factor VIII/von Willebrand factor complex. The von Willebrand factor has receptors for collagen, platelets, and ristocetin activity as well as the immunologically distinct antigenic determinants. It functions in adhesion of platelets to collagen and hemostatic plug formation. The prolonged bleeding time in VON WILLEBRAND DISEASES is due to the deficiency of this factor. Factor VIII-Related Antigen,Factor VIIIR-Ag,Factor VIIIR-RCo,Plasma Factor VIII Complex,Ristocetin Cofactor,Ristocetin-Willebrand Factor,von Willebrand Protein,Factor VIII Related Antigen,Factor VIIIR Ag,Factor VIIIR RCo,Ristocetin Willebrand Factor

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