Haemophilia A and B--two years experience of genetic counselling and prenatal diagnosis. 1982

R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang

Haemophilia A. Thirty-one pregnant women, obligate or probable carriers of haemophilia A, requested prenatal diagnosis if sex determination showed the foetus to be a male. In 11 of the 31 cases the foetuses were females; in two, the genetic variant of the disease rendered prenatal diagnosis impossible; and in two, the mother aborted spontaneously. From the remaining 16 male foetuses, blood samples were obtained in utero in the 17th to 20th week of gestation. Examination of the samples showed that 11 of the foetuses were unaffected and five affected. Haemophilia B. Three carriers of haemophilia B had male foetuses. Examination of foetal blood obtained in utero showed that these three foetuses were affected. Confirmation. All women with an affected foetus requested termination of pregnancy. In one of the cases of abortion, no blood was obtained for confirmative examination. In the remaining cases, the prenatal prediction was confirmed in the abortus or in the child after birth; three women are still pregnant.

UI MeSH Term Description Entries
D007158 Immunologic Techniques Techniques used to demonstrate or measure an immune response, and to identify or measure antigens using antibodies. Antibody Dissociation,Immunologic Technic,Immunologic Technics,Immunologic Technique,Immunological Technics,Immunological Techniques,Technic, Immunologic,Technics, Immunologic,Technique, Immunologic,Techniques, Immunologic,Antibody Dissociations,Dissociation, Antibody,Dissociations, Antibody,Immunological Technic,Immunological Technique,Technic, Immunological,Technics, Immunological,Technique, Immunological,Techniques, Immunological
D008297 Male Males
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
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
D002836 Hemophilia B A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008) Christmas Disease,Factor IX Deficiency,Deficiency, Factor IX,F9 Deficiency,Haemophilia B,Hemophilia B Leyden,Hemophilia B(M),Plasma Thromboplastin Component Deficiency,Bs, Hemophilia,Deficiencies, F9,Deficiencies, Factor IX,Deficiency, F9,Disease, Christmas,F9 Deficiencies,Factor IX Deficiencies,Haemophilia Bs,Hemophilia Bs,Hemophilia Bs (M)
D005164 Factor IX Storage-stable blood coagulation factor acting in the intrinsic pathway of blood coagulation. Its activated form, IXa, forms a complex with factor VIII and calcium on platelet factor 3 to activate factor X to Xa. Deficiency of factor IX results in HEMOPHILIA B (Christmas Disease). Autoprothrombin II,Christmas Factor,Coagulation Factor IX,Plasma Thromboplastin Component,Blood Coagulation Factor IX,Factor 9,Factor IX Complex,Factor IX Fraction,Factor Nine,Factor IX, Coagulation
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
D005332 Fetoscopy Endoscopic examination, therapy or surgery of the fetus and amniotic cavity through abdominal or uterine entry. Amnioscopic Surgical Procedures,Amnioscopy,Embryoscopic Surgical Procedures,Embryoscopy,Fetoscopic Surgical Procedures,Surgical Procedures, Amnioscopic,Surgical Procedures, Embryoscopic,Surgical Procedures, Fetoscopic,Amnioscopic Surgery,Embryoscopic Surgery,Fetoscopic Surgery,Surgery, Amnioscopic,Surgery, Embryoscopic,Surgery, Fetoscopic,Amnioscopic Surgeries,Amnioscopic Surgical Procedure,Amnioscopies,Embryoscopic Surgeries,Embryoscopic Surgical Procedure,Embryoscopies,Fetoscopic Surgeries,Fetoscopic Surgical Procedure,Fetoscopies,Procedure, Amnioscopic Surgical,Procedure, Embryoscopic Surgical,Procedure, Fetoscopic Surgical,Procedures, Amnioscopic Surgical,Procedures, Embryoscopic Surgical,Procedures, Fetoscopic Surgical,Surgeries, Amnioscopic,Surgeries, Embryoscopic,Surgeries, Fetoscopic,Surgical Procedure, Amnioscopic,Surgical Procedure, Embryoscopic,Surgical Procedure, Fetoscopic
D005817 Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling

Related Publications

R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang
July 1988, Prenatal diagnosis,
R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang
January 1998, Haemophilia : the official journal of the World Federation of Hemophilia,
R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang
July 2007, Blood transfusion = Trasfusione del sangue,
R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang
November 2013, Haemophilia : the official journal of the World Federation of Hemophilia,
R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang
March 1999, Haemophilia : the official journal of the World Federation of Hemophilia,
R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang
March 1974, Midwives chronicle,
R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang
October 1983, British medical bulletin,
R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang
January 1974, Journal of clinical pathology. Supplement (Royal College of Pathologists),
R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang
September 1978, Obstetrical & gynecological survey,
R Ljung, and L Holmberg, and B Gustavii, and J Philip, and J Bang
November 2014, Haemophilia : the official journal of the World Federation of Hemophilia,
Copied contents to your clipboard!