[Genetic counseling in hematologic diseases]. 1977

D Korać, and E Stojimirović, and S Miletić

In patients with hereditary haematologic diseases risk of repetition of these anomalies in brothers and sisters of probands and their progenies was assessed. In haemiphilia and Wiskott-Aldrich's. thrombocytopenia, both caused by a mutant gene in an X chromosome, prenatal pole determination was consulted in order to have a pregnancy with a male fetus interrupted due to high risk. Dominantly hereditary spherocytosis, eliptocytosis, chronic benign neutropenia are the diseases which do not appear in such a severe form that ceasation of further pregnancies should be consulted, instead, an early postnatal diagnosis is suggested to the families with increased risk of these anomalies. In the recessive hereditary beta thalassemia and in Fanconi's anemia in which prenatal diagnosis can not be made for the time being, level of risk for the further children is told to the parents after the child has been born. The parents are then left to decide whether to take a risk and have other children who might suffer of these severe haemolitic diseases. In the haemolitic diseases with often occurrence in certain families, but in which the manner of inheritance is not clear, as for example in the Kasebach-Meritt's syndrome, risk for the following children is uncertainly increased so that the genetic counsel is uncertain and unprecise. In the hereditary haemolitic diseases which appear sporadically, either of known or unknown etiology, such as congenital teleangiectasis of capillary vessels or Sturge-Weber's syndrome with severe vascular and nerval disorders, the parents are stimulated to further pregnancies as they are not followed by increased risk.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
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
D005260 Female Females
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
D006402 Hematologic Diseases Disorders of the blood and blood forming tissues. Blood Diseases,Hematological Diseases,Blood Disease,Disease, Blood,Disease, Hematologic,Disease, Hematological,Diseases, Blood,Diseases, Hematologic,Diseases, Hematological,Hematologic Disease,Hematological Disease
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

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