Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre-symptomatic diagnosis? 1980

B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff

A study was performed to assess the reliability and sensitivity of ultrasound for the screening of asymptomatic children of patients with known adult polycystic kidney disease (APKD) and to compare this technique with the IVP and conventional laboratory techniques. Ultrasound appears to be at least as sensitive as IVP for identifying carriers of the gene for polycystic kidney disease. The identification of about 50% of a group of 21 asymptomatic individuals-at-risk in the 21-30-year age group as gene carriers, both with ultrasound and IVP, is promising for the early detection of this disease and therefore for genetic counselling in the future. This is the first step toward the construction of an age-specific detection curve for gene carriers, which is necessary in order to be able to calculate the probability that symptomatic subjects-at-risk carry the APKD gene.

UI MeSH Term Description Entries
D007690 Polycystic Kidney Diseases Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance. Kidney, Polycystic,Polycystic Kidney,Polycystic Kidney Disease,Polycystic Kidneys,Polycystic Renal Disease,Disease, Polycystic Kidney,Disease, Polycystic Renal,Diseases, Polycystic Kidney,Diseases, Polycystic Renal,Kidney Disease, Polycystic,Kidney Diseases, Polycystic,Kidneys, Polycystic,Polycystic Renal Diseases,Renal Disease, Polycystic,Renal Diseases, Polycystic
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
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
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
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
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

Related Publications

B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff
August 1983, Clinical nephrology,
B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff
November 1977, Lancet (London, England),
B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff
January 1991, Nephron,
B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff
November 1988, The British journal of radiology,
B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff
June 1980, Lancet (London, England),
B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff
June 1992, American journal of medical genetics,
B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff
June 1992, Scottish medical journal,
B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff
October 2004, Fertility and sterility,
B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff
April 1982, American journal of medical genetics,
B L Hogewind, and J J Veltkamp, and C W Koch, and J de Graeff
January 1994, Yi chuan xue bao = Acta genetica Sinica,
Copied contents to your clipboard!