منابع مشابه
Prenatal diagnosis and genetic counselling.
Traditionally genetic counselling has been made up of two parts. The first is the establishment of an accurate diagnosis of the disorder, usually in the child of the parents availing themselves of counsel but sometimes in the consultand himself. The second is the calculation of recurrence risks through knowledge or the best possible assumptions about the mode of inheritance of the disease. When...
متن کاملPrenatal Genetic Diagnosis and Genetic Counselling in Couples at High Risk for Mucoviscidosis (cystic Fibrosis)
Correspondence to: Zoran L. Popa, e-mail: [email protected], Clinic of Obstetrics and Gynecology III, Victor Babes University of Medicine and Pharmacy Timisoara, Romania SUMMARY: Mucoviscidosis is the most common genetic autosomal recessive disease in Caucasian populations, a potentially lethal disease and therefore prenatal genetic diagnosis is essential for couples with increased risk of h...
متن کاملPrevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). In the present study, we analysed samples from 76 patients referred with a diagnosis of either DGS or VCFS to determine the prevalence of 22q11 deletions in these disorders. Using probes and cosmids from the DiGeorge critical region (DGCR), deletions of 22q11 were detec...
متن کاملPrimary prevention of physical and mental handicaps: genetic counselling and prenatal diagnosis.
Primêre voorkoming is ’n belangrike terrein vir mediese genetika en die geneticse raadgewer vertolk hierin ’n belangrike roi. Daar is egter spesifieke indikasies vir verwysing van persone na ’n genetiese raadgewer en sy span, ’n Belangrike ontwikkeling in primêre voorkoming van genetiese afwykings is die moontlikheid van voorgeboortediagnose, deur amniosentese, van veral chromosoom afwykings, n...
متن کاملRole of genetic counselling in prenatal diagnosis of β-thalassaemia in Pakistan.
OBJECTIVE To compare the response towards prenatal diagnosis (PND) of b-thalassaemia, in individuals who had not received genetic counselling and a genetically counselled population. STUDY DESIGN Cross-sectional survey. PLACE AND DURATION OF STUDY Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi, from March 2009 to December 2010. METHODOLOGY Using non-prob...
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ژورنال
عنوان ژورنال: Journal of Clinical Pathology
سال: 1974
ISSN: 0021-9746
DOI: 10.1136/jcp.27.suppl_8.150