Carrier detection and genetic counselling in Duchenne muscular dystrophy: a follow-up study.

Assay of serum creatine kinase activity is useful in the detection of carriers of the X-linked gene for Duchenne muscular dystrophy (DMD). For genetic counselling this assay has been used in conjunction with pedigree analysis to improve estimates of the risk that a female relative of a DMD patient is a carrier. To measure the impact of the program, follow-up information was obtained from women who had received genetic counselling for DMD. Their responses showed that the risk of producing an affected son had been a major factor in their attitude toward family planning, and their reproductive performance correlated inversely with their genetic risk. The decision by the majority of proven carriers to prevent the birth of further male offspring was reflected in a recent decline in the frequency of a known family history of DMD among newly ascertained cases.     

Psychological issues in genetic counselling

Summary In the case of prenatal diagnosis and its possible consequences, there is discussion on the limits of freedom of decision. Nevertheless, there is considerable agreement that the individual family should be helped to make its own decisions and to live with these decisions. To attain these goals psychological issues are necessarily of importance. This paper presents concepts on these psychological issues and how they have to be taken into account in counselling. The character of mutuality in providing information is emphasized as well as cognitive and affective processes determining the understanding and outcome of genetic counselling. The role of prior knowledge, expectations, experience, and meaning attached to the disease and its consequences are discussed. Tasks for the counselling staff ranging from preparation for genetic counselling to follow-ups, counselling skills, and methods facilitating the counselling process are specified.     

Effect of genetic counselling on the prevalence of Huntington's chorea.

The relative fertility of sons and daughters of patients with Huntington''s chorea was found to be a little under 0.5 if they had been told of their risk of transmitting the disease before they had started their families. The effect was much the same in those who had attended the genetic clinic at The Hospital for Sick Children on a single occasion and those who had been told of their risk directly, or indirectly through the patient''s spouse or family doctor, by the neurologist who was looking after their affected parent at the National Hospital for Nervous Diseases. If all offspring of patients were informed of their risk the effect on the prevalence of the disorder would be substantial, especially if the mutation rate is low and the reproductive fitness of patients in the past has been close to 1.0. Men and women at risk of developing the disease should not be seen on just one occasion, however: they need continued support by being seen regularly at a special neurological genetic clinic.     

Case--control study of counselling against neonatal circumcision.

After two serious complications had alerted physicians to the potential risks of routine neonatal circumcision, the circumcision rate in a regional general hospital decreased significantly (p less than 0.001), from approximately 40% to 20%, settling at the level claimed to prevail when physicians oppose circumcision. Following this decrease 219 consecutive pregnancies resulting in male infants were prospectively studied in order to identify factors associated with insistence on circumcision. Factors significantly associated with circumcision were the existence of an older brother (p less than 0.001), especially if circumcised (p less than 0.001), and delivery of prenatal care by an obstetrician rather than a general practitioner (p less than 0.05). Factors significantly associated with no circumcision were the fact that this infant was the first male born in the family (p = 0.001), delivery of prenatal and infant care by the same general practitioner (p less than 0.05) and a maternal age of 20 years or less (p less than 0.02). The circumcision status of the father, the marital status of the mother, the mother''s intention to breast-feed, attendance of a primigravida at prenatal classes, delivery of infant care by a pediatrician and socioeconomic status did not appear to influence whether circumcision was performed. These data may assist physicians in understanding the potential effectiveness and limitations of counselling against circumcision.     

Facial asymmetries: problems in genetic counselling

The nosology of the facial asymmetries was studied and illustrated by 4 personal cases: two of incomplete oculo-auriculo-vertebral dysplasia, one of probable Saethre-Chotzen syndrome and one of Klippel-Trenaunay-Weber syndrome. Hints for the recurrent risk counselling are given.     

Risk, medicine and women: a case study on prenatal genetic counselling in Brazil

Genetic counselling is an important aspect of prenatal care in many developed countries. This tendency has also begun to emerge in Brazil, although few medical centres offer this service. Genetic counselling provides prenatal risk control through a process of individual decision-making based on medical information, in a context where diagnostic and therapeutic possibilities overlap. Detection of severe foetal anomalies can lead to a decision involving possible termination of pregnancy. This paper focuses on medical and legal consequences of the detection of severe foetal anomalies, mainly anencephaly and Down syndrome, and in light of the fact that abortion is illegal in Brazil. The discussion is based on the literature and empirical research at a high-complexity public hospital in Rio de Janeiro.     

Prevention of neural tube malformation by genetic counselling, and prenatal diagnostic surveillance.

The aetiology and genetics of the spectrum of dysraphic neural tube malformations from anencephaly through encephalocele, myelocele and meningocele to complicated spina bifida occulta, is outlined. The risk of recurrence, the methods and problems of genetic counselling are discussed. All women known to be at risk for neural tube malformation should be counselled carefully and offered prenatal diagnostic surveillance for any future pregnancy. There is no longer any need for a couple able to accept termination, to go through with a pregnancy in fear of recurrence.     

Science and society: genetic counselling and customary consanguineous marriage

Consanguineous marriage is customary in many societies, but leads to an increased birth prevalence of infants with severe recessive disorders. It is therefore often proposed that consanguineous marriage should be discouraged on medical grounds. However, several expert groups have pointed out that this proposal is inconsistent with the ethical principles of genetic counselling, overlooks the social importance of consanguineous marriage and is ineffective. Instead, they suggest that the custom increases the possibilities for effective genetic counselling, and recommend a concerted effort to identify families at increased risk, and to provide them with risk information and carrier testing when feasible.     

Genetic diagnostics and genetic counselling in Hypertrophic Cardiomyopathy (HCM)

Dutch professional groups involved in drawing up this guideline: cardiologists, paediatric cardiologists, clinical geneticists, clinical molecular geneticists, genetic counsellors, psychosocial workers, associated with or cooperating with the university hospitals’ outpatient clinics for cardiogenetics. Approved by the NVVC, VKGN and NVK (paediatric cardiology section). NVVC - Nederlandse Vereniging voor Cardiologie – Dutch Society for Cardiology; VKGN - Vereniging Klinische Genetica Nederland – the Netherlands Society for Clinical Genetics; NVK - Nederlandse Vereniging Kindergeneeskunde – Dutch Society for Paediatrics. First published in Dutch in June 2009.