BACKGROUND Genetic counseling for BRCA1 and BRCA2 mutations (mutations associated with increased risk of breast-ovarian cancer) endeavors to communicate information that will help individuals make informed decisions regarding genetic testing. METHODS This repeated-measures study examined cancer genetics knowledge and beliefs before and after counseling and their relationship to receipt of res...

Genetics in general and more specifically ophthalmic genetics are areas that ophthalmologists tend not to focus too much on – during training and in practice. Undergraduate medical training and ophthalmology residency in India traditionally place more emphasis on diagnostic and surgical skills rather than other areas such as genetic analysis and genetic counseling. This is surprising considerin...

A recent report from the Departments of Health draws attention to the value of DNA diagnosis for inherited diseases and the need for planning these services in the National Health Service. There is great potential for preventive medicine, but a major immediate benefit is the newfound ability to exclude the carrier state in many people at risk and to protect fetuses from abortion when, as in mos...

A pregnancy contains a fetus, and if the fetus is abnormal the pregnancy is in one sense also abnormal. In this context, a consideration of genetic counselling is apposite to the pathology of pregnancy. Although counselling is not in itself a pathologist's technique, it is becoming increasingly reliant on sophisticated laboratory services, and genetic counsellors are often members of laboratory...

A study of Duchenne muscular dystrophy has shown an approximate prevalence of the disease among schoolboys to be 1 in 4000. Fifty-four families were available for genetic studies. In 19 families there were further affected cases and in 34 families the index patients was an isolated case. The proportion of affected brothers was 0.22 (11 of 50). There were 142 female relatives who had a risk of 1...

Genetic causes have a considerable involvement in infertility. Well-known examples are some chromosomal translocations or sex-chromosomal abnormalities and Y-chromosome deletions. The most common chromosomal aberrations associated especially with severe oligo- and azoospermia are sex chromosome aneuploidies and chromosomal translocations. Consequently, occurrence of aneuploid embryos will lower...

major congenital anomaly. About one half of these anomalies are detected at birth; the remainder becomes evident later in childhood or, less often, adulthood. Although nongenetic factors may cause malformations, genetic factors are usually responsible. In addition, more than 50 percent of fi rst-trimester spontaneous abortions and at least 5 percent of stillborn infants have chromosomal abnorma...