When skeletal dysplasias are suspected in the prenatal period, investigation, counseling, and management become especially challenging. By better understanding the complex forces at play and parental values, prenatal health care providers may improve the ways in which they counsel patients to improve the decision-making process under conditions of significant uncertainty, including in cases of prenatally suspected skeletal dysplasia.

This multi-method study uses statistical and comparative-historical investigations to find that abortion values shape genetic counseling practices across societies. Genetic counselors and genetically interested social scientists have long questioned, but never systematically demonstrated, whether this relationship exists. Genetic counseling data are drawn from cross-national surveys of genetic counselors (n = 2,906) from the mid-1990s, the key historical moment after this profession was globally established but before potentially confounding transnational professional effects. Data focus on Trisomy 21, severe open spina bifida, and Huntington’s chorea. Abortion data are drawn from a new comparative-historical investigation of abortion attitudes in 36 countries based on law, frequency of policy debate, incidence rates, and public opinion polling. The key overall finding is that the more controversial abortion is within a society, the less directive genetic counselors are willing to be, whereas the less controversial abortion is, the more directive the counseling. Polynomial regressions, t-tests, likelihood ratios, and Wald tests provide statistical evidence for the relationship observed through qualitative clustering.

Genetic screening for BRCA1 and BRCA2 gives women the opportunity for early detection, surveillance, and intervention. One key feature of genetic testing and counseling is the provision of personal lifetime risk. However, little attention has been paid to how women interpret lifetime risk information, despite the fact that they base screening, treatment and family planning decisions on such information. To study this vital issue, we set out to test the ability of women to choose the most appropriate interpretation of National Cancer Institute’s (NCI) message about lifetime risk of developing cancer for a woman with altered BRCA1 and BRCA2 genes. Participants included 277 women who had not undergone genetic testing or had cancer and 207 women who had undergone genetic testing or had cancer. Over 50% of the women who had not undergone genetic testing or had cancer and 40% of those who had undergone genetic testing or had cancer misunderstood NCI’s information. Furthermore, in line with a growing body of research, we found that high numeracy level (objective or subjective) is positively associated with a woman’s ability to correctly interpret NCI’s message.

Hearing impairment has long been recognized as a common feature in osteogenesis imperfecta. The figures in some publications could be taken to imply that, with increasing age, the proportion of osteogenesis imperfecta patients with hearing impairment approaches 100 per cent.

The incidence of hearing loss in a large survey of 1394 patients with osteogenesis imperfecta was examined. It was found that the most common age of onset was in the second, third and fourth decades of life. At the age of 50 approximately 50 per cent of the patients had symptoms of hearing impairment; over the next 20 years there was little further increase.

Differences were shown between patients with different clinical types of osteogenesis imperfecta as delineated in the Sillence classification; hearing loss was significantly less common in the type IV disease than in the type I disorder. Among the 29 families with osteogenesis imperfecta type IA there were distinct differences in the likelihood of hearing loss. These findings provide insights which will be valuable in giving patients advice on the likelihood of developing hearing loss in the future.

The diagnosis of multiple gestation at the time of genetic amniocentesis is a routine occurrence. In a combined series of 2765 patients referred for antenatal genetic studies from the Medical College of Virginia and the University of Iowa, 34 twin pregnancies were encountered (1.2%). Twenty-six of the patients with twins were referred for advanced maternal age. The other indications were previous neural tube defects (1), previous trisomy 21 (2), known carriers of Tay Sachs disease (2), previous Turner's syndrome (1), family history of trisomy 21 (1), and one pregnancy was referred because of an abnormal ultrasound. Amniocentesis procedures, outcome of the twin pregnancies, and genetic counseling issues, are discussed.

Twin concordance rates are usually reported without reference to the number of parents affected, apparently because the simple demonstration that monozygotic (MZ) twins are more concordant than are dizygotic (DZ) twins is the goal of most twin studies. Depending on the underlying mechanism, however, twin concordance rates can vary widely when conditioned on the number of parents affected. For the generalized single-locus model it is shown that conditional concordance rates in monozygotic twins, along with an estimate of the disorder's prevalence in the population, uniquely specify the underlying parameters of this important model. Knowledge of the exact parameter set is essential for competent genetic counseling.