Effectiveness of a genetics self-instructional module for nurses involved in egg donor screening.

OBJECTIVE: To evaluate the effectiveness of a self-instructional module in increasing nurses' knowledge of genetics. DESIGN: Pretest/posttest study design. Participants completed a pretest questionnaire used to measure baseline knowledge of basic human genetic concepts and risk assessment and collect descriptive data. Participants then reviewed a self-instructional module and completed a posttest questionnaire. SETTING: Study materials were mailed to 262 registered nurses involved in screening egg donors at 177 reproductive health centers in the United States from July to September 2000. PARTICIPANTS: Sixty-five registered nurses working at reproductive health centers. One hundred of 262 eligible nurses completed the pretest (38% return rate) and 65 of these 100 nurses also completed the posttest (65% retention rate). INTERVENTION: A 22-page self-instructional booklet on genetic risk assessment. MAIN OUTCOME MEASURES: Pretest and posttest responses. RESULTS: There was a significant increase of 20.8% in participants' mean knowledge score on the posttest (M = 89.0%, SD = 8%, range = 67%-100%) as compared with the pretest (M = 69.0%, SD = 12%, range = 42%-92%), based on paired t-test analysis (t = 11.74, SE = 0.426, p < .0001). CONCLUSION: A genetics self-instructional module for registered nurses was effective in increasing knowledge of basic human genetic concepts and risk assessment. More in-depth independent study programs in genetics for nurses are recommended.

Minority recruitment into the genetic counseling profession.

In the past, genetic counseling training programs have had an abundance of applicants for the number of slots available. They have, however, had a very limited pool of minority applicants. At the June 1992 meeting of the genetic counseling training programs directors the topic of minority recruitment was explored. The resources and recommendations that resulted from this discussion can be used by other medical training programs.

Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation.

A pregnant woman whose previous child had a diagnosis of I-cell disease was referred for evaluation of the fetus. Fluid obtained by amniocentesis and maternal serum showed abnormally increased levels of lysosomal enzymes suggesting that the fetus had I-cell disease. Sonography at 18 weeks showed abnormally short femurs and intrauterine growth retardation. The pregnancy was electively terminated at 19 weeks' gestation and the diagnosis was confirmed. Radiographs of the fetus demonstrated that the bony dysplasia is present early in fetal life with diffuse decrease in bone mineralization, a coarse, lacy, trabecular pattern, overall shortening and under-modelling of the long bones, subperiosteal bone deficiency in the diaphysis giving the appearance of periosteal new bone, hypoplasia of the anterior superior aspect of the upper lumbar vertebral bodies, broad ribs, abnormal pelvis with squared iliac wings and flattened acetabular roofs, and a small irregular calcaneal ossification center. There was good correlation between the radiographic findings and the microscopic findings in the bones. We observed deficient endosteal bone formation, small epiphyses, and poorly developed intervertebral discs. We speculate that this indicates impaired production of extra-cellular matrix by several different types of specialized mesenchymal cells. Abnormalities of transport of glycoproteins other than lysosomal enzymes or excess of extracellular acid hydrolases may be involved in the pathogenesis.

Newborn screening for hemoglobinopathies in New York State: experience of physicians and parents of affected children.

Responses of physicians and parents to New York State-mandated newborn screening for sickle cell disease were solicited and evaluated. The index group comprised 25 infants born in western upstate New York. Each was found to have either sickle cell disease, hemoglobin SC disease, sickle beta-thalassemia, or hemoglobin C disease. In nondirective interviews the following factors were assessed: clinical course, the physician's policies of disease treatment and family counseling, the parents' reactions to the diagnosis and their level of understanding and compliance with medical recommendations, and the physicians' and parents' views on newborn screening. Newborn screening for sickle hemoglobin makes early prophylaxis and prompt treatment possible. Some morbidity may have been averted, judging from parental understanding of medical needs. Parents and physicians agreed that newborn screening for hemoglobinopathies is a valuable public health program. Suggestions for improving the New York state program included a need to increase communication among the screening laboratory, the hospital, and the physician; encouraging physicians to educate parents more fully, provide genetic counseling, and test parents and siblings of the identified neonate; and, most important, provide a well-delineated mechanism for follow-up of every infant with a potentially symptomatic hemoglobinopathy.