Utilization of prenatal genetic testing by Israeli Moslem women: a national survey.

The number of prenatal genetic tests that are being offered to women is constantly increasing. However, there is little national data as to who is performing the tests and the reasons for doing or not doing so. The aim of the study was to evaluate the proportion of Israeli Moslem women who perform the various prenatal genetic tests and the factors affecting the performance of these tests. A 2-day survey was conducted in all the maternity departments in Israel based on a structured interview. Of the 242 women interviewed, 74.2% underwent the triple test (TT), 15.8% of the women older than 35 years who were eligible to take the test free of charge underwent amniocentesis and only 1.5% underwent fragile-X (FX) carrier testing which costs 100 dollars privately. In the stepwise regression analysis, having fewer children and having had a higher education affected the performance of the TT. None of the sociodemographic factors were associated with the performance of amniocentesis or FX carrier testing, but the sample sizes were small. The main reason reported by the women for not performing the TT and FX carrier testing was not being referred for testing. The main reason for not performing amniocentesis was that they chose not to perform the test (the majority of these women were religious or ultrareligious). Consideration should be given to providing first-trimester prenatal diagnosis when termination of pregnancy in the Moslem population is more acceptable. In addition, consideration should be given to including state-subsidized FX testing as there is a low rate of FX testing partly due to the cost. Primary care givers should be educated about the importance of prenatal genetic testing.

Pharyngeal flap for velopharyngeal incompetence in patients with myotonic dystrophy.

Velopharyngeal incompetence (VPI) has been associated with neuromuscular disorders. Only 4 patients with myotonic dystrophy (MD) who underwent pharyngeal flap elevation for VPI have been reported in the literature. In 3 patients, surgery preceded the diagnosis of MD. Cardiorespiratory complications characterized the postoperative period of 3 patients. The authors present 3 patients with VPI and an established diagnosis of MD (by molecular genetics) who underwent pharyngeal flap elevation. The operation resulted in a major improvement in speech in all patients, although some relapse was noted later in 1 patient. Contrary to previous reports, none had peri- or postoperative cardiorespiratory complications. MD, although an uncommon etiology, should be considered in cases of late-onset VPI. Owing to differences between the authors' findings and previous reports, additional studies are needed before final conclusions can be reached regarding the benefit and safety of pharyngeal flap surgery in MD patients. At present, MD should not be considered a contraindication for this procedure, although close perioperative monitoring is indicated.

Further delineation of cerebro-osteo-nephrosis syndrome.

We describe an Israeli Jewish child of Yemenite origin who may be affected with "cerebro-osteo-nephrosis." She is short of stature (height below 3rd centile) due to skeletal abnormalities. She has minor anomalies and borderline intelligence. There is marked proteinuria and she is in kidney failure. Opitz et al. [1985: Am J Med Genet 22:521-529] described 2 Hutterite sisters in America who were suffering from a condition which greatly resembles that of our patient. We question whether these conditions in the two families are the same syndrome with pleiotropic expression, as suggested by Opitz et al., or whether they represent two distinct genetic entities.

Pediatric telephone advice: a new medical service in Israel.

Although controversy still exists about dispensing medical advice over the telephone, such services are widely offered by pediatricians in the USA. In Israel, however, such services have not yet been developed. In a joint project of the Moked Keshev (a private medical help line) at Magen David Adom (national ambulance service) and the Children's Medical Center of Israel, the first pediatric telephone advice service in Israel was established. In this study we analyzed 512 consecutive incoming calls received during the first 11 months of service operation. Of these, 42% of calls concerned children in the 1 month to 1 year age group. Unexpectedly, calls were almost evenly distributed throughout the week with a slight decrease on Fridays and Saturdays (sabbath), and 45.7% of the calls were received during the morning shift. The three most common reasons for contact were: of a general nature such as fever (23%), gastrointestinal problems (19%), and medical questions (18%). In only 20.7% of the cases were the patients advised to go to the nearest hospital emergency department, emphasizing the non-emergent nature of the calls. At the time of follow-up (within 24 h), patient status was assessed as: improved (73.7%), same (22.6%), and worse (3.8%). Of those who became worse, none required an emergency department evaluation. The present study demonstrates that a Pediatric Telephone Advice Service in Israel is technically functional, medically safe, and contributes to the health management of children.

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.

Namaqualand spondyloepiphyseal dysplasia (NSED) is a mild autosomal dominant form of spondyloepiphyseal dysplasia in which changes are maximal in the femoral capital epiphyses and the vertebral bodies. The condition is present in a large multigeneration South African family, and it is clinically important by virtue of severe progressive degenerative osteoarthropathy of the hip joint, which frequently necessitates prosthetic joint replacement in adulthood. Linkage studies using molecular markers have shown that the loci for the NSED and type II collagen genes are linked (LOD score 7.98 at a recombination fraction of .00).